### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLCN6) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CLCN6" "chloride channel, voltage-sensitive 6" "1" "p36" "unknown" "NC_000001.10" "UD_132084551134" "" "https://www.LOVD.nl/CLCN6" "" "1" "2024" "1185" "602726" "1" "1" "1" "1" "An NCL gene variant database\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CLCN6_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00008" "2012-06-04 00:00:00" "00006" "2023-04-14 13:15:52" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024245" "CLCN6" "transcript variant 1" "002" "NM_001286.3" "" "NP_001277.1" "" "" "" "-167" "5531" "2610" "11866153" "11903201" "00006" "2017-04-03 13:36:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "07010" "CONRIBA" "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" "AD" "619173" "" "" "" "00006" "2023-04-14 13:15:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CLCN6" "05258" "CLCN6" "07010" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00104692" "" "" "" "1" "" "00006" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "2-generation family, 1 affected, unaffected parents" "" "" "Poland" "" "0" "" "" "" "16950870-PatA" "00104693" "" "" "" "1" "" "00006" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "2-generation family, 1 affected, unaffected parents" "" "" "United States" "" "0" "" "" "" "16950870-PatB" "00104694" "" "" "" "3" "" "00006" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "" "" "" "0" "" "" "" "16950870-con" "00104695" "" "" "" "5" "" "00006" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "" "" "" "0" "" "" "" "16950870-con" "00104696" "" "" "" "2" "" "00006" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "" "" "" "0" "" "" "" "16950870-con" "00104969" "" "" "" "1" "" "00006" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "" "" "" "" "0" "" "" "white" "22865819-PatH10355" "00324116" "" "" "" "1" "" "00006" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat1" "00324117" "" "" "" "1" "" "00006" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "23m" "0" "" "" "Europe" "Pat2" "00324118" "" "" "" "1" "" "00006" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Europe" "Pat3" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00414398" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP65" "00434911" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "241153" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00104692" "05258" "00104693" "05258" "00104694" "00000" "00104695" "00000" "00104696" "00000" "00324116" "00198" "00324117" "00198" "00324118" "00198" "00390029" "04214" "00414398" "00198" "00434911" "07010" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04214, 05258, 07010 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000082610" "05258" "00104692" "00006" "Unknown" "" "teenage onset" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000082611" "05258" "00104693" "00006" "Unknown" "" "adult onset" "" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000082860" "00138" "00104969" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000242697" "00198" "00324116" "00006" "Isolated (sporadic)" "06y04m" "weight 20.0 kg (50, Z−0.63), height 100 cm (<1, Z-3.62), BMI 20 (96.9, Z1.9), OFC 50 (7, Z-1.42); severe developmental delay with regression; absence of spontaneous movements; speech impairment (HP:0002167), absent language; generalized hypotonia, muscular hypotonia (HP:0001252), apostural quadriplegia; no movement disorder (-HP:0100022); no seizures (-HP:0001250); EEG abnormality (HP:0002353); MRI scan anomalies; neurogenic bladder (HP:0000011); hyperthermia (HP:0001945); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); cortical blindness; chronic respiratory insufficiency, tracheostomy; hyperhidrosis, trichorrhexis nodosa: reduced hair copper content; feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; hypertelorism, arched eyebrows, long philtrum, thin upper lip; muscle biopsy mild signs of myopathy; sensory peripheral neuropathy" "" "" "" "" "" "" "" "" "CONRIBA" "early-onset neurodegeneration" "" "0000242698" "00198" "00324117" "00006" "Isolated (sporadic)" "00y23m" "weight 12.6 kg (70, Z0.52), height 87 cm (64, Z0.37), BMI 16.6 (67, Z0.43), OFC 48 cm (47, Z-0.07); 23m-deceased; global developmental delay (HP:0001263) with regression; 13m-rolling over, no crawling, no sitting and no standing; speech impairment (HP:0002167), single words; severe truncal hypotonia, muscular hypotonia (HP:0001252), no spasticity; movement disorder (HP:0100022); no seizures (-HP:0001250); EEG abnormality (HP:0002353); MRI scan anomalies; neurogenic bladder (HP:0000011); hyperthermia (HP:0001945); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); nystagmus, optic disc elevation, neuroretinal rim pallor; chronic respiratory insufficiency, tracheostomy; hyperhidrosis; feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; no craniofacial features (-HP:0001999); muscle biopsy mild signs of myopathy; sensory peripheral neuropathy" "" "" "" "" "" "" "" "" "CONRIBA" "early-onset neurodegeneration" "" "0000242699" "00198" "00324118" "00006" "Isolated (sporadic)" "00y18m" "weight 9.5 kg (20, Z−0.84), height 74.4 cm (<1, Z-2.57), BMI 17.14 (85, Z1.04), OFC 46.8 cm (59, Z+0.24); global developmental delay (HP:0001263) with regression; 14m-sit unsupported, cruises with help; speech impairment (HP:0002167), babbles, verbalizes 7 to 8 words; generalized hypotonia (truncal more then appendicular), muscular hypotonia (HP:0001252); no movement disorder (-HP:0100022); no seizures (-HP:0001250); no EEG abnormality (-HP:0002353); MRI scan anomalies; no neurogenic bladder (-HP:0000011); no abnormality of temperature regulation (-HP:0004370); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); optic disc elevation, alternating esotropia, strabismic amblyopia; chronic respiratory insufficiency, tracheostomy, ventilator dependency; no abnormality of skin and annexa (-HP:0000951); feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; no craniofacial features (-HP:0001999); muscle biopsy abnormal variation in muscle fiber sizes with reduced type II muscle fibers" "" "" "" "" "" "" "" "" "CONRIBA" "early-onset neurodegeneration" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000306233" "00198" "00414398" "00000" "Familial, X-linked recessive" "2y" "" "" "" "" "" "" "" "" "" "Dent Disease 1" "" "" "0000325161" "07010" "00434911" "01164" "Isolated (sporadic)" "02y" "Global developmental delay, Delayed speech and language development, Motor delay, Motor stereotypy, Vomiting, Hypotonia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105164" "00104692" "1" "00006" "00006" "2017-05-19 15:52:41" "" "" "SEQ" "DNA" "" "" "0000105165" "00104693" "1" "00006" "00006" "2017-05-19 15:58:13" "" "" "SEQ" "DNA" "" "" "0000105166" "00104694" "1" "00006" "00006" "2017-05-19 16:01:27" "" "" "SEQ" "DNA" "" "" "0000105167" "00104695" "1" "00006" "00006" "2017-05-19 16:03:27" "" "" "SEQ" "DNA" "" "" "0000105168" "00104696" "1" "00006" "00006" "2017-05-19 16:06:12" "" "" "SEQ" "DNA" "" "" "0000105442" "00104969" "1" "00006" "00006" "2017-06-13 23:33:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325305" "00324116" "1" "00006" "00006" "2020-12-01 10:52:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325306" "00324117" "1" "00006" "00006" "2020-12-01 10:52:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325307" "00324118" "1" "00006" "00006" "2020-12-01 10:52:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000415678" "00414398" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000436384" "00434911" "1" "01164" "01164" "2023-04-13 16:36:36" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000105164" "CLCN6" "0000105165" "CLCN6" "0000105166" "CLCN6" "0000105167" "CLCN6" "0000105168" "CLCN6" "0000105442" "CLCN6" "0000325305" "CLCN6" "0000325306" "CLCN6" "0000325307" "CLCN6" "0000391270" "NMNAT1" "0000415678" "CLCN5" "0000436384" "CLCN6" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 187 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001338" "0" "70" "1" "11888605" "11888605" "subst" "2.03051E-5" "00013" "CLCN6_000006" "g.11888605G>A" "1/67 patients" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "c.1045G>A;p.