### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHKG2) # 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}}" "PHKG2" "phosphorylase kinase, gamma 2 (testis)" "16" "p11.2" "unknown" "NG_016616.1" "UD_132119060130" "" "https://www.LOVD.nl/PHKG2" "" "1" "8931" "5261" "172471" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PHKG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-01-21 17:47:43" "00006" "2025-08-01 17:30:16" ## 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}}" "00016102" "PHKG2" "transcript variant 1" "001" "NM_000294.2" "" "NP_000285.1" "" "" "" "-210" "5300" "1221" "30759620" "30772497" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03232" "GSD9C" "storage disease, glycogen, type IXc (GSD-9C)" "AR" "613027" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PHKG2" "03232" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00095871" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095872" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095873" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095874" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095875" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095877" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095878" "" "" "" "1" "" "01864" "" "" "?" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00222939" "" "" "" "1" "" "02976" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00222940" "" "" "" "1" "" "02976" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00222941" "" "" "" "1" "" "02976" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00329061" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat38" "00329062" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat39" "00329064" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat40" "00329090" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "F" "" "United States" "" "0" "" "" "" "P23" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00466044" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466045" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466046" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466047" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466049" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466050" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466051" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466052" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466053" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466054" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466055" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" "00466056" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00050683" "00198" "00095871" "03232" "00095872" "03232" "00095873" "03232" "00095874" "03232" "00095875" "03232" "00095877" "03232" "00095878" "03232" "00222939" "03232" "00222940" "03232" "00222941" "03232" "00329061" "04216" "00329062" "04216" "00329064" "04216" "00329090" "04216" "00390025" "04214" "00466044" "03232" "00466045" "03232" "00466046" "03232" "00466047" "03232" "00466049" "03232" "00466050" "03232" "00466051" "03232" "00466052" "03232" "00466053" "03232" "00466054" "03232" "00466055" "03232" "00466056" "03232" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03232, 04214, 04216 ## Count = 25 "{{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}}" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000074166" "03232" "00095871" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074167" "03232" "00095872" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074168" "03232" "00095873" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074169" "03232" "00095874" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074170" "03232" "00095875" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074172" "03232" "00095877" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074173" "03232" "00095878" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247258" "04216" "00329061" "00000" "Familial, autosomal recessive" "" "see paper; ..., severe Phk deficiency, cirrhosis" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247259" "04216" "00329062" "00000" "Familial, autosomal recessive" "" "see paper; ..., severe Phk deficiency, cirrhosis" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247261" "04216" "00329064" "00000" "Familial, autosomal recessive" "" "see paper; ..., hypoglycemic symptoms" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247287" "04216" "00329090" "00000" "Familial, autosomal