### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FGD4)
# 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}}"
"FGD4" "FYVE, RhoGEF and PH domain containing 4" "12" "p11.1" "unknown" "NG_008626.2" "UD_132084460946" "" "https://www.LOVD.nl/FGD4" "" "1" "19125" "121512" "611104" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/FGD4_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2019-02-05 12:37:43" "00000" "2025-05-05 21:14:00"
## 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}}"
"00007902" "FGD4" "FYVE, RhoGEF and PH domain containing 4" "001" "NM_139241.2" "" "NP_640334.2" "" "" "" "-477" "7818" "2301" "32655041" "32798984" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"02845" "CMT4H" "Charcot-Marie-Tooth disease, type 4H (CMT-4H)" "AR" "609311" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FGD4" "02845"
## Individuals ## Do not remove or alter this header ##
## Count = 25
"{{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}}"
"00035801" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035802" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035803" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035804" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00151860" "" "" "" "1" "" "00006" "{PMID:Stendel 2007:17564972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "17564972-FamCMT230"
"00151861" "" "" "" "2" "" "00006" "{PMID:Houlden 2009:19221294}" "5-generation family, affected brother/sister, unaffected heterozygous carrier mother" "F;M" "" "Ireland" "" "0" "" "" "Belfast" "19221294-Fam"
"00151862" "" "" "" "8" "" "00006" "{PMID:Delague 2007:17564959}" "5-generation family, 8 affected (F, 7M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "" "17564959-Fam500"
"00151863" "" "" "" "1" "" "00006" "{PMID:Stendel 2007:17564972}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "17564972-FamNP447"
"00151864" "" "" "" "1" "" "00006" "{PMID:Stendel 2007:17564972}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "India" "" "0" "" "" "Tamil" "17564972-FamNP3"
"00151865" "" "" "" "4" "" "00006" "{PMID:Delague 2007:17564959}" "2-generation family, 4 affecteds (4M), unaffected heterozygous carrier parents" "M" "yes" "Algeria" "" "0" "" "" "" "17564959-Fam295"
"00151866" "" "" "" "1" "" "00006" "{PMID:Stendel 2007:17564972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" "" "0" "" "" "" "17564972-FamCMT244"
"00219052" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat62"
"00290678" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00300045" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FGD4-a"
"00300109" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FGD4-b"
"00397490" "" "" "" "1" "" "04212" "{PMID:Baudot 2012:22734899}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" ">21y" "0" "" "" "" "Pat1"
"00397491" "" "" "" "1" "" "04212" "{PMID:Baudot 2012:22734899}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Algeria" ">16y" "0" "" "" "" "Pat2"
"00398211" "" "" "" "1" "" "04209" "{PMID:Hyun 2015:26400421}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "Korea" "FC646"
"00398212" "" "" "" "1" "" "04209" "{PMID:Hyun 2015:26400421}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "Korea" "FC73"
"00398541" "" "" "" "3" "" "00006" "{PMID:Hyun 2015:26400421}" "3 families" "" "" "Korea" "" "0" "" "" "Korea" ""
"00398542" "" "" "" "14" "" "00006" "{PMID:Hyun 2015:26400421}" "14 families" "" "" "Korea" "" "0" "" "" "Korea" ""
"00398543" "" "" "" "1" "" "00006" "{PMID:Hyun 2015:26400421}" "" "" "" "Korea" "" "0" "" "" "Korea" ""
"00398544" "" "" "" "1" "" "00006" "{PMID:Hyun 2015:26400421}" "" "" "" "Korea" "" "0" "" "" "Korea" ""
"00398545" "" "" "" "2" "" "00006" "{PMID:Hyun 2015:26400421}" "2 families" "" "" "Korea" "" "0" "" "" "Korea" ""