(A349T)" "" "Unknown" "" "" "0" "" "" "g.11828548G>A" "" "likely pathogenic" "" "0000170436" "0" "50" "1" "11894592" "11894592" "subst" "0.00241703" "00006" "CLCN6_000001" "g.11894592G>A" "1/75 cases" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "Val580Met" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.11834535G>A" "" "VUS" "" "0000170437" "0" "50" "1" "11896113" "11896113" "subst" "0" "00006" "CLCN6_000002" "g.11896113C>G" "1/75 cases" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "Thr628Arg" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.11836056C>G" "" "VUS" "" "0000170438" "0" "10" "1" "11876689" "11876689" "subst" "0" "00006" "CLCN6_000003" "g.11876689G>A" "3/100 controls" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "" "Germline" "" "" "0" "" "" "g.11816632G>A" "" "benign" "" "0000170439" "0" "10" "1" "11884555" "11884555" "subst" "0" "00006" "CLCN6_000004" "g.11884555G>A" "5/100 controls" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.11824498G>A" "" "benign" "" "0000170440" "0" "10" "1" "11896141" "11896141" "subst" "0.0181939" "00006" "CLCN6_000005" "g.11896141A>G" "2/100 controls" "{PMID:Poët 2006:16950870}, {DOI:Poët 2006:10.1073/pnas.0606137103}" "" "" "" "Germline" "" "" "0" "" "" "g.11836084A>G" "" "benign" "" "0000245434" "0" "10" "1" "11906068" "11906068" "subst" "0.136759" "02330" "NPPA_000001" "g.11906068A>G" "" "" "" "NPPA(NM_006172.4):c.454T>C (p.*152Rext*2), NPPA-AS1(NR_037806.1):n.1479+245A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11846011A>G" "" "benign" "" "0000245470" "0" "10" "1" "11907659" "11907659" "subst" "0.000544114" "02330" "NPPA_000011" "g.11907659A>G" "" "" "" "NPPA(NM_006172.4):c.83T>C (p.M28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847602A>G" "" "benign" "" "0000256690" "0" "50" "1" "11847928" "11847928" "subst" "0" "01943" "MTHFR_000003" "g.11847928A>G" "" "" "" "C1orf167(NM_001010881.1):c.3674-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11787871A>G" "" "VUS" "" "0000280034" "0" "10" "1" "11854896" "11854896" "subst" "0.0988395" "02330" "MTHFR_000019" "g.11854896G>A" "" "" "" "MTHFR(NM_005957.4):c.1056C>T (p.S352=), MTHFR(NM_005957.5):c.1056C>T (p.S352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794839G>A" "" "benign" "" "0000280035" "0" "10" "1" "11863057" "11863057" "subst" "0.0977119" "02330" "MTHFR_000030" "g.11863057G>A" "" "" "" "MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11803000G>A" "" "benign" "" "0000280036" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "02330" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794419T>G" "" "benign" "" "0000280037" "0" "10" "1" "11854457" "11854457" "subst" "0.975525" "02330" "MTHFR_000015" "g.11854457G>A" "" "" "" "MTHFR(NM_005957.4):c.1305C>T (p.F435=), MTHFR(NM_005957.5):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794400G>A" "" "benign" "" "0000280038" "0" "50" "1" "11852412" "11852412" "subst" "0.000658135" "02330" "MTHFR_000008" "g.11852412G>A" "" "" "" "MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.5):c.1555C>T (p.R519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11792355G>A" "" "VUS" "" "0000280039" "0" "10" "1" "11850927" "11850927" "subst" "0.055472" "02330" "MTHFR_000001" "g.11850927C>T" "" "" "" "MTHFR(NM_005957.5):c.1781G>A (p.R594Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11790870C>T" "" "benign" "" "0000280040" "0" "10" "1" "11850750" "11850750" "subst" "0.0136765" "02330" "MTHFR_000004" "g.11850750G>A" "" "" "" "MTHFR(NM_005957.4):c.1958C>T (p.T653M), MTHFR(NM_005957.5):c.1958C>T (p.T653M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11790693G>A" "" "benign" "" "0000282659" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "02325" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794419T>G" "" "benign" "" "0000282660" "0" "10" "1" "11854457" "11854457" "subst" "0.975525" "02325" "MTHFR_000015" "g.11854457G>A" "" "" "" "MTHFR(NM_005957.4):c.1305C>T (p.F435=), MTHFR(NM_005957.5):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794400G>A" "" "benign" "" "0000286685" "0" "30" "1" "11853987" "11853987" "subst" "0" "02326" "MTHFR_000010" "g.11853987T>G" "" "" "" "MTHFR(NM_005957.4):c.1507A>C (p.S503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11793930T>G" "" "likely benign" "" "0000286686" "0" "10" "1" "11852516" "11852516" "subst" "0" "02326" "MTHFR_000009" "g.11852516C>T" "" "" "" "MTHFR(NM_005957.4):c.1531-80G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11792459C>T" "" "benign" "" "0000286687" "0" "30" "1" "11851219" "11851219" "subst" "0.009819" "02326" "MTHFR_000007" "g.11851219C>T" "" "" "" "MTHFR(NM_005957.4):c.1752+45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11791162C>T" "" "likely benign" "" "0000286688" "0" "10" "1" "11850750" "11850750" "subst" "0.0136765" "02326" "MTHFR_000004" "g.11850750G>A" "" "" "" "MTHFR(NM_005957.4):c.1958C>T (p.T653M), MTHFR(NM_005957.5):c.1958C>T (p.T653M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11790693G>A" "" "benign" "" "0000286689" "0" "10" "1" "11861203" "11861203" "subst" "0" "02326" "MTHFR_000027" "g.11861203G>A" "" "" "" "MTHFR(NM_005957.4):c.475+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11801146G>A" "" "benign" "" "0000286690" "0" "30" "1" "11860435" "11860435" "subst" "0" "02326" "MTHFR_000025" "g.11860435T>C" "" "" "" "MTHFR(NM_005957.4):c.476-56A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11800378T>C" "" "likely benign" "" "0000286691" "0" "30" "1" "11860455" "11860455" "subst" "0" "02326" "MTHFR_000026" "g.11860455C>T" "" "" "" "MTHFR(NM_005957.4):c.476-76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11800398C>T" "" "likely benign" "" "0000292106" "0" "10" "1" "11854896" "11854896" "subst" "0.0988395" "01943" "MTHFR_000019" "g.11854896G>A" "" "" "" "MTHFR(NM_005957.4):c.1056C>T (p.S352=), MTHFR(NM_005957.5):c.1056C>T (p.S352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794839G>A" "" "benign" "" "0000292107" "0" "90" "1" "11854874" "11854874" "subst" "0" "01943" "MTHFR_000018" "g.11854874C>A" "" "" "" "MTHFR(NM_005957.4):c.1078G>T (p.E360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794817C>A" "" "pathogenic" "" "0000292108" "0" "50" "1" "11854790" "11854790" "subst" "0.000194908" "01943" "MTHFR_000017" "g.11854790G>A" "" "" "" "MTHFR(NM_005957.4):c.1162C>T (p.R388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794733G>A" "" "VUS" "" "0000292109" "0" "10" "1" "11863057" "11863057" "subst" "0.0977119" "01943" "MTHFR_000030" "g.11863057G>A" "" "" "" "MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11803000G>A" "" "benign" "" "0000292110" "0" "10" "1" "11854457" "11854457" "subst" "0.975525" "01943" "MTHFR_000015" "g.11854457G>A" "" "" "" "MTHFR(NM_005957.4):c.1305C>T (p.F435=), MTHFR(NM_005957.5):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794400G>A" "" "benign" "" "0000292111" "0" "50" "1" "11854085" "11854086" "delins" "0" "01943" "MTHFR_000013" "g.11854085_11854086delinsAG" "" "" "" "MTHFR(NM_005957.4):c.1408_1409delGAinsCT (p.E470L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794028_11794029delinsAG" "" "VUS" "" "0000292112" "0" "50" "1" "11854086" "11854086" "subst" "0.00158972" "01943" "MTHFR_000014" "g.11854086C>G" "" "" "" "MTHFR(NM_001330358.1):c.1531G>C (p.E511Q), MTHFR(NM_001330358.2):c.1531G>C (p.E511Q), MTHFR(NM_005957.5):c.1408G>C (p.E470Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794029C>G" "" "VUS" "" "0000292113" "0" "50" "1" "11854046" "11854046" "subst" "0" "01943" "MTHFR_000012" "g.11854046T>C" "" "" "" "MTHFR(NM_005957.4):c.1448A>G (p.N483S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11793989T>C" "" "VUS" "" "0000292114" "0" "10" "1" "11854018" "11854018" "subst" "0.00224802" "01943" "MTHFR_000011" "g.11854018C>T" "" "" "" "MTHFR(NM_005957.4):c.1476G>A (p.P492=), MTHFR(NM_005957.5):c.1476G>A (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11793961C>T" "" "benign" "" "0000292115" "0" "50" "1" "11852412" "11852412" "subst" "0.000658135" "01943" "MTHFR_000008" "g.11852412G>A" "" "" "" "MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.5):c.1555C>T (p.R519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11792355G>A" "" "VUS" "" "0000292116" "0" "30" "1" "11850947" "11850947" "subst" "0.00157427" "01943" "MTHFR_000006" "g.11850947G>A" "" "" "" "MTHFR(NM_005957.4):c.1761C>T (p.A587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11790890G>A" "" "likely benign" "" "0000292117" "0" "50" "1" "11850928" "11850928" "subst" "8.12982E-6" "01943" "MTHFR_000005" "g.11850928G>A" "" "" "" "MTHFR(NM_005957.4):c.1780C>T (p.R594W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11790871G>A" "" "VUS" "" "0000292118" "0" "50" "1" "11862935" "11862935" "subst" "0.0011037" "01943" "MTHFR_000029" "g.11862935T>C" "" "" "" "MTHFR(NM_005957.4):c.236+3A>G, MTHFR(NM_005957.5):c.236+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11802878T>C" "" "VUS" "" "0000292119" "0" "30" "1" "11861317" "11861317" "subst" "1.62438E-5" "01943" "MTHFR_000028" "g.11861317G>A" "" "" "" "MTHFR(NM_005957.4):c.376C>T (p.L126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11801260G>A" "" "likely benign" "" "0000292120" "0" "30" "1" "11856389" "11856389" "subst" "6.09083E-5" "01943" "MTHFR_000024" "g.11856389C>T" "" "" "" "MTHFR(NM_005957.4):c.654G>A (p.V218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11796332C>T" "" "likely benign" "" "0000292121" "0" "30" "1" "11856311" "11856311" "subst" "0.000211168" "01943" "MTHFR_000022" "g.11856311G>A" "" "" "" "MTHFR(NM_005957.4):c.732C>T (p.T244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11796254G>A" "" "likely benign" "" "0000292122" "0" "50" "1" "11855389" "11855389" "subst" "1.626E-5" "01943" "MTHFR_000021" "g.11855389C>T" "" "" "" "MTHFR(NM_005957.4):c.797G>A (p.R266Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11795332C>T" "" "VUS" "" "0000292123" "0" "30" "1" "11855316" "11855316" "subst" "0.000190882" "01943" "MTHFR_000020" "g.11855316G>A" "" "" "" "MTHFR(NM_005957.4):c.870C>T (p.N290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11795259G>A" "" "likely benign" "" "0000293230" "0" "10" "1" "11907603" "11907603" "subst" "0.0852304" "02330" "NPPA_000009" "g.11907603G>A" "" "" "" "NPPA(NM_006172.4):c.123+16C>T, NPPA-AS1(NR_037806.1):n.1592G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847546G>A" "" "benign" "" "0000293231" "0" "10" "1" "11907602" "11907602" "subst" "1.21858E-5" "02330" "NPPA_000008" "g.11907602C>T" "" "" "" "NPPA(NM_006172.4):c.123+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847545C>T" "" "benign" "" "0000293232" "0" "10" "1" "11907449" "11907449" "subst" "0.00110985" "02330" "NPPA_000007" "g.11907449G>A" "" "" "" "NPPA(NM_006172.4):c.171C>T (p.V57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847392G>A" "" "benign" "" "0000293233" "0" "10" "1" "11907430" "11907430" "subst" "0.00198154" "02330" "NPPA_000006" "g.11907430T>G" "" "" "" "NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847373T>G" "" "benign" "" "0000293234" "0" "10" "1" "11907422" "11907422" "subst" "0.00030578" "02330" "NPPA_000005" "g.11907422C>T" "" "" "" "NPPA(NM_006172.4):c.198G>A (p.P66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847365C>T" "" "benign" "" "0000293235" "0" "50" "1" "11907411" "11907412" "del" "0" "02330" "NPPA_000004" "g.11907411_11907412del" "" "" "" "NPPA(NM_006172.4):c.209_210delCG (p.A70Gfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847354_11847355del" "" "VUS" "" "0000293236" "0" "50" "1" "11907273" "11907273" "subst" "4.0842E-6" "02330" "NPPA_000003" "g.11907273C>T" "" "" "" "NPPA(NM_006172.4):c.347G>A (p.R116K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847216C>T" "" "VUS" "" "0000293237" "0" "10" "1" "11907179" "11907179" "subst" "0" "02330" "NPPA_000002" "g.11907179G>A" "" "" "" "NPPA(NM_006172.4):c.441C>T (p.N147=), NPPA-AS1(NR_037806.1):n.1480-312G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847122G>A" "" "benign" "" "0000293238" "0" "10" "1" "11907648" "11907648" "subst" "0.0557238" "02330" "NPPA_000010" "g.11907648C>T" "" "" "" "NPPA(NM_006172.4):c.94G>A (p.V32M), NPPA-AS1(NR_037806.1):n.1637C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847591C>T" "" "benign" "" "0000300407" "0" "30" "1" "11907430" "11907430" "subst" "0.00198154" "02326" "NPPA_000006" "g.11907430T>G" "" "" "" "NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11847373T>G" "" "likely benign" "" "0000320543" "0" "30" "1" "11862935" "11862935" "subst" "0.0011037" "01804" "MTHFR_000029" "g.11862935T>C" "" "" "" "MTHFR(NM_005957.4):c.236+3A>G, MTHFR(NM_005957.5):c.236+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11802878T>C" "" "likely benign" "" "0000340883" "0" "10" "1" "11854457" "11854457" "subst" "0.975525" "02327" "MTHFR_000015" "g.11854457G>A" "" "" "" "MTHFR(NM_005957.4):c.1305C>T (p.F435=), MTHFR(NM_005957.5):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794400G>A" "" "benign" "" "0000340915" "0" "10" "1" "11863057" "11863057" "subst" "0.0977119" "02327" "MTHFR_000030" "g.11863057G>A" "" "" "" "MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11803000G>A" "" "benign" "" "0000340921" "0" "10" "1" "11854018" "11854018" "subst" "0.00224802" "02327" "MTHFR_000011" "g.11854018C>T" "" "" "" "MTHFR(NM_005957.4):c.1476G>A (p.P492=), MTHFR(NM_005957.5):c.1476G>A (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11793961C>T" "" "benign" "" "0000340959" "0" "10" "1" "11854896" "11854896" "subst" "0.0988395" "02327" "MTHFR_000019" "g.11854896G>A" "" "" "" "MTHFR(NM_005957.4):c.1056C>T (p.S352=), MTHFR(NM_005957.5):c.1056C>T (p.S352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794839G>A" "" "benign" "" "0000345414" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "02327" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11794419T>G" "" "benign" "" "0000502651" "0" "50" "1" "11847536" "11847536" "subst" "3.51964E-5" "01943" "MTHFR_000035" "g.11847536C>G" "" "" "" "C1orf167(NM_001010881.1):c.3659C>G (p.T1220R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11787479C>G" "" "VUS" "" "0000502652" "0" "50" "1" "11850756" "11850756" "subst" "4.06227E-6" "02327" "MTHFR_000036" "g.11850756C>T" "" "" "" "MTHFR(NM_005957.5):c.1952G>A (p.(Arg651Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11790699C>T" "" "VUS" "" "0000502654" "0" "30" "1" "11850947" "11850947" "subst" "0.00157427" "02326" "MTHFR_000006" "g.11850947G>A" "" "" "" "MTHFR(NM_005957.4):c.1761C>T (p.A587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11790890G>A" "" "likely benign" "" "0000502655" "0" "50" "1" "11852412" "11852412" "subst" "0.000658135" "02329" "MTHFR_000008" "g.11852412G>A" "" "" "" "MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.5):c.1555C>T (p.R519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11792355G>A" "" "VUS" "" "0000502656" "0" "30" "1" "11853973" "11853973" "subst" "4.14824E-6" "01943" "MTHFR_000038" "g.11853973G>A" "" "" "" "MTHFR(NM_001330358.1):c.1644C>T (p.V548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11793916G>A" "" "likely benign" "" "0000502657" "0" "10" "1" "11854018" "11854018" "subst" "0.00224802" "02330" "MTHFR_000011" "g.11854018C>T" "" "" "" "MTHFR(NM_005957.4):c.1476G>A (p.P492=), MTHFR(NM_005957.5):c.1476G>A (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11793961C>T" "" "benign" "" "0000502658" "0" "50" "1" "11854085" "11854085" "subst" "0.00158964" "01943" "MTHFR_000039" "g.11854085T>A" "" "" "" "MTHFR(NM_005957.4):c.1409A>T (p.E470V), MTHFR(NM_005957.5):c.1409A>T (p.E470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794028T>A" "" "VUS" "" "0000502660" "0" "30" "1" "11854085" "11854085" "subst" "0.00158964" "02326" "MTHFR_000039" "g.11854085T>A" "" "" "" "MTHFR(NM_005957.4):c.1409A>T (p.E470V), MTHFR(NM_005957.5):c.1409A>T (p.E470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794028T>A" "" "likely benign" "" "0000502662" "0" "30" "1" "11854395" "11854395" "subst" "0.00108198" "02327" "MTHFR_000040" "g.11854395C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794338C>T" "" "likely benign" "" "0000502663" "0" "30" "1" "11854498" "11854498" "subst" "0.000629406" "02330" "MTHFR_000041" "g.11854498C>T" "" "" "" "MTHFR(NM_001330358.1):c.1387G>A (p.G463R), MTHFR(NM_005957.5):c.1264G>A (p.G422R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794441C>T" "" "likely