recessive" "9y" "see paper; ..., hypoglycemia/GSD 0?, no hepatosplenomegaly, no lactic acidemia" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000351429" "03232" "00466044" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351430" "03232" "00466045" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351431" "03232" "00466046" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351432" "03232" "00466047" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351436" "03232" "00466050" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351437" "03232" "00466051" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351438" "03232" "00466052" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351439" "03232" "00466053" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351440" "03232" "00466054" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351441" "03232" "00466055" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351442" "03232" "00466056" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351444" "03232" "00466049" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000096271" "00095871" "1" "01864" "01864" "2017-01-19 01:59:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096272" "00095872" "1" "01864" "01864" "2017-01-19 02:08:12" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096273" "00095873" "1" "01864" "01864" "2017-01-19 02:18:04" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096274" "00095874" "1" "01864" "01864" "2017-01-19 02:21:42" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096275" "00095875" "1" "01864" "01864" "2017-01-19 02:27:44" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096277" "00095877" "1" "01864" "01864" "2017-01-19 02:38:14" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000096278" "00095878" "1" "01864" "01864" "2017-01-19 02:46:30" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000224014" "00222939" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000224015" "00222940" "1" "02976" "02976" "2012-01-21 13:32:14" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000224016" "00222941" "1" "02976" "02976" "2012-01-21 13:32:14" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000330278" "00329061" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330279" "00329062" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330281" "00329064" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330307" "00329090" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000467698" "00466046" "1" "01864" "01864" "2025-07-14 05:20:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000467699" "00466047" "1" "01864" "01864" "2025-07-14 05:33:38" "" "" "SEQ" "DNA" "blood" "" "0000467700" "00466044" "1" "01864" "01864" "2025-07-14 17:42:50" "" "" "SEQ" "DNA" "blood" "" "0000467701" "00466045" "1" "01864" "01864" "2025-07-14 17:57:10" "" "" "SEQ" "DNA" "blood" "" "0000467702" "00466049" "1" "01864" "01864" "2025-07-14 18:12:15" "" "" "SEQ-NG" "DNA" "blood" "" "0000467703" "00466050" "1" "01864" "01864" "2025-07-14 18:17:52" "" "" "SEQ-NG" "DNA" "blood" "" "0000467704" "00466051" "1" "01864" "01864" "2025-07-14 18:21:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000467705" "00466052" "1" "01864" "01864" "2025-07-14 18:25:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000467706" "00466053" "1" "01864" "01864" "2025-07-14 18:32:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000467707" "00466054" "1" "01864" "01864" "2025-07-14 18:37:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000467708" "00466055" "1" "01864" "01864" "2025-07-14 18:43:29" "" "" "SEQ" "DNA" "" "" "0000467709" "00466056" "1" "01864" "01864" "2025-07-14 18:47:32" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000096271" "PHKG2" "0000096272" "PHKG2" "0000096273" "PHKG2" "0000096274" "PHKG2" "0000096275" "PHKG2" "0000096277" "PHKG2" "0000096278" "PHKG2" "0000224014" "PHKG2" "0000224015" "PHKG2" "0000224016" "PHKG2" "0000330278" "PHKG2" "0000330279" "PHKG2" "0000330281" "PHKG2" "0000330307" "PHKG2" "0000391266" "CLN3" "0000467698" "PHKG2" "0000467699" "PHKG2" "0000467700" "PHKG2" "0000467701" "PHKG2" "0000467702" "PHKG2" "0000467703" "PHKG2" "0000467704" "PHKG2" "0000467705" "PHKG2" "0000467706" "PHKG2" "0000467707" "PHKG2" "0000467708" "PHKG2" "0000467709" "PHKG2" ## 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 = 57 "{{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}}" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000158245" "0" "70" "16" "30767945" "30767945" "subst" "0" "01864" "PHKG2_000012" "g.30767945G>A" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30756624G>A" "" "likely pathogenic" "" "0000158246" "0" "70" "16" "30768034" "30768034" "subst" "1.21906E-5" "01864" "PHKG2_000013" "g.30768034C>T" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30756713C>T" "" "likely pathogenic" "" "0000158247" "3" "90" "16" "30764791" "30764791" "subst" "4.06065E-6" "01864" "PHKG2_000006" "g.30764791G>A" "5/288" "PMID: 12930917" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753470G>A" "" "pathogenic" "" "0000158249" "3" "90" "16" "30764791" "30764791" "subst" "4.06065E-6" "01864" "PHKG2_000006" "g.30764791G>A" "5/288" "PMID: 12930917" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753470G>A" "" "pathogenic" "" "0000158252" "0" "90" "16" "30764791" "30764791" "subst" "4.06065E-6" "01864" "PHKG2_000006" "g.30764791G>A" "5/288" "PMID: 12930917" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753470G>A" "" "pathogenic" "" "0000158253" "0" "70" "16" "30764875" "30764875" "subst" "4.06105E-6" "01864" "PHKG2_000007" "g.30764875C>T" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753554C>T" "" "likely pathogenic" "" "0000158254" "0" "90" "16" "30764791" "30764791" "subst" "4.06065E-6" "01864" "PHKG2_000006" "g.30764791G>A" "5/288" "PMID: 12930917" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753470G>A" "" "pathogenic" "" "0000158255" "0" "70" "16" "30767805" "30767805" "del" "0" "01864" "PHKG2_000008" "g.30767805del" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30756484del" "" "likely pathogenic" "" "0000158258" "0" "70" "16" "30762497" "30762497" "subst" "0" "01864" "PHKG2_000005" "g.30762497G>T" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30751176G>T" "" "likely pathogenic" "" "0000158260" "0" "70" "16" "30762475" "30762475" "delins" "0" "01864" "PHKG2_000004" "g.30762475delinsTCTGGTCG" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30751154delinsTCTGGTCG" "" "likely pathogenic" "" "0000158261" "0" "90" "16" "30764791" "30764791" "subst" "4.06065E-6" "01864" "PHKG2_000006" "g.30764791G>A" "5/288" "PMID: 12930917" "" "" "" "Germline" "yes" "" "0" "" "" "g.30753470G>A" "" "pathogenic" "" "0000158262" "0" "70" "16" "30767944" "30767944" "subst" "4.06412E-6" "01864" "PHKG2_000011" "g.30767944C>T" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30756623C>T" "" "likely pathogenic" "" "0000256528" "0" "50" "16" "30774748" "30774748" "subst" "0" "01943" "RNF40_000001" "g.30774748A>G" "" "" "" "RNF40(NM_014771.3):c.310A>G (p.T104A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30763427A>G" "" "VUS" "" "0000324730" "0" "50" "16" "30768843" "30768843" "subst" "8.12625E-6" "01804" "C16orf93_000001" "g.30768843C>T" "" "" "" "C16orf93(NM_001014979.2):c.950G>A (p.(Arg317Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30757522C>T" "" "VUS" "" "0000324731" "0" "50" "16" "30768958" "30768958" "subst" "1.62993E-5" "01804" "C16orf93_000002" "g.30768958G>A" "" "" "" "C16orf93(NM_001014979.2):c.835C>T (p.(Arg279Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30757637G>A" "" "VUS" "" "0000324732" "0" "50" "16" "30770380" "30770380" "subst" "0.000296454" "01804" "C16orf93_000003" "g.30770380G>A" "" "" "" "C16orf93(NM_001014979.2):c.770C>T (p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30759059G>A" "" "VUS" "" "0000324733" "0" "50" "16" "30770989" "30770989" "subst" "0" "01804" "C16orf93_000004" "g.30770989A>C" "" "" "" "C16orf93(NM_001014979.2):c.526T>G (p.(Cys176Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30759668A>C" "" "VUS" "" "0000455788" "1" "75" "16" "30762416" "30762416" "subst" "2.44447E-5" "02976" "PHKG2_000001" "g.30762416G>A" "" "" "" "" "patient hemizygous for PHKA2 variant which is probably pathogenic" "Unknown" "" "" "0" "" "" "g.30751095G>A" "" "likely pathogenic" "" "0000455789" "10" "75" "16" "30764773" "30764773" "subst" "0" "02976" "PHKG2_000002" "g.30764773C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.30753452C>T" "" "likely pathogenic" "" "0000455790" "20" "75" "16" "30764773" "30764773" "subst" "0" "02976" "PHKG2_000002" "g.30764773C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.30753452C>T" "" "likely pathogenic" "" "0000455791" "10" "95" "16" "30768155" "30768155" "subst" "4.06507E-6" "02976" "PHKG2_000003" "g.30768155C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.30756834C>T" "" "pathogenic" "" "0000455792" "20" "95" "16" "30768155" "30768155" "subst" "4.06507E-6" "02976" "PHKG2_000003" "g.30768155C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.30756834C>T" "" "pathogenic" "" "0000557912" "0" "10" "16" "30762640" "30762640" "subst" "0.991798" "02327" "C16orf93_000007" "g.30762640C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30751319C>T" "" "benign" "" "0000557913" "0" "30" "16" "30762886" "30762886" "subst" "0.00152678" "01943" "C16orf93_000008" "g.30762886C>T" "" "" "" "PHKG2(NM_000294.2):c.288C>T (p.S96=), PHKG2(NM_000294.3):c.288C>T (p.