"00404077" "" "" "" "3" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 22
"{{individualid}}" "{{diseaseid}}"
"00035802" "00198"
"00151860" "05113"
"00151861" "05113"
"00151862" "05113"
"00151863" "05113"
"00151864" "05113"
"00151865" "05113"
"00151866" "05113"
"00219052" "05113"
"00290678" "00198"
"00300045" "05113"
"00300109" "05113"
"00397490" "05113"
"00397491" "05113"
"00398211" "05113"
"00398212" "05113"
"00398541" "05113"
"00398542" "05113"
"00398543" "05113"
"00398544" "05113"
"00398545" "05113"
"00404077" "02845"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02845, 05113
## Count = 16
"{{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}}"
"0000124223" "05113" "00151860" "00006" "Familial, autosomal recessive" "30y" "delayed walking, diagnosis infancy, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with decreased sensibility, no scoliosis, absent reflexes lower extremities/present upper" "" "" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease (CMT)" ""
"0000124224" "05113" "00151861" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease (CMT)" ""
"0000124225" "05113" "00151862" "00006" "Familial, autosomal recessive" "" "early-onset demyelinating neuropathy" "" "" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease (CMT)" ""
"0000124226" "05113" "00151863" "00006" "Familial, autosomal recessive" "08y" "2y2m-walking, distal weakness marked in the lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities, myelin outfodings" "" "02y" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease (CMT)" ""
"0000124227" "05113" "00151864" "00006" "Familial, autosomal recessive" "11y" "1y4m-walking, distal weakness mild in lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities" "" "09y" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease (CMT)" ""
"0000124228" "05113" "00151865" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000124229" "05113" "00151866" "00006" "Familial, autosomal recessive" "13y" "1y-walking, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with absent sensibility, sever scoliosis, absent reflexes upper/lower extremities, myelin outfodings" "" "04y" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth disease" ""
"0000156269" "00198" "00035802" "01164" "Unknown" "" "suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" ""
"0000167609" "05113" "00219052" "00006" "Unknown" "" "CMT4H; no family history" "" "" "" "" "" "" "" "" "CMT-4H" "Charcot-Marie-Tooth diseae" ""
"0000227366" "05113" "00300045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000227430" "05113" "00300109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000290776" "05113" "00397490" "04212" "Unknown" "21y" "see paper; born at term, uneventful pregnancy, normal fetal movements, normal delivery; birth weight, length, head circumference normal; no motor delay (-HP:0001270), 14m-walk, mild ataxia (HP:0001251); 5y-walk tip toes (HP:0030051); no intellectual disability (-HP:0001256), bilateral steppage gait (HP:0003376), symmetrical atrophy intrinsic hand muscles (HP:0008954), muscular atrophy below knees (HP:0008944), pes cavus (HP:0001761), slightly diminished distal muscle strength upper and lower limbs; no osteotendinous reflexes (HP:0001315); normal cranial nerve; no scoliosis (-HP:0002650), no ocular signs, no internal organ anomalies, ..." "05y" "" "ataxia (HP:0001251)" "" "" "" "" "" "CMT4H" "Charcot-Marie-Tooth disease" ""
"0000290777" "05113" "00397491" "04212" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "" "CMT4H" "Charcot-Marie-Tooth disease" ""