benign" "" "0000502664" "0" "10" "1" "11854671" "11854671" "subst" "0" "02327" "MTHFR_000042" "g.11854671C>A" "" "" "" "MTHFR(NM_001330358.1):c.1290-76G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794614C>A" "" "benign" "" "0000502665" "0" "10" "1" "11854755" "11854755" "subst" "0.606975" "02327" "MTHFR_000043" "g.11854755G>A" "" "" "" "MTHFR(NM_001330358.1):c.1289+31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794698G>A" "" "benign" "" "0000502666" "0" "50" "1" "11854781" "11854781" "subst" "4.06058E-6" "01943" "MTHFR_000044" "g.11854781C>G" "" "" "" "MTHFR(NM_005957.4):c.1166+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794724C>G" "" "VUS" "" "0000502667" "0" "90" "1" "11854880" "11854880" "subst" "1.21853E-5" "02327" "MTHFR_000045" "g.11854880G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794823G>A" "" "pathogenic" "" "0000502668" "0" "30" "1" "11855157" "11855157" "subst" "0" "01804" "MTHFR_000046" "g.11855157G>C" "" "" "" "MTHFR(NM_005957.4):c.1029C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11795100G>C" "" "likely benign" "" "0000502669" "0" "30" "1" "11855316" "11855316" "subst" "0.000190882" "02326" "MTHFR_000020" "g.11855316G>A" "" "" "" "MTHFR(NM_005957.4):c.870C>T (p.N290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11795259G>A" "" "likely benign" "" "0000502670" "0" "30" "1" "11856310" "11856310" "subst" "0" "01943" "MTHFR_000047" "g.11856310C>T" "" "" "" "MTHFR(NM_005957.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11796253C>T" "" "likely benign" "" "0000502671" "0" "30" "1" "11856370" "11856370" "subst" "0.00018679" "01943" "MTHFR_000048" "g.11856370T>C" "" "" "" "MTHFR(NM_001330358.1):c.796A>G (p.I266V), MTHFR(NM_005957.5):c.673A>G (p.I225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11796313T>C" "" "likely benign" "" "0000502672" "0" "50" "1" "11861356" "11861356" "subst" "1.21838E-5" "01943" "MTHFR_000049" "g.11861356C>A" "" "" "" "MTHFR(NM_005957.4):c.337G>T (p.A113S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11801299C>A" "" "VUS" "" "0000502673" "0" "30" "1" "11861417" "11861417" "subst" "0.000540211" "01943" "MTHFR_000050" "g.11861417G>A" "" "" "" "MTHFR(NM_001330358.1):c.399C>T (p.D133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11801360G>A" "" "likely benign" "" "0000502674" "0" "30" "1" "11907430" "11907430" "subst" "0.00198154" "01804" "NPPA_000006" "g.11907430T>G" "" "" "" "NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847373T>G" "" "likely benign" "" "0000604697" "0" "30" "1" "11850750" "11850750" "subst" "0.0136765" "02327" "MTHFR_000004" "g.11850750G>A" "" "" "" "MTHFR(NM_005957.4):c.1958C>T (p.T653M), MTHFR(NM_005957.5):c.1958C>T (p.T653M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11790693G>A" "" "likely benign" "" "0000604698" "0" "10" "1" "11850927" "11850927" "subst" "0.055472" "02327" "MTHFR_000001" "g.11850927C>T" "" "" "" "MTHFR(NM_005957.5):c.1781G>A (p.R594Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11790870C>T" "" "benign" "" "0000604699" "0" "30" "1" "11851297" "11851297" "subst" "0.000272075" "02327" "MTHFR_000053" "g.11851297G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11791240G>A" "" "likely benign" "" "0000604700" "0" "50" "1" "11854086" "11854086" "subst" "0.00158972" "02325" "MTHFR_000014" "g.11854086C>G" "" "" "" "MTHFR(NM_001330358.1):c.1531G>C (p.E511Q), MTHFR(NM_001330358.2):c.1531G>C (p.E511Q), MTHFR(NM_005957.5):c.1408G>C (p.E470Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11794029C>G" "" "VUS" "" "0000604701" "0" "50" "1" "11856325" "11856325" "subst" "0" "01943" "MTHFR_000054" "g.11856325C>T" "" "" "" "MTHFR(NM_001330358.1):c.841G>A (p.V281M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11796268C>T" "" "VUS" "" "0000604702" "0" "50" "1" "11856390" "11856390" "subst" "8.12123E-6" "02325" "MTHFR_000055" "g.11856390A>G" "" "" "" "MTHFR(NM_001330358.2):c.776T>C (p.V259A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11796333A>G" "" "VUS" "" "0000604703" "0" "90" "1" "11861234" "11861234" "subst" "0.000113806" "02325" "MTHFR_000056" "g.11861234G>C" "" "" "" "MTHFR(NM_001330358.2):c.582C>G (p.I194M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11801177G>C" "" "pathogenic" "" "0000604704" "0" "50" "1" "11907172" "11907172" "subst" "1.65528E-5" "02327" "MTHFR_000058" "g.11907172G>A" "" "" "" "NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847115G>A" "" "VUS" "" "0000604705" "0" "70" "1" "11907232" "11907232" "subst" "0" "02327" "MTHFR_000059" "g.11907232A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847175A>G" "" "likely pathogenic" "" "0000604706" "0" "30" "1" "11907269" "11907269" "subst" "8.18371E-6" "02327" "MTHFR_000060" "g.11907269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847212C>T" "" "likely benign" "" "0000604707" "0" "10" "1" "11907485" "11907485" "subst" "0.000122421" "02330" "MTHFR_000062" "g.11907485G>A" "" "" "" "NPPA(NM_006172.4):c.135C>T (p.D45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847428G>A" "" "benign" "" "0000620364" "0" "50" "1" "11850948" "11850948" "subst" "8.1369E-6" "01943" "MTHFR_000052" "g.11850948G>T" "" "" "" "MTHFR(NM_001330358.1):c.1883C>A (p.A628D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11790891G>T" "" "VUS" "" "0000620365" "0" "30" "1" "11861292" "11861292" "subst" "1.21838E-5" "01943" "MTHFR_000057" "g.11861292C>A" "" "" "" "MTHFR(NM_001330358.1):c.524G>T (p.R175L), MTHFR(NM_005957.5):c.401G>T (p.(Arg134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11801235C>A" "" "likely benign" "" "0000620366" "0" "30" "1" "11907328" "11907328" "subst" "0.000542291" "02330" "MTHFR_000061" "g.11907328C>T" "" "" "" "NPPA(NM_006172.4):c.292G>A (p.G98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847271C>T" "" "likely benign" "" "0000653605" "0" "30" "1" "11856260" "11856260" "subst" "5.69333E-5" "01943" "MTHFR_000065" "g.11856260C>T" "" "" "" "MTHFR(NM_001330358.1):c.903+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11796203C>T" "" "likely benign" "" "0000653606" "0" "50" "1" "11907282" "11907282" "subst" "8.1582E-6" "02330" "MTHFR_000066" "g.11907282C>G" "" "" "" "NPPA(NM_006172.4):c.338G>C (p.S113T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11847225C>G" "" "VUS" "" "0000675425" "0" "50" "1" "11854410" "11854410" "subst" "0" "02325" "MTHFR_000072" "g.11854410C>T" "" "" "" "MTHFR(NM_005957.5):c.1347+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675426" "0" "50" "1" "11855182" "11855182" "subst" "4.90344E-5" "01943" "MTHFR_000073" "g.11855182C>T" "" "" "" "MTHFR(NM_005957.4):c.1004G>A (p.R335H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675427" "0" "30" "1" "11856335" "11856335" "subst" "0.000491347" "02326" "MTHFR_000074" "g.11856335G>A" "" "" "" "MTHFR(NM_001330358.1):c.831C>T (p.F277=), MTHFR(NM_005957.4):c.708C>T (p.F236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675428" "0" "30" "1" "11860321" "11860321" "subst" "4.06058E-6" "01943" "MTHFR_000075" "g.11860321C>T" "" "" "" "MTHFR(NM_001330358.1):c.657G>A (p.L219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675429" "0" "50" "1" "11863067" "11863067" "subst" "4.06504E-6" "02325" "MTHFR_000076" "g.11863067C>A" "" "" "" "MTHFR(NM_005957.5):c.107G>T (p.G36V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687826" "0" "90" "1" "11851317" "11851317" "subst" "4.06075E-5" "02327" "MTHFR_000077" "g.11851317G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687827" "0" "50" "1" "11854790" "11854790" "subst" "0.000194908" "02327" "MTHFR_000017" "g.11854790G>A" "" "" "" "MTHFR(NM_005957.4):c.1162C>T (p.R388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687828" "0" "30" "1" "11907430" "11907430" "subst" "0.00198154" "01943" "NPPA_000006" "g.11907430T>G" "" "" "" "NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708279" "0" "90" "1" "11894424" "11894424" "subst" "0" "00006" "CLCN6_000007" "g.11894424A>G" "" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "" "" "" "De novo" "" "" "0" "" "" "g.11834367A>G" "" "pathogenic (dominant)" "" "0000708280" "0" "90" "1" "11894424" "11894424" "subst" "0" "00006" "CLCN6_000007" "g.11894424A>G" "" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "" "" "" "De novo" "" "" "0" "" "" "g.11834367A>G" "" "pathogenic (dominant)" "" "0000708281" "0" "90" "1" "11894424" "11894424" "subst" "0" "00006" "CLCN6_000007" "g.11894424A>G" "" "{PMID:Polovitskaya 2020:33217309}, {DOI:Polovitskaya 2020:10.1016/j.ajhg.2020.11.004}" "" "" "" "De novo" "" "" "0" "" "" "g.11834367A>G" "" "pathogenic (dominant)" "" "0000716720" "0" "50" "1" "11850868" "11850868" "subst" "0" "02325" "MTHFR_000078" "g.11850868C>T" "" "" "" "MTHFR(NM_005957.5):c.1840G>A (p.D614N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716721" "0" "50" "1" "11852411" "11852411" "subst" "0.000544322" "02325" "MTHFR_000079" "g.11852411C>A" "" "" "" "MTHFR(NM_005957.4):c.1556G>T (p.R519L), MTHFR(NM_005957.5):c.1556G>T (p.R519L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716722" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "02326" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798697" "0" "30" "1" "11850767" "11850767" "subst" "0.000170603" "01943" "MTHFR_000081" "g.11850767G>T" "" "" "" "MTHFR(NM_005957.4):c.1941C>A (p.T647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798698" "0" "30" "1" "11852411" "11852411" "subst" "0.000544322" "02326" "MTHFR_000079" "g.11852411C>A" "" "" "" "MTHFR(NM_005957.4):c.1556G>T (p.R519L), MTHFR(NM_005957.5):c.1556G>T (p.R519L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798699" "0" "30" "1" "11854498" "11854498" "subst" "0.000629406" "01943" "MTHFR_000041" "g.11854498C>T" "" "" "" "MTHFR(NM_001330358.1):c.1387G>A (p.G463R), MTHFR(NM_005957.5):c.1264G>A (p.G422R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798700" "0" "50" "1" "11854918" "11854918" "subst" "2.84699E-5" "01943" "MTHFR_000082" "g.11854918C>T" "" "" "" "MTHFR(NM_001330358.1):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798701" "0" "30" "1" "11856335" "11856335" "subst" "0.000491347" "01943" "MTHFR_000074" "g.11856335G>A" "" "" "" "MTHFR(NM_001330358.1):c.831C>T (p.F277=), MTHFR(NM_005957.4):c.708C>T (p.F236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798702" "0" "50" "1" "11861449" "11861449" "subst" "0" "01943" "MTHFR_000083" "g.11861449G>C" "" "" "" "MTHFR(NM_001330358.1):c.367C>G (p.R123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798703" "0" "50" "1" "11907172" "11907172" "subst" "1.65528E-5" "02325" "MTHFR_000058" "g.11907172G>A" "" "" "" "NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0000848252" "0" "50" "1" "11850962" "11850981" "del" "0" "01943" "MTHFR_000090" "g.11850962_11850981del" "" "" "" "MTHFR(NM_001330358.1):c.1876-22_1876-3delGTGCGGGGGTATGTGTGTGT, MTHFR(NM_005957.4):c.1753-22_1753-3delGTGCGGGGGTATGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848253" "0" "90" "1" "11854864" "11854864" "subst" "8.12123E-6" "01943" "MTHFR_000094" "g.11854864C>T" "" "" "" "MTHFR(NM_005957.4):c.1088G>A (p.R363H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848254" "0" "70" "1" "11855225" "11855225" "subst" "0" "01943" "MTHFR_000095" "g.11855225A>T" "" "" "" "MTHFR(NM_001330358.1):c.1084T>A (p.Y362N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848255" "0" "30" "1" "11862929" "11862929" "subst" "0" "01943" "MTHFR_000101" "g.11862929T>G" "" "" "" "MTHFR(NM_001330358.1):c.359+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848256" "0" "50" "1" "11907411" "11907411" "subst" "2.03862E-5" "02330" "MTHFR_000103" "g.11907411G>A" "" "" "" "NPPA(NM_006172.4):c.209C>T (p.A70V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848257" "0" "50" "1" "11907492" "11907492" "subst" "8.16E-6" "02330" "MTHFR_000104" "g.11907492A>G" "" "" "" "NPPA(NM_006172.4):c.128T>C (p.L43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856895" "0" "10" "1" "11847759" "11847759" "subst" "0" "01943" "MTHFR_000085" "g.11847759C>T" "" "" "" "MTHFR(NM_001330358.1):c.*2978G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856896" "0" "10" "1" "11848139" "11848139" "subst" "0.169115" "01943" "MTHFR_000086" "g.11848139G>A" "" "" "" "MTHFR(NM_001330358.1):c.*2598C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856897" "0" "30" "1" "11848143" "11848143" "subst" "0.00214259" "01943" "MTHFR_000087" "g.11848143G>A" "" "" "" "MTHFR(NM_001330358.1):c.*2594C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856898" "0" "10" "1" "11848879" "11848879" "subst" "0" "01943" "MTHFR_000088" "g.11848879A>G" "" "" "" "MTHFR(NM_001330358.1):c.*1858T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856899" "0" "10" "1" "11849447" "11849447" "subst" "0.987371" "01943" "MTHFR_000089" "g.11849447A>G" "" "" "" "MTHFR(NM_001330358.1):c.*1290T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856900" "0" "10" "1" "11851003" "11851003" "subst" "0.261142" "01943" "MTHFR_000091" "g.11851003G>C" "" "" "" "MTHFR(NM_001330358.1):c.1876-48C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856901" "0" "10" "1" "11852300" "11852300" "subst" "0.262796" "01943" "MTHFR_000092" "g.11852300C>T" "" "" "" "MTHFR(NM_001330358.1):c.1755+35G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856902" "0" "30" "1" "11854034" "11854034" "subst" "8.12434E-6" "01943" "MTHFR_000093" "g.11854034T>C" "" "" "" "MTHFR(NM_005957.4):c.1460A>G (p.N487S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856903" "0" "30" "1" "11854085" "11854085" "subst" "0.00158964" "02325" "MTHFR_000039" "g.11854085T>A" "" "" "" "MTHFR(NM_005957.4):c.1409A>T (p.E470V), MTHFR(NM_005957.5):c.1409A>T (p.E470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856904" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "01943" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856905" "0" "10" "1" "11854671" "11854671" "subst" "0" "01943" "MTHFR_000042" "g.11854671C>A" "" "" "" "MTHFR(NM_001330358.1):c.1290-76G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856906" "0" "10" "1" "11854755" "11854755" "subst" "0.606975" "01943" "MTHFR_000043" "g.11854755G>A" "" "" "" "MTHFR(NM_001330358.1):c.1289+31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856907" "0" "50" "1" "11855279" "11855279" "subst" "8.93517E-5" "01943" "MTHFR_000096" "g.11855279C>T" "" "" "" "MTHFR(NM_005957.4):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856908" "0" "50" "1" "11855282" "11855282" "subst" "0" "01804" "MTHFR_000097" "g.11855282C>T" "" "" "" "MTHFR(NM_005957.4):c.904G>A (p.(Ala302Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856909" "0" "30" "1" "11856405" "11856405" "subst" "6.90316E-5" "01943" "MTHFR_000098" "g.11856405T>C" "" "" "" "MTHFR(NM_005957.4):c.638A>G (p.H213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856910" "0" "10" "1" "11860120" "11860120" "subst" "0" "01943" "MTHFR_000099" "g.11860120T>C" "" "" "" "MTHFR(NM_001330358.1):c.709+149A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856911" "0" "10" "1" "11860458" "11860458" "subst" "0" "01943" "MTHFR_000100" "g.11860458C>T" "" "" "" "MTHFR(NM_001330358.1):c.599-79G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856912" "0" "30" "1" "11863520" "11863520" "subst" "0" "01943" "MTHFR_000102" "g.11863520G>A" "" "" "" "MTHFR(NM_005957.4):c.-13-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873530" "0" "70" "X" "49851242" "49851242" "del" "0" "00000" "CLCN6_000001" "g.49851242del" "165" "{PMID:Sun 2018:30076350}" "" "CLCN5 (NM_001127899.1):c.1272delG(p.K424Nfs*5)" "different transcript: CLCN5 (NM_001127899.1):c.1272delG(p.K424Nfs*5)" "Germline/De novo (untested)" "?" "" "0" "" "" "g.50086585del" "" "likely pathogenic" "" "0000882715" "0" "50" "1" "11850835" "11850838" "dup" "0" "02329" "MTHFR_000107" "g.11850835_11850838dup" "" "" "" "MTHFR(NM_001330358.1):c.1994_1997dupATGA (p.D666Efs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882716" "0" "90" "1" "11854442" "11854442" "subst" "2.03065E-5" "02326" "MTHFR_000108" "g.11854442C>T" "" "" "" "MTHFR(NM_005957.4):c.1320G>A (p.S440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910754" "0" "50" "1" "11856370" "11856370" "subst" "0.00018679" "02325" "MTHFR_000048" "g.11856370T>C" "" "" "" "MTHFR(NM_001330358.1):c.796A>G (p.I266V), MTHFR(NM_005957.5):c.673A>G (p.I225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922761" "0" "70" "1" "11884561" "11884561" "subst" "0" "01164" "CLCN6_000008" "g.11884561A>C" "" "PMID: 28074849, 29667327, 20466723" "" "" "ACMG: PP3_MOD, PS2_SUP, PS3_SUP, PS4_SUP, PM2_SUP, confimred de novo in trio exome" "De novo" "-" "" "0" "" "" "g.11824504A>C" "" "likely pathogenic (dominant)" "ACMG" "0000922924" "0" "30" "1" "11907430" "11907430" "subst" "0.00198154" "02325" "NPPA_000006" "g.11907430T>G" "" "" "" "NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922925" "0" "50" "1" "11907492" "11907492" "subst" "8.16E-6" "02325" "MTHFR_000104" "g.11907492A>G" "" "" "" "NPPA(NM_006172.4):c.128T>C (p.L43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927988" "0" "50" "1" "11850897" "11850897" "subst" "1.6245E-5" "02325" "MTHFR_000112" "g.11850897G>A" "" "" "" "MTHFR(NM_005957.5):c.1811C>T (p.P604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927989" "0" "50" "1" "11897470" "11897470" "subst" "0" "02327" "MTHFR_000113" "g.11897470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946942" "0" "30" "1" "11907755" "11907755" "subst" "0.000170557" "02330" "MTHFR_000115" "g.11907755A>G" "" "" "" "NPPA(NM_006172.4):c.