(Ser96=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30751565C>T" "" "likely benign" "" "0000557914" "0" "30" "16" "30762916" "30762916" "subst" "0.000190846" "01943" "C16orf93_000009" "g.30762916G>T" "" "" "" "PHKG2(NM_000294.2):c.318G>T (p.V106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30751595G>T" "" "likely benign" "" "0000557916" "0" "30" "16" "30772923" "30772923" "subst" "0.000302714" "01804" "C16orf93_000010" "g.30772923C>T" "" "" "" "C16orf93(NM_001014979.2):c.147G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30761602C>T" "" "likely benign" "" "0000557917" "0" "50" "16" "30773060" "30773060" "subst" "0" "01804" "C16orf93_000011" "g.30773060G>A" "" "" "" "C16orf93(NM_001014979.2):c.10C>T (p.(Arg4Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30761739G>A" "" "VUS" "" "0000557918" "0" "30" "16" "30773902" "30773902" "subst" "0" "01804" "C16orf93_000012" "g.30773902C>G" "" "" "" "RNF40(NM_001207033.1):c.36C>G (p.(Asp12Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30762581C>G" "" "likely benign" "" "0000615946" "0" "50" "16" "30768188" "30768188" "subst" "4.06402E-6" "01943" "C16orf93_000014" "g.30768188C>G" "" "" "" "PHKG2(NM_000294.2):c.991C>G (p.L331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30756867C>G" "" "VUS" "" "0000657824" "0" "50" "16" "30760206" "30760206" "subst" "0" "01943" "C16orf93_000015" "g.30760206A>G" "" "" "" "PHKG2(NM_000294.2):c.65A>G (p.Q22R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30748885A>G" "" "VUS" "" "0000657825" "0" "30" "16" "30767709" "30767709" "subst" "0" "01943" "C16orf93_000016" "g.30767709G>A" "" "" "" "PHKG2(NM_000294.2):c.669G>A (p.L223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30756388G>A" "" "likely benign" "" "0000692046" "0" "30" "16" "30764882" "30764883" "dup" "0" "01943" "C16orf93_000017" "g.30764882_30764883dup" "" "" "" "PHKG2(NM_000294.2):c.556+3_556+4dupGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000714809" "3" "90" "16" "30767911" "30767914" "del" "0" "00000" "PHKG2_000017" "g.30767911_30767914del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "delATCT ex9 I268PfsX12" "" "Germline" "" "" "0" "" "" "g.30756590_30756593del" "" "pathogenic (recessive)" "" "0000714810" "3" "90" "16" "30762869" "30762869" "subst" "0" "00000" "PHKG2_000015" "g.30762869G>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.30751548G>C" "" "pathogenic (recessive)" "" "0000714812" "1" "90" "16" "30764824" "30764824" "subst" "8.1213E-6" "00000" "PHKG2_000016" "g.30764824C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "p.R168X" "" "Germline" "" "" "0" "" "" "g.30753503C>T" "" "pathogenic (recessive)" "" "0000714838" "1" "90" "16" "30768183" "30768183" "subst" "0.000126009" "00000" "PHKG2_000019" "g.30768183G>A" "" "{PMID:Wang 2013:22899091}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.30756862G>A" "" "pathogenic (recessive)" "" "0000714874" "2" "90" "16" "30767968" "30767968" "subst" "0" "00000" "PHKG2_000018" "g.30767968C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "p.Q287X" "" "Germline" "" "" "0" "" "" "g.30756647C>T" "" "pathogenic (recessive)" "" "0000807356" "0" "50" "16" "30768228" "30768228" "subst" "5.28464E-5" "01943" "C16orf93_000018" "g.30768228G>A" "" "" "" "PHKG2(NM_000294.2):c.1031G>A (p.R344Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000854480" "0" "30" "16" "30764715" "30764715" "subst" "0.00127553" "01943" "C16orf93_000019" "g.30764715G>A" "" "" "" "PHKG2(NM_000294.2):c.393G>A (p.R131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854481" "0" "30" "16" "30768030" "30768030" "subst" "0.000190984" "01943" "C16orf93_000020" "g.30768030G>T" "" "" "" "PHKG2(NM_000294.2):c.921G>T (p.R307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981853" "0" "30" "16" "30762886" "30762886" "subst" "0.00152678" "01804" "C16orf93_000008" "g.30762886C>T" "" "" "" "PHKG2(NM_000294.2):c.288C>T (p.S96=), PHKG2(NM_000294.3):c.288C>T (p.