"0000291673" "05113" "00398211" "04209" "Familial, autosomal recessive" "20y" "see paper; ..., distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959),\r\nscoliosis (HP:0002650), Areflexia (HP:0001284), Distal amyotrophy (HP:0003693), Postural instability (HP:0002172), Decreased motor nerve conduction velocity (HP:0003431), Distal sensory impairment (HP:0002936), Demyelinating sensory neuropathy (HP:0011402), Onion bulb formation (HP:0003383)" "06y" "" "Gait disturbance (HP:0001288), Pes cavus (HP:0001761)" "" "" "" "" "" "CMT4H" "Charcot-Marie-Tooth disease" ""
"0000291674" "05113" "00398212" "04209" "Familial, autosomal recessive" "46y" "see paper;Pes cavus (HP:0001761), Difficulty walking (HP:0002355), Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959),\r\nscoliosis (HP:0002650), Areflexia (HP:0001284), Distal amyotrophy (HP:0003693), Postural instability (HP:0002172), Distal sensory impairment (HP:0002936), Demyelinating sensory neuropathy (HP:0011402)" "08y" "" "Gait disturbance (HP:0001288), Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMT4H" "Charcot-Marie-Tooth disease" ""
"0000296669" "02845" "00404077" "00435" "Familial, autosomal recessive" "54y" "54-y women with progressive weakness and wasting of both upper and lower limbs, trophic changes, stocking and glove hypesthesia, deep sensory loss and pes cavus. Nerve conduction velocity study showed demyelinating neuropathy." "35y" "" "" "" "" "" "" "" "CMT4H" "Autosomal recessive Hereditary sensorimotor neuropathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 25
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000035871" "00035801" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035872" "00035802" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035873" "00035803" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035874" "00035804" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000152717" "00151860" "1" "00006" "00006" "2012-11-05 15:13:21" "" "" "SEQ" "DNA" "" ""
"0000152718" "00151861" "1" "00006" "00006" "2012-11-05 15:13:21" "00006" "2018-01-27 17:07:07" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152719" "00151862" "1" "00006" "00006" "2012-11-05 15:13:21" "00006" "2018-01-27 16:40:13" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152720" "00151863" "1" "00006" "00006" "2012-11-05 15:13:21" "" "" "SEQ" "DNA" "" ""
"0000152721" "00151864" "1" "00006" "00006" "2012-11-05 15:13:21" "" "" "SEQ" "DNA" "" ""
"0000152722" "00151865" "1" "00006" "00006" "2018-01-27 16:43:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152723" "00151866" "1" "00006" "00006" "2018-01-27 16:52:25" "" "" "SEQ" "DNA" "" ""
"0000220124" "00219052" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel"
"0000291846" "00290678" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000301161" "00300045" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000301225" "00300109" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000398729" "00397490" "1" "04212" "04212" "2021-12-22 11:59:03" "00006" "2021-12-27 15:14:01" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000398730" "00397491" "1" "04212" "04212" "2021-12-22 12:09:17" "" "" "SEQ" "DNA" "" ""
"0000399455" "00398211" "1" "04209" "04209" "2022-01-01 17:57:22" "00006" "2022-01-06 13:07:35" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000399456" "00398212" "1" "04209" "04209" "2022-01-01 18:39:53" "" "" "SEQ-NG" "DNA" "" "WES"
"0000399787" "00398541" "1" "00006" "00006" "2022-01-06 13:20:44" "00006" "2022-01-06 13:25:17" "SEQ-NG" "DNA" "" "WES"
"0000399788" "00398542" "1" "00006" "00006" "2022-01-06 13:22:35" "" "" "SEQ-NG" "DNA" "" "WES"
"0000399789" "00398543" "1" "00006" "00006" "2022-01-06 13:29:05" "" "" "SEQ-NG" "DNA" "" "WES"
"0000399790" "00398544" "1" "00006" "00006" "2022-01-06 13:31:32" "" "" "SEQ-NG" "DNA" "" "WES"
"0000399791" "00398545" "1" "00006" "00006" "2022-01-06 13:33:09" "" "" "SEQ-NG" "DNA" "" "WES"