-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960403" "0" "50" "1" "11847542" "11847542" "subst" "7.06604E-5" "02325" "MTHFR_000116" "g.11847542G>A" "" "" "" "MTHFR(NM_005957.5):c.*3195C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960405" "0" "50" "1" "11863038" "11863038" "subst" "0.000186867" "02325" "MTHFR_000063" "g.11863038G>A" "" "" "" "MTHFR(NM_005957.5):c.136C>T (p.R46W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960406" "0" "50" "1" "11907243" "11907243" "subst" "8.74104E-5" "01804" "MTHFR_000117" "g.11907243C>T" "" "" "" "NPPA(NM_006172.3):c.377G>A (p.(Arg126Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973205" "0" "50" "1" "11850891" "11850891" "subst" "2.03051E-5" "01804" "MTHFR_000118" "g.11850891C>T" "" "" "" "MTHFR(NM_005957.5):c.1817G>A (p.(Arg606His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973206" "0" "50" "1" "11853984" "11853984" "subst" "0" "01804" "MTHFR_000119" "g.11853984C>T" "" "" "" "MTHFR(NM_005957.5):c.1510G>A (p.(Gly504Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973207" "0" "10" "1" "11854476" "11854476" "subst" "0.290185" "01804" "MTHFR_000016" "g.11854476T>G" "" "" "" "MTHFR(NM_001330358.1):c.1409A>C (p.E470A), MTHFR(NM_005957.4):c.1286A>C (p.E429A), MTHFR(NM_005957.5):c.1286A>C (p.E429A, p.(Glu429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973209" "0" "50" "1" "11861448" "11861448" "subst" "8.12843E-6" "01804" "MTHFR_000120" "g.11861448C>T" "" "" "" "MTHFR(NM_005957.5):c.245G>A (p.(Arg82Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973211" "0" "30" "1" "11884551" "11884551" "subst" "4.47253E-5" "01804" "MTHFR_000121" "g.11884551G>A" "" "" "" "CLCN6(NM_001286.5):c.589G>A (p.(Val197Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973212" "0" "50" "1" "11887261" "11887261" "subst" "2.0388E-5" "01804" "MTHFR_000122" "g.11887261G>A" "" "" "" "CLCN6(NM_001286.5):c.823G>A (p.(Gly275Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973213" "0" "50" "1" "11893663" "11893663" "subst" "0" "01804" "MTHFR_000123" "g.11893663A>G" "" "" "" "CLCN6(NM_001286.5):c.1340A>G (p.(Glu447Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990152" "0" "50" "1" "11855175" "11855175" "subst" "0" "02325" "MTHFR_000124" "g.11855175C>A" "" "" "" "MTHFR(NM_005957.5):c.1011G>T (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990153" "0" "30" "1" "11863112" "11863112" "subst" "1.2246E-5" "01804" "MTHFR_000110" "g.11863112C>T" "" "" "" "MTHFR(NM_005957.4):c.62G>A (p.(Ser21Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990154" "0" "30" "1" "11886232" "11886232" "subst" "1.62459E-5" "01804" "MTHFR_000125" "g.11886232G>A" "" "" "" "CLCN6(NM_001286.3):c.668G>A (p.(Arg223Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990155" "0" "50" "1" "11888236" "11888236" "subst" "0" "01804" "MTHFR_000126" "g.11888236C>G" "" "" "" "CLCN6(NM_001286.3):c.914C>G (p.(Ser305Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990156" "0" "30" "1" "11888627" "11888627" "subst" "4.06184E-6" "01804" "MTHFR_000127" "g.11888627A>G" "" "" "" "CLCN6(NM_001286.3):c.1067A>G (p.(Lys356Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990157" "0" "30" "1" "11894075" "11894075" "subst" "2.03482E-5" "01804" "MTHFR_000128" "g.11894075A>G" "" "" "" "CLCN6(NM_001286.3):c.1514A>G (p.(Asn505Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990158" "0" "30" "1" "11894438" "11894438" "subst" "1.21958E-5" "01804" "MTHFR_000129" "g.11894438A>G" "" "" "" "CLCN6(NM_001286.3):c.1672A>G (p.(Met558Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990159" "0" "30" "1" "11894592" "11894592" "subst" "0.00241703" "02325" "CLCN6_000001" "g.11894592G>A" "" "" "" "CLCN6(NM_001286.5):c.1738G>A (p.V580M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990160" "0" "50" "1" "11897186" "11897214" "dup" "0" "01804" "MTHFR_000130" "g.11897186_11897214dup" "" "" "" "CLCN6(NM_001286.3):c.2111_2138+1dupACCTCCTGCAGCAGATGCTGGAAAGGAGG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990161" "0" "50" "1" "11898722" "11898722" "subst" "0" "01804" "MTHFR_000131" "g.11898722G>A" "" "" "" "CLCN6(NM_001286.3):c.2529+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013201" "0" "90" "1" "11854086" "11854086" "subst" "4.06577E-6" "02327" "MTHFR_000132" "g.11854086C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013203" "0" "50" "1" "11884561" "11884561" "subst" "0" "02327" "MTHFR_000133" "g.11884561A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024017" "0" "50" "1" "11861363" "11861363" "subst" "0.000113709" "02325" "MTHFR_000134" "g.11861363C>G" "" "" "" "MTHFR(NM_005957.5):c.330G>C (p.M110I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031096" "0" "50" "1" "11850756" "11850756" "subst" "4.06227E-6" "01804" "MTHFR_000036" "g.11850756C>T" "" "" "" "MTHFR(NM_005957.5):c.1952G>A (p.(Arg651Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031097" "0" "90" "1" "11854822" "11854822" "subst" "1.21818E-5" "01804" "MTHFR_000136" "g.11854822C>T" "" "" "" "MTHFR(NM_005957.5):c.1130G>A (p.(Arg377His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031098" "0" "50" "1" "11855333" "11855333" "subst" "5.68606E-5" "01804" "MTHFR_000137" "g.11855333C>T" "" "" "" "MTHFR(NM_005957.5):c.853G>A (p.(Glu285Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031099" "0" "50" "1" "11861292" "11861292" "subst" "1.21838E-5" "01804" "MTHFR_000057" "g.11861292C>A" "" "" "" "MTHFR(NM_001330358.1):c.524G>T (p.R175L), MTHFR(NM_005957.5):c.401G>T (p.(Arg134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031100" "0" "50" "1" "11863514" "11863514" "subst" "0.0001321" "01804" "MTHFR_000138" "g.11863514T>C" "" "" "" "MTHFR(NM_001330358.2):c.58A>G (p.(Ile20Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031101" "0" "50" "1" "11876729" "11876729" "subst" "0" "01804" "MTHFR_000139" "g.11876729A>G" "" "" "" "CLCN6(NM_001286.5):c.271A>G (p.(Thr91Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031102" "0" "30" "1" "11883810" "11883810" "subst" "2.84239E-5" "01804" "MTHFR_000140" "g.11883810A>G" "" "" "" "CLCN6(NM_001286.5):c.500A>G (p.(Asn167Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031103" "0" "30" "1" "11884105" "11884105" "subst" "0" "01804" "MTHFR_000141" "g.11884105A>G" "" "" "" "CLCN6(NM_001286.5):c.580+215A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031104" "0" "30" "1" "11887210" "11887210" "subst" "8.93996E-5" "01804" "MTHFR_000142" "g.11887210A>G" "" "" "" "CLCN6(NM_001286.5):c.772A>G (p.(Ile258Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031105" "0" "50" "1" "11896064" "11896064" "subst" "0" "01804" "MTHFR_000143" "g.11896064G>A" "" "" "" "CLCN6(NM_001286.5):c.1834G>A (p.(Val612Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031106" "0" "50" "1" "11900226" "11900226" "subst" "4.09866E-6" "01804" "MTHFR_000144" "g.11900226C>A" "" "" "" "CLCN6(NM_001286.5):c.2556C>A (p.(Asn852Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031107" "0" "50" "1" "11907172" "11907172" "subst" "1.65528E-5" "01804" "MTHFR_000058" "g.11907172G>A" "" "" "" "NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CLCN6 ## Count = 187 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000001338" "00024245" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(1045g>a)" "p.