(Ser96=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987855" "0" "70" "16" "30762443" "30762443" "subst" "4.06706E-6" "03779" "PHKG2_000020" "g.30762443G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1353903670" "0" "" "" "" "" "likely pathogenic" "" "0001002257" "0" "50" "16" "30768272" "30768272" "subst" "2.44471E-5" "01804" "C16orf93_000022" "g.30768272G>A" "" "" "" "PHKG2(NM_000294.2):c.1075G>A (p.(Gly359Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046944" "3" "90" "16" "30760204" "30760204" "subst" "0" "01864" "PHKG2_000021" "g.30760204C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30748883C>G" "" "pathogenic (recessive)" "" "0001046945" "11" "90" "16" "30760220" "30760230" "del" "0" "01864" "PHKG2_000022" "g.30760220_30760230del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30748899_30748909del" "" "pathogenic (recessive)" "ACMG" "0001046950" "21" "90" "16" "30760237" "30760237" "subst" "0" "01864" "PHKG2_000023" "g.30760237G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30748916G>T" "" "pathogenic (recessive)" "ACMG" "0001046951" "21" "90" "16" "30762497" "30762497" "subst" "0" "01864" "PHKG2_000005" "g.30762497G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30751176G>T" "" "pathogenic (recessive)" "ACMG" "0001046952" "21" "90" "16" "30764559" "30764559" "del" "0" "01864" "PHKG2_000024" "g.30764559del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30753238del" "" "pathogenic (recessive)" "ACMG" "0001046953" "11" "90" "16" "30764714" "30764714" "subst" "0" "01864" "PHKG2_000025" "g.30764714G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30753393G>C" "" "pathogenic (recessive)" "ACMG" "0001046954" "21" "90" "16" "30764839" "30764839" "subst" "0" "01864" "PHKG2_000026" "g.30764839G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30753518G>A" "" "likely pathogenic (recessive)" "ACMG" "0001046955" "11" "90" "16" "30767502" "30767502" "subst" "0" "01864" "PHKG2_000027" "g.30767502G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30756181G>C" "" "pathogenic (recessive)" "ACMG" "0001046956" "3" "70" "16" "30767712" "30767712" "subst" "0" "01864" "PHKG2_000028" "g.30767712C>G" "" "" "Qiu\'s lab" "" "" "Germline" "" "" "0" "" "" "g.30756391C>G" "" "likely pathogenic (recessive)" "ACMG" "0001046957" "0" "50" "16" "30767786" "30767786" "subst" "0" "01864" "PHKG2_000029" "g.30767786A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.30756465A>C" "" "VUS" "ACMG" "0001046958" "21" "90" "16" "30767805" "30767805" "del" "0" "01864" "PHKG2_000030" "g.30767805del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30756484del" "" "pathogenic (recessive)" "ACMG" "0001046959" "3" "70" "16" "30767979" "30767981" "del" "0" "01864" "PHKG2_000031" "g.30767979_30767981del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30756658_30756660del" "" "likely pathogenic (recessive)" "ACMG" ## 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 PHKG2 ## Count = 57 "{{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}}" "0000079608" "00016102" "00" "-3576679" "0" "1121487" "0" "c.-3576679_*1120266dup" "" "" "" "0000158245" "00016102" "70" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "8" "0000158246" "00016102" "70" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Trp)" "8" "0000158247" "00016102" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Glu157Lys)" "6" "0000158249" "00016102" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Glu157Lys)" "6" "0000158252" "00016102" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Glu157Lys)" "6" "0000158253" "00016102" "70" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185*)" "5" "0000158254" "00016102" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Glu157Lys)" "6" "0000158255" "00016102" "70" "765" "0" "765" "0" "c.765del" "r.(?)" "p.(Glu256Serfs*12)" "8" "0000158258" "00016102" "70" "166" "0" "166" "0" "c.166G>T" "r.(?)" "p.(Glu56*)" "3" "0000158260" "00016102" "70" "144" "0" "144" "0" "c.144delinsTCTGGTCG" "r.(?)" "p.(Glu49Leufs*14)" "2" "0000158261" "00016102" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Glu157Lys)" "6" "0000158262" "00016102" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "9" "0000256528" "00016102" "50" "7551" "0" "7551" "0" "c.*6330A>G" "r.(=)" "p.(=)" "" "0000324730" "00016102" "50" "1639" "0" "1639" "0" "c.*418C>T" "r.(=)" "p.(=)" "" "0000324731" "00016102" "50" "1754" "0" "1754" "0" "c.*533G>A" "r.(=)" "p.(=)" "" "0000324732" "00016102" "50" "3176" "0" "3176" "0" "c.*1955G>A" "r.(=)" "p.