"0000405314" "00404077" "1" "00435" "00435" "2022-02-25 23:18:37" "" "" "SEQ" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 24
"{{screeningid}}" "{{geneid}}"
"0000035871" "FGD4"
"0000035872" "FGD4"
"0000035873" "FGD4"
"0000035874" "FGD4"
"0000152717" "FGD4"
"0000152718" "FGD4"
"0000152719" "FGD4"
"0000152720" "FGD4"
"0000152721" "FGD4"
"0000152722" "FGD4"
"0000152723" "FGD4"
"0000220124" "FGD4"
"0000301161" "FGD4"
"0000301225" "FGD4"
"0000398729" "FGD4"
"0000398730" "FGD4"
"0000399455" "FGD4"
"0000399456" "FGD4"
"0000399787" "FGD4"
"0000399788" "FGD4"
"0000399789" "FGD4"
"0000399790" "FGD4"
"0000399791" "FGD4"
"0000405314" "FGD4"
## 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 = 95
"{{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}}"
"0000062996" "1" "10" "12" "32655272" "32655272" "subst" "0" "01164" "FGD4_000030" "g.32655272G>C" "" "" "" "" "c.-92-73928 laut Alamut" "Germline" "" "" "0" "" "" "g.32502338G>C" "" "benign" ""
"0000062997" "1" "50" "12" "32786852" "32786852" "subst" "0" "01164" "FGD4_000001" "g.32786852G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32633918G>A" "" "VUS" ""
"0000062998" "1" "10" "12" "32755259" "32755259" "subst" "0.0791359" "01164" "FGD4_000003" "g.32755259G>A" "" "" "" "" "" "Germline" "" "rs12823621" "0" "" "" "g.32602325G>A" "" "benign" ""
"0000062999" "1" "50" "12" "32793164" "32793164" "subst" "0.0590314" "01164" "FGD4_000002" "g.32793164A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32640230A>G" "" "VUS" ""
"0000247113" "0" "10" "12" "32735056" "32735056" "subst" "0.00124682" "02330" "FGD4_000032" "g.32735056A>T" "" "" "" "FGD4(NM_139241.3):c.255A>T (p.A85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32582122A>T" "" "benign" ""
"0000247150" "0" "10" "12" "32794600" "32794600" "subst" "0" "02330" "FGD4_000025" "g.32794600A>C" "" "" "" "FGD4(NM_139241.3):c.*1133A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32641666A>C" "" "benign" ""
"0000247151" "0" "10" "12" "32794921" "32794921" "subst" "0" "02330" "FGD4_000026" "g.32794921A>G" "" "" "" "FGD4(NM_139241.3):c.*1454A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32641987A>G" "" "benign" ""
"0000247152" "0" "10" "12" "32795421" "32795421" "subst" "0" "02330" "FGD4_000028" "g.32795421A>G" "" "" "" "FGD4(NM_139241.3):c.*1954A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32642487A>G" "" "benign" ""
"0000247153" "0" "10" "12" "32797905" "32797905" "subst" "0" "02330" "FGD4_000036" "g.32797905A>G" "" "" "" "FGD4(NM_139241.3):c.*4438A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32644971A>G" "" "benign" ""
"0000247177" "0" "50" "12" "32735182" "32735182" "subst" "6.49783E-5" "02330" "FGD4_000033" "g.32735182A>G" "" "" "" "FGD4(NM_139241.3):c.381A>G (p.I127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32582248A>G" "" "VUS" ""
"0000247186" "0" "50" "12" "32764069" "32764069" "subst" "0" "02330" "FGD4_000037" "g.32764069A>G" "" "" "" "FGD4(NM_001304484.2):c.160-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32611135A>G" "" "VUS" ""
"0000276692" "0" "10" "12" "32754367" "32754367" "subst" "0.0086018" "02330" "FGD4_000010" "g.32754367G>T" "" "" "" "FGD4(NM_001304484.2):c.-216+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32601433G>T" "" "benign" ""
"0000276693" "0" "10" "12" "32755259" "32755259" "subst" "0.0791359" "02330" "FGD4_000003" "g.32755259G>A" "" "" "" "FGD4(NM_001304484.2):c.-59+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32602325G>A" "" "benign" ""
"0000276694" "0" "10" "12" "32794959" "32794959" "subst" "0" "02330" "FGD4_000027" "g.32794959T>G" "" "" "" "FGD4(NM_139241.3):c.*1492T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32642025T>G" "" "benign" ""