(Ala349Thr)" "" "0000170436" "00024245" "30" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Met)" "17" "0000170437" "00024245" "50" "1883" "0" "1883" "0" "c.1883C>G" "r.(?)" "p.(Thr628Arg)" "18" "0000170438" "00024245" "10" "231" "0" "231" "0" "c.231G>A" "r.(?=)" "p.(Gly77=)" "4" "0000170439" "00024245" "10" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Gly198Glu)" "8" "0000170440" "00024245" "10" "1911" "0" "1911" "0" "c.1911A>G" "r.(?)" "p.(Thr637=)" "18" "0000245434" "00024245" "10" "8398" "0" "8398" "0" "c.*5788A>G" "r.(=)" "p.(=)" "" "0000245470" "00024245" "10" "9989" "0" "9989" "0" "c.*7379A>G" "r.(=)" "p.(=)" "" "0000256690" "00024245" "50" "-18392" "0" "-18392" "0" "c.-18392A>G" "r.(?)" "p.(=)" "" "0000280034" "00024245" "10" "-11424" "0" "-11424" "0" "c.-11424G>A" "r.(?)" "p.(=)" "" "0000280035" "00024245" "10" "-3263" "0" "-3263" "0" "c.-3263G>A" "r.(?)" "p.(=)" "" "0000280036" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000280037" "00024245" "10" "-11863" "0" "-11863" "0" "c.-11863G>A" "r.(?)" "p.(=)" "" "0000280038" "00024245" "50" "-13908" "0" "-13908" "0" "c.-13908G>A" "r.(?)" "p.(=)" "" "0000280039" "00024245" "10" "-15393" "0" "-15393" "0" "c.-15393C>T" "r.(?)" "p.(=)" "" "0000280040" "00024245" "10" "-15570" "0" "-15570" "0" "c.-15570G>A" "r.(?)" "p.(=)" "" "0000282659" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000282660" "00024245" "10" "-11863" "0" "-11863" "0" "c.-11863G>A" "r.(?)" "p.(=)" "" "0000286685" "00024245" "30" "-12333" "0" "-12333" "0" "c.-12333T>G" "r.(?)" "p.(=)" "" "0000286686" "00024245" "10" "-13804" "0" "-13804" "0" "c.-13804C>T" "r.(?)" "p.(=)" "" "0000286687" "00024245" "30" "-15101" "0" "-15101" "0" "c.-15101C>T" "r.(?)" "p.(=)" "" "0000286688" "00024245" "10" "-15570" "0" "-15570" "0" "c.-15570G>A" "r.(?)" "p.(=)" "" "0000286689" "00024245" "10" "-5117" "0" "-5117" "0" "c.-5117G>A" "r.(?)" "p.(=)" "" "0000286690" "00024245" "30" "-5885" "0" "-5885" "0" "c.-5885T>C" "r.(?)" "p.(=)" "" "0000286691" "00024245" "30" "-5865" "0" "-5865" "0" "c.-5865C>T" "r.(?)" "p.(=)" "" "0000292106" "00024245" "10" "-11424" "0" "-11424" "0" "c.-11424G>A" "r.(?)" "p.(=)" "" "0000292107" "00024245" "90" "-11446" "0" "-11446" "0" "c.-11446C>A" "r.(?)" "p.(=)" "" "0000292108" "00024245" "50" "-11530" "0" "-11530" "0" "c.-11530G>A" "r.(?)" "p.(=)" "" "0000292109" "00024245" "10" "-3263" "0" "-3263" "0" "c.-3263G>A" "r.(?)" "p.(=)" "" "0000292110" "00024245" "10" "-11863" "0" "-11863" "0" "c.-11863G>A" "r.(?)" "p.(=)" "" "0000292111" "00024245" "50" "-12235" "0" "-12234" "0" "c.-12235_-12234delinsAG" "r.(?)" "p.(=)" "" "0000292112" "00024245" "50" "-12234" "0" "-12234" "0" "c.-12234C>G" "r.(?)" "p.(=)" "" "0000292113" "00024245" "50" "-12274" "0" "-12274" "0" "c.-12274T>C" "r.(?)" "p.(=)" "" "0000292114" "00024245" "10" "-12302" "0" "-12302" "0" "c.-12302C>T" "r.(?)" "p.(=)" "" "0000292115" "00024245" "50" "-13908" "0" "-13908" "0" "c.-13908G>A" "r.(?)" "p.(=)" "" "0000292116" "00024245" "30" "-15373" "0" "-15373" "0" "c.-15373G>A" "r.(?)" "p.(=)" "" "0000292117" "00024245" "50" "-15392" "0" "-15392" "0" "c.-15392G>A" "r.(?)" "p.(=)" "" "0000292118" "00024245" "50" "-3385" "0" "-3385" "0" "c.-3385T>C" "r.(?)" "p.(=)" "" "0000292119" "00024245" "30" "-5003" "0" "-5003" "0" "c.-5003G>A" "r.(?)" "p.(=)" "" "0000292120" "00024245" "30" "-9931" "0" "-9931" "0" "c.-9931C>T" "r.(?)" "p.(=)" "" "0000292121" "00024245" "30" "-10009" "0" "-10009" "0" "c.-10009G>A" "r.(?)" "p.(=)" "" "0000292122" "00024245" "50" "-10931" "0" "-10931" "0" "c.-10931C>T" "r.(?)" "p.(=)" "" "0000292123" "00024245" "30" "-11004" "0" "-11004" "0" "c.-11004G>A" "r.(?)" "p.(=)" "" "0000293230" "00024245" "10" "9933" "0" "9933" "0" "c.*7323G>A" "r.(=)" "p.(=)" "" "0000293231" "00024245" "10" "9932" "0" "9932" "0" "c.*7322C>T" "r.(=)" "p.(=)" "" "0000293232" "00024245" "10" "9779" "0" "9779" "0" "c.*7169G>A" "r.(=)" "p.(=)" "" "0000293233" "00024245" "10" "9760" "0" "9760" "0" "c.*7150T>G" "r.(=)" "p.(=)" "" "0000293234" "00024245" "10" "9752" "0" "9752" "0" "c.*7142C>T" "r.(=)" "p.(=)" "" "0000293235" "00024245" "50" "9741" "0" "9742" "0" "c.*7131_*7132del" "r.(=)" "p.(=)" "" "0000293236" "00024245" "50" "9603" "0" "9603" "0" "c.*6993C>T" "r.(=)" "p.(=)" "" "0000293237" "00024245" "10" "9509" "0" "9509" "0" "c.*6899G>A" "r.(=)" "p.(=)" "" "0000293238" "00024245" "10" "9978" "0" "9978" "0" "c.*7368C>T" "r.(=)" "p.(=)" "" "0000300407" "00024245" "30" "9760" "0" "9760" "0" "c.*7150T>G" "r.(=)" "p.(=)" "" "0000320543" "00024245" "30" "-3385" "0" "-3385" "0" "c.-3385T>C" "r.(?)" "p.(=)" "" "0000340883" "00024245" "10" "-11863" "0" "-11863" "0" "c.-11863G>A" "r.(?)" "p.(=)" "" "0000340915" "00024245" "10" "-3263" "0" "-3263" "0" "c.-3263G>A" "r.(?)" "p.(=)" "" "0000340921" "00024245" "10" "-12302" "0" "-12302" "0" "c.-12302C>T" "r.(?)" "p.(=)" "" "0000340959" "00024245" "10" "-11424" "0" "-11424" "0" "c.-11424G>A" "r.(?)" "p.(=)" "" "0000345414" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000502651" "00024245" "50" "-18784" "0" "-18784" "0" "c.-18784C>G" "r.(?)" "p.(=)" "" "0000502652" "00024245" "50" "-15564" "0" "-15564" "0" "c.-15564C>T" "r.(?)" "p.(=)" "" "0000502654" "00024245" "30" "-15373" "0" "-15373" "0" "c.-15373G>A" "r.(?)" "p.(=)" "" "0000502655" "00024245" "50" "-13908" "0" "-13908" "0" "c.-13908G>A" "r.(?)" "p.(=)" "" "0000502656" "00024245" "30" "-12347" "0" "-12347" "0" "c.-12347G>A" "r.(?)" "p.(=)" "" "0000502657" "00024245" "10" "-12302" "0" "-12302" "0" "c.-12302C>T" "r.(?)" "p.(=)" "" "0000502658" "00024245" "50" "-12235" "0" "-12235" "0" "c.-12235T>A" "r.(?)" "p.(=)" "" "0000502660" "00024245" "30" "-12235" "0" "-12235" "0" "c.-12235T>A" "r.(?)" "p.(=)" "" "0000502662" "00024245" "30" "-11925" "0" "-11925" "0" "c.-11925C>T" "r.(?)" "p.(=)" "" "0000502663" "00024245" "30" "-11822" "0" "-11822" "0" "c.-11822C>T" "r.(?)" "p.(=)" "" "0000502664" "00024245" "10" "-11649" "0" "-11649" "0" "c.-11649C>A" "r.(?)" "p.(=)" "" "0000502665" "00024245" "10" "-11565" "0" "-11565" "0" "c.-11565G>A" "r.(?)" "p.(=)" "" "0000502666" "00024245" "50" "-11539" "0" "-11539" "0" "c.-11539C>G" "r.(?)" "p.(=)" "" "0000502667" "00024245" "90" "-11440" "0" "-11440" "0" "c.-11440G>A" "r.(?)" "p.(=)" "" "0000502668" "00024245" "30" "-11163" "0" "-11163" "0" "c.-11163G>C" "r.(?)" "p.(=)" "" "0000502669" "00024245" "30" "-11004" "0" "-11004" "0" "c.-11004G>A" "r.(?)" "p.(=)" "" "0000502670" "00024245" "30" "-10010" "0" "-10010" "0" "c.-10010C>T" "r.(?)" "p.(=)" "" "0000502671" "00024245" "30" "-9950" "0" "-9950" "0" "c.-9950T>C" "r.(?)" "p.(=)" "" "0000502672" "00024245" "50" "-4964" "0" "-4964" "0" "c.-4964C>A" "r.(?)" "p.(=)" "" "0000502673" "00024245" "30" "-4903" "0" "-4903" "0" "c.-4903G>A" "r.(?)" "p.(=)" "" "0000502674" "00024245" "30" "9760" "0" "9760" "0" "c.*7150T>G" "r.(=)" "p.(=)" "" "0000604697" "00024245" "30" "-15570" "0" "-15570" "0" "c.-15570G>A" "r.(?)" "p.(=)" "" "0000604698" "00024245" "10" "-15393" "0" "-15393" "0" "c.-15393C>T" "r.(?)" "p.(=)" "" "0000604699" "00024245" "30" "-15023" "0" "-15023" "0" "c.-15023G>A" "r.(?)" "p.(=)" "" "0000604700" "00024245" "50" "-12234" "0" "-12234" "0" "c.-12234C>G" "r.(?)" "p.(=)" "" "0000604701" "00024245" "50" "-9995" "0" "-9995" "0" "c.-9995C>T" "r.(?)" "p.(=)" "" "0000604702" "00024245" "50" "-9930" "0" "-9930" "0" "c.-9930A>G" "r.(?)" "p.(=)" "" "0000604703" "00024245" "90" "-5086" "0" "-5086" "0" "c.-5086G>C" "r.(?)" "p.(=)" "" "0000604704" "00024245" "50" "9502" "0" "9502" "0" "c.*6892G>A" "r.(=)" "p.(=)" "" "0000604705" "00024245" "70" "9562" "0" "9562" "0" "c.*6952A>G" "r.(=)" "p.(=)" "" "0000604706" "00024245" "30" "9599" "0" "9599" "0" "c.*6989C>T" "r.(=)" "p.(=)" "" "0000604707" "00024245" "10" "9815" "0" "9815" "0" "c.*7205G>A" "r.(=)" "p.(=)" "" "0000620364" "00024245" "50" "-15372" "0" "-15372" "0" "c.-15372G>T" "r.(?)" "p.(=)" "" "0000620365" "00024245" "30" "-5028" "0" "-5028" "0" "c.-5028C>A" "r.(?)" "p.(=)" "" "0000620366" "00024245" "30" "9658" "0" "9658" "0" "c.*7048C>T" "r.(=)" "p.(=)" "" "0000653605" "00024245" "30" "-10060" "0" "-10060" "0" "c.-10060C>T" "r.(?)" "p.(=)" "" "0000653606" "00024245" "50" "9612" "0" "9612" "0" "c.*7002C>G" "r.(=)" "p.(=)" "" "0000675425" "00024245" "50" "-11910" "0" "-11910" "0" "c.