(=)" "" "0000324733" "00016102" "50" "3785" "0" "3785" "0" "c.*2564A>C" "r.(=)" "p.(=)" "" "0000455788" "00016102" "75" "96" "-11" "96" "-11" "c.96-11G>A" "r.spl?" "p.(=)" "2i" "0000455789" "00016102" "75" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(His151Tyr)" "6" "0000455790" "00016102" "75" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(His151Tyr)" "6" "0000455791" "00016102" "95" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "10" "0000455792" "00016102" "95" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "10" "0000557912" "00016102" "10" "271" "38" "271" "38" "c.271+38C>T" "r.(=)" "p.(=)" "" "0000557913" "00016102" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Ser96=)" "" "0000557914" "00016102" "30" "318" "0" "318" "0" "c.318G>T" "r.(?)" "p.(Val106=)" "" "0000557916" "00016102" "30" "5726" "0" "5726" "0" "c.*4505C>T" "r.(=)" "p.(=)" "" "0000557917" "00016102" "50" "5863" "0" "5863" "0" "c.*4642G>A" "r.(=)" "p.(=)" "" "0000557918" "00016102" "30" "6705" "0" "6705" "0" "c.*5484C>G" "r.(=)" "p.(=)" "" "0000615946" "00016102" "50" "991" "0" "991" "0" "c.991C>G" "r.(?)" "p.(Leu331Val)" "" "0000657824" "00016102" "50" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Gln22Arg)" "" "0000657825" "00016102" "30" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Leu223=)" "" "0000692046" "00016102" "30" "556" "4" "556" "5" "c.556+4_556+5dup" "r.spl?" "p.?" "" "0000714809" "00016102" "90" "802" "0" "805" "0" "c.802_805del" "r.spl?" "p.(Ile268Profs*12)" "" "0000714810" "00016102" "90" "272" "-1" "272" "-1" "c.272-1G>C" "r.spl" "p.?" "" "0000714812" "00016102" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168*)" "" "0000714838" "00016102" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000714874" "00016102" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Gln287*)" "" "0000807356" "00016102" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344Gln)" "" "0000820998" "00016102" "70" "-2659829" "0" "3832803" "0" "c.-2659829_*3831582del" "r.0?" "p.0?" "" "0000854480" "00016102" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Arg131=)" "" "0000854481" "00016102" "30" "921" "0" "921" "0" "c.921G>T" "r.(?)" "p.(Arg307=)" "" "0000981853" "00016102" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Ser96=)" "" "0000987855" "00016102" "70" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Ile)" "" "0001002257" "00016102" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "" "0001046944" "00016102" "90" "63" "0" "63" "0" "c.63C>G" "r.(?)" "p.(Tyr21*)" "" "0001046945" "00016102" "90" "79" "0" "89" "0" "c.79_89del" "r.(79_89del)" "p.(Lys27Argfs*30)" "" "0001046950" "00016102" "90" "95" "1" "95" "1" "c.95+1G>T" "r.spl" "p.?" "" "0001046951" "00016102" "90" "166" "0" "166" "0" "c.166G>T" "r.(?)" "p.(Glu56*)" "" "0001046952" "00016102" "90" "333" "0" "333" "0" "c.333del" "r.(333del)" "p.(Lys112Argfs*30)" "" "0001046953" "00016102" "90" "393" "-1" "393" "-1" "c.393-1G>C" "r.spl" "p.?" "" "0001046954" "00016102" "90" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Arg)" "" "0001046955" "00016102" "90" "557" "-1" "557" "-1" "c.557-1G>C" "r.spl" "p.?" "" "0001046956" "00016102" "70" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Phe224Leu)" "" "0001046957" "00016102" "50" "746" "0" "746" "0" "c.746A>C" "r.(?)" "p.(Gln249Pro)" "" "0001046958" "00016102" "90" "761" "0" "761" "0" "c.761del" "r.(761del)" "p.(Glu256Serfs*12)" "" "0001046959" "00016102" "70" "870" "0" "872" "0" "c.870_872del" "r.(870_872del)" "p.(Phe291del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000050628" "0000079608" "0000096271" "0000158245" "0000096271" "0000158246" "0000096272" "0000158247" "0000096273" "0000158249" "0000096274" "0000158252" "0000096274" "0000158253" "0000096275" "0000158254" "0000096275" "0000158255" "0000096277" "0000158258" "0000096277" "0000158260" "0000096278" "0000158261" "0000096278" "0000158262" "0000224014" "0000455788" "0000224015" "0000455789" "0000224015" "0000455790" "0000224016" "0000455791" "0000224016" "0000455792" "0000330278" "0000714809" "0000330279" "0000714810" "0000330281" "0000714812" "0000330281" "0000714874" "0000330307" "0000714838" "0000391266" "0000820998" "0000467698" "0001046944" "0000467699" "0001046945" "0000467700" "0001046950" "0000467701" "0001046951" "0000467702" "0001046952" "0000467703" "0001046953" "0000467704" "0001046954" "0000467705" "0001046955" "0000467706" "0001046956" "0000467707" "0001046957" "0000467708" "0001046958" "0000467709" "0001046959"