"0000276695" "0" "10" "12" "32797237" "32797237" "subst" "0" "02330" "FGD4_000029" "g.32797237G>T" "" "" "" "FGD4(NM_139241.3):c.*3770G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32644303G>T" "" "benign" ""
"0000276697" "0" "50" "12" "32793315" "32793315" "subst" "0.00128867" "02330" "FGD4_000024" "g.32793315G>A" "" "" "" "FGD4(NM_001304484.1):c.1117G>A (p.V373M), FGD4(NM_001304484.2):c.1117G>A (p.V373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32640381G>A" "" "VUS" ""
"0000276698" "0" "10" "12" "32764184" "32764184" "subst" "0.294322" "02330" "FGD4_000015" "g.32764184G>A" "" "" "" "FGD4(NM_001304484.2):c.273G>A (p.R91=), FGD4(NM_139241.3):c.1305G>A (p.R435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32611250G>A" "" "benign" ""
"0000276699" "0" "10" "12" "32772620" "32772620" "subst" "0.100704" "02330" "FGD4_000016" "g.32772620C>T" "" "" "" "FGD4(NM_139241.3):c.1339-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32619686C>T" "" "benign" ""
"0000276700" "0" "10" "12" "32777362" "32777362" "subst" "0.286742" "02330" "FGD4_000018" "g.32777362G>A" "" "" "" "FGD4(NM_001304484.2):c.486G>A (p.A162=), FGD4(NM_139241.3):c.1518G>A (p.A506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32624428G>A" "" "benign" ""
"0000276701" "0" "90" "12" "32778708" "32778708" "subst" "1.2185E-5" "02330" "FGD4_000023" "g.32778708G>T" "" "" "" "FGD4(NM_139241.3):c.1756G>T (p.G586*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32625774G>T" "" "pathogenic" ""
"0000276702" "0" "50" "12" "32735037" "32735037" "subst" "0.000678283" "02330" "FGD4_000031" "g.32735037C>T" "" "" "" "FGD4(NM_139241.3):c.236C>T (p.T79I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32582103C>T" "" "VUS" ""
"0000276703" "0" "50" "12" "32760957" "32760957" "subst" "4.06055E-6" "02330" "FGD4_000013" "g.32760957C>T" "" "" "" "FGD4(NM_001304484.2):c.28C>T (p.R10W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32608023C>T" "" "VUS" ""
"0000276704" "0" "10" "12" "32735236" "32735236" "subst" "0.410475" "02330" "FGD4_000034" "g.32735236C>T" "" "" "" "FGD4(NM_139241.3):c.435C>T (p.D145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32582302C>T" "" "benign" ""
"0000276705" "0" "10" "12" "32777359" "32777359" "subst" "0.00375041" "02330" "FGD4_000017" "g.32777359T>C" "" "" "" "FGD4(NM_001304484.2):c.483T>C (p.S161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32624425T>C" "" "benign" ""
"0000276706" "0" "10" "12" "32777889" "32777889" "subst" "0.100752" "02330" "FGD4_000019" "g.32777889T>G" "" "" "" "FGD4(NM_001304484.2):c.511-21T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32624955T>G" "" "benign" ""
"0000276707" "0" "10" "12" "32777927" "32777927" "subst" "0.00627853" "02330" "FGD4_000020" "g.32777927C>T" "" "" "" "FGD4(NM_001304484.2):c.528C>T (p.I176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32624993C>T" "" "benign" ""
"0000276708" "0" "50" "12" "32735370" "32735370" "subst" "6.60371E-5" "02330" "FGD4_000009" "g.32735370T>A" "" "" "" "FGD4(NM_139241.3):c.569T>A (p.L190Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32582436T>A" "" "VUS" ""
"0000276709" "0" "10" "12" "32778581" "32778581" "subst" "0.131206" "02330" "FGD4_000021" "g.32778581T>C" "" "" "" "FGD4(NM_001304484.2):c.604-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32625647T>C" "" "benign" ""
"0000276710" "0" "30" "12" "32778663" "32778663" "subst" "0.00331032" "02330" "FGD4_000022" "g.32778663C>A" "" "" "" "FGD4(NM_001304484.2):c.679C>A (p.P227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32625729C>A" "" "likely benign" ""
"0000276711" "0" "90" "12" "32755151" "32755151" "subst" "4.06161E-6" "02330" "FGD4_000008" "g.32755151T>C" "" "" "" "FGD4(NM_139241.3):c.893T>C (p.M298T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32602217T>C" "" "pathogenic" ""