-11910C>T" "r.(?)" "p.(=)" "" "0000675426" "00024245" "50" "-11138" "0" "-11138" "0" "c.-11138C>T" "r.(?)" "p.(=)" "" "0000675427" "00024245" "30" "-9985" "0" "-9985" "0" "c.-9985G>A" "r.(?)" "p.(=)" "" "0000675428" "00024245" "30" "-5999" "0" "-5999" "0" "c.-5999C>T" "r.(?)" "p.(=)" "" "0000675429" "00024245" "50" "-3253" "0" "-3253" "0" "c.-3253C>A" "r.(?)" "p.(=)" "" "0000687826" "00024245" "90" "-15003" "0" "-15003" "0" "c.-15003G>A" "r.(?)" "p.(=)" "" "0000687827" "00024245" "50" "-11530" "0" "-11530" "0" "c.-11530G>A" "r.(?)" "p.(=)" "" "0000687828" "00024245" "30" "9760" "0" "9760" "0" "c.*7150T>G" "r.(=)" "p.(=)" "" "0000708279" "00024245" "90" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(Tyr553Cys)" "" "0000708280" "00024245" "90" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(Tyr553Cys)" "" "0000708281" "00024245" "90" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(Tyr553Cys)" "" "0000716720" "00024245" "50" "-15452" "0" "-15452" "0" "c.-15452C>T" "r.(?)" "p.(=)" "" "0000716721" "00024245" "50" "-13909" "0" "-13909" "0" "c.-13909C>A" "r.(?)" "p.(=)" "" "0000716722" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000798697" "00024245" "30" "-15553" "0" "-15553" "0" "c.-15553G>T" "r.(?)" "p.(=)" "" "0000798698" "00024245" "30" "-13909" "0" "-13909" "0" "c.-13909C>A" "r.(?)" "p.(=)" "" "0000798699" "00024245" "30" "-11822" "0" "-11822" "0" "c.-11822C>T" "r.(?)" "p.(=)" "" "0000798700" "00024245" "50" "-11402" "0" "-11402" "0" "c.-11402C>T" "r.(?)" "p.(=)" "" "0000798701" "00024245" "30" "-9985" "0" "-9985" "0" "c.-9985G>A" "r.(?)" "p.(=)" "" "0000798702" "00024245" "50" "-4871" "0" "-4871" "0" "c.-4871G>C" "r.(?)" "p.(=)" "" "0000798703" "00024245" "50" "9502" "0" "9502" "0" "c.*6892G>A" "r.(=)" "p.(=)" "" "0000821006" "00024245" "90" "-2666319" "0" "802330" "0" "c.-2666319_*799720del" "r.0?" "p.0?" "" "0000848252" "00024245" "50" "-15358" "0" "-15339" "0" "c.-15358_-15339del" "r.(?)" "p.(=)" "" "0000848253" "00024245" "90" "-11456" "0" "-11456" "0" "c.-11456C>T" "r.(?)" "p.(=)" "" "0000848254" "00024245" "70" "-11095" "0" "-11095" "0" "c.-11095A>T" "r.(?)" "p.(=)" "" "0000848255" "00024245" "30" "-3391" "0" "-3391" "0" "c.-3391T>G" "r.(?)" "p.(=)" "" "0000848256" "00024245" "50" "9741" "0" "9741" "0" "c.*7131G>A" "r.(=)" "p.(=)" "" "0000848257" "00024245" "50" "9822" "0" "9822" "0" "c.*7212A>G" "r.(=)" "p.(=)" "" "0000856895" "00024245" "10" "-18561" "0" "-18561" "0" "c.-18561C>T" "r.(?)" "p.(=)" "" "0000856896" "00024245" "10" "-18181" "0" "-18181" "0" "c.-18181G>A" "r.(?)" "p.(=)" "" "0000856897" "00024245" "30" "-18177" "0" "-18177" "0" "c.-18177G>A" "r.(?)" "p.(=)" "" "0000856898" "00024245" "10" "-17441" "0" "-17441" "0" "c.-17441A>G" "r.(?)" "p.(=)" "" "0000856899" "00024245" "10" "-16873" "0" "-16873" "0" "c.-16873A>G" "r.(?)" "p.(=)" "" "0000856900" "00024245" "10" "-15317" "0" "-15317" "0" "c.-15317G>C" "r.(?)" "p.(=)" "" "0000856901" "00024245" "10" "-14020" "0" "-14020" "0" "c.-14020C>T" "r.(?)" "p.(=)" "" "0000856902" "00024245" "30" "-12286" "0" "-12286" "0" "c.-12286T>C" "r.(?)" "p.(=)" "" "0000856903" "00024245" "30" "-12235" "0" "-12235" "0" "c.-12235T>A" "r.(?)" "p.(=)" "" "0000856904" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000856905" "00024245" "10" "-11649" "0" "-11649" "0" "c.-11649C>A" "r.(?)" "p.(=)" "" "0000856906" "00024245" "10" "-11565" "0" "-11565" "0" "c.-11565G>A" "r.(?)" "p.(=)" "" "0000856907" "00024245" "50" "-11041" "0" "-11041" "0" "c.-11041C>T" "r.(?)" "p.(=)" "" "0000856908" "00024245" "50" "-11038" "0" "-11038" "0" "c.-11038C>T" "r.(?)" "p.(=)" "" "0000856909" "00024245" "30" "-9915" "0" "-9915" "0" "c.-9915T>C" "r.(?)" "p.(=)" "" "0000856910" "00024245" "10" "-6200" "0" "-6200" "0" "c.-6200T>C" "r.(?)" "p.(=)" "" "0000856911" "00024245" "10" "-5862" "0" "-5862" "0" "c.-5862C>T" "r.(?)" "p.(=)" "" "0000856912" "00024245" "30" "-2800" "0" "-2800" "0" "c.-2800G>A" "r.(?)" "p.(=)" "" "0000873530" "00024245" "70" "1272" "0" "1272" "0" "c.1272del" "r.(?)" "p.(Lys424Asnfs*5)" "" "0000882715" "00024245" "50" "-15485" "0" "-15482" "0" "c.-15485_-15482dup" "r.(?)" "p.(=)" "" "0000882716" "00024245" "90" "-11878" "0" "-11878" "0" "c.-11878C>T" "r.(?)" "p.(=)" "" "0000910754" "00024245" "50" "-9950" "0" "-9950" "0" "c.-9950T>C" "r.(?)" "p.(=)" "" "0000922761" "00024245" "70" "599" "0" "599" "0" "c.599A>C" "r.(?)" "p.(Glu200Ala)" "" "0000922924" "00024245" "30" "9760" "0" "9760" "0" "c.*7150T>G" "r.(=)" "p.(=)" "" "0000922925" "00024245" "50" "9822" "0" "9822" "0" "c.*7212A>G" "r.(=)" "p.(=)" "" "0000927988" "00024245" "50" "-15423" "0" "-15423" "0" "c.-15423G>A" "r.(?)" "p.(=)" "" "0000927989" "00024245" "50" "2209" "0" "2209" "0" "c.2209C>T" "r.(?)" "p.(Arg737Cys)" "" "0000946942" "00024245" "30" "10085" "0" "10085" "0" "c.*7475A>G" "r.(=)" "p.(=)" "" "0000960403" "00024245" "50" "-18778" "0" "-18778" "0" "c.-18778G>A" "r.(?)" "p.(=)" "" "0000960405" "00024245" "50" "-3282" "0" "-3282" "0" "c.-3282G>A" "r.(?)" "p.(=)" "" "0000960406" "00024245" "50" "9573" "0" "9573" "0" "c.*6963C>T" "r.(=)" "p.(=)" "" "0000973205" "00024245" "50" "-15429" "0" "-15429" "0" "c.-15429C>T" "r.(?)" "p.(=)" "" "0000973206" "00024245" "50" "-12336" "0" "-12336" "0" "c.-12336C>T" "r.(?)" "p.(=)" "" "0000973207" "00024245" "10" "-11844" "0" "-11844" "0" "c.-11844T>G" "r.(?)" "p.(=)" "" "0000973209" "00024245" "50" "-4872" "0" "-4872" "0" "c.-4872C>T" "r.(?)" "p.(=)" "" "0000973211" "00024245" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000973212" "00024245" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "" "0000973213" "00024245" "50" "1340" "0" "1340" "0" "c.1340A>G" "r.(?)" "p.(Glu447Gly)" "" "0000990152" "00024245" "50" "-11145" "0" "-11145" "0" "c.-11145C>A" "r.(?)" "p.(=)" "" "0000990153" "00024245" "30" "-3208" "0" "-3208" "0" "c.-3208C>T" "r.(?)" "p.(=)" "" "0000990154" "00024245" "30" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000990155" "00024245" "50" "914" "0" "914" "0" "c.914C>G" "r.(?)" "p.(Ser305Cys)" "" "0000990156" "00024245" "30" "1067" "0" "1067" "0" "c.1067A>G" "r.(?)" "p.(Lys356Arg)" "" "0000990157" "00024245" "30" "1514" "0" "1514" "0" "c.1514A>G" "r.(?)" "p.(Asn505Ser)" "" "0000990158" "00024245" "30" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Met558Val)" "" "0000990159" "00024245" "30" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Met)" "" "0000990160" "00024245" "50" "2111" "0" "2138" "1" "c.2111_2138+1dup" "r.spl?" "p.?" "" "0000990161" "00024245" "50" "2529" "5" "2529" "5" "c.2529+5G>A" "r.spl?" "p.?" "" "0001013201" "00024245" "90" "-12234" "0" "-12234" "0" "c.-12234C>A" "r.(?)" "p.(=)" "" "0001013203" "00024245" "50" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(Glu200Gly)" "" "0001024017" "00024245" "50" "-4957" "0" "-4957" "0" "c.-4957C>G" "r.(?)" "p.(=)" "" "0001031096" "00024245" "50" "-15564" "0" "-15564" "0" "c.-15564C>T" "r.(?)" "p.(=)" "" "0001031097" "00024245" "90" "-11498" "0" "-11498" "0" "c.-11498C>T" "r.(?)" "p.(=)" "" "0001031098" "00024245" "50" "-10987" "0" "-10987" "0" "c.-10987C>T" "r.(?)" "p.(=)" "" "0001031099" "00024245" "50" "-5028" "0" "-5028" "0" "c.-5028C>A" "r.(?)" "p.(=)" "" "0001031100" "00024245" "50" "-2806" "0" "-2806" "0" "c.-2806T>C" "r.(?)" "p.(=)" "" "0001031101" "00024245" "50" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Thr91Ala)" "" "0001031102" "00024245" "30" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "" "0001031103" "00024245" "30" "580" "215" "580" "215" "c.580+215A>G" "r.(=)" "p.(=)" "" "0001031104" "00024245" "30" "772" "0" "772" "0" "c.772A>G" "r.(?)" "p.(Ile258Val)" "" "0001031105" "00024245" "50" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Val612Ile)" "" "0001031106" "00024245" "50" "2556" "0" "2556" "0" "c.2556C>A" "r.(?)" "p.(Asn852Lys)" "" "0001031107" "00024245" "50" "9502" "0" "9502" "0" "c.*6892G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000105164" "0000170436" "0000105165" "0000170437" "0000105166" "0000170438" "0000105167" "0000170439" "0000105168" "0000170440" "0000105442" "0000001338" "0000325305" "0000708279" "0000325306" "0000708280" "0000325307" "0000708281" "0000391270" "0000821006" "0000415678" "0000873530" "0000436384" "0000922761"