"0000276712" "0" "90" "12" "32755151" "32755151" "subst" "0" "02330" "FGD4_000012" "g.32755151T>G" "" "" "" "FGD4(NM_139241.3):c.893T>G (p.M298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32602217T>G" "" "pathogenic" ""
"0000280774" "0" "10" "12" "32764184" "32764184" "subst" "0.294322" "02325" "FGD4_000015" "g.32764184G>A" "" "" "" "FGD4(NM_001304484.2):c.273G>A (p.R91=), FGD4(NM_139241.3):c.1305G>A (p.R435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32611250G>A" "" "benign" ""
"0000280775" "0" "10" "12" "32777362" "32777362" "subst" "0.286742" "02325" "FGD4_000018" "g.32777362G>A" "" "" "" "FGD4(NM_001304484.2):c.486G>A (p.A162=), FGD4(NM_139241.3):c.1518G>A (p.A506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32624428G>A" "" "benign" ""
"0000351552" "3" "90" "12" "32751500" "32751500" "subst" "0" "00006" "FGD4_000006" "g.32751500C>T" "" "{PMID:Stendel 2007:17564972}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32598566C>T" "" "pathogenic" ""
"0000351553" "3" "90" "12" "32754344" "32754344" "subst" "4.06497E-6" "00006" "FGD4_000007" "g.32754344C>T" "" "{PMID:Houlden 2009:19221294}" "" "723C>T" "" "Germline" "yes" "" "0" "" "" "g.32601410C>T" "" "pathogenic" ""
"0000351554" "3" "90" "12" "32755151" "32755151" "subst" "0" "00006" "FGD4_000012" "g.32755151T>G" "" "{PMID:Delague 2007:17564959}" "" "" "" "Germline" "" "" "0" "" "" "g.32602217T>G" "" "pathogenic" ""
"0000351555" "3" "90" "12" "32777995" "32777996" "del" "0" "00006" "FGD4_000004" "g.32777995_32777996del" "" "{PMID:Stendel 2007:17564972}" "" "1628_1629delAG" "" "Germline" "yes" "" "0" "" "" "g.32625061_32625062del" "" "pathogenic" ""
"0000351556" "3" "90" "12" "32778708" "32778708" "subst" "1.2185E-5" "00006" "FGD4_000005" "g.32778708G>T" "" "{PMID:Stendel 2007:17564972}" "" "" "" "Germline" "" "" "0" "" "" "g.32625774G>T" "" "pathogenic" ""
"0000351557" "3" "90" "12" "32755151" "32755151" "subst" "4.06161E-6" "00006" "FGD4_000008" "g.32755151T>C" "" "{PMID:Delague 2007:17564959}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32602217T>C" "" "pathogenic" ""
"0000351558" "3" "90" "12" "32755151" "32755151" "subst" "0" "00006" "FGD4_000012" "g.32755151T>G" "" "{PMID:Stendel 2007:17564972}" "" "" "" "Germline" "" "" "0" "" "" "g.32602217T>G" "" "pathogenic" ""
"0000455017" "2" "70" "12" "32729291" "32793468" "del" "0" "00006" "FGD4_000038" "g.(?_32729291)_(32793468_?)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "del entire gene" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000455018" "1" "70" "12" "32760982" "32760982" "subst" "0" "00006" "FGD4_000039" "g.32760982A>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pm3, pp3" "Germline" "" "" "0" "" "" "g.32608048A>C" "" "likely pathogenic" "ACMG"
"0000547817" "0" "30" "12" "32687323" "32687323" "subst" "0.00208058" "02330" "FGD4_000040" "g.32687323A>G" "" "" "" "FGD4(NM_001385118.1):c.-355A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32534389A>G" "" "likely benign" ""
"0000547818" "0" "10" "12" "32687352" "32687352" "subst" "0.0280791" "02330" "FGD4_000041" "g.32687352A>G" "" "" "" "FGD4(NM_001304480.1):c.11A>G (p.K4R), FGD4(NM_001385118.1):c.-326A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32534418A>G" "" "benign" ""
"0000547819" "0" "10" "12" "32687352" "32687352" "subst" "0.0280791" "02326" "FGD4_000041" "g.32687352A>G" "" "" "" "FGD4(NM_001304480.1):c.11A>G (p.K4R), FGD4(NM_001385118.1):c.-326A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32534418A>G" "" "benign" ""
"0000547820" "0" "50" "12" "32729256" "32729256" "subst" "0.000289046" "02330" "FGD4_000042" "g.32729256C>A" "" "" "" "FGD4(NM_001370298.3):c.376C>A (p.P126T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32576322C>A" "" "VUS" ""
"0000547821" "0" "50" "12" "32729341" "32729341" "subst" "0.00013811" "02330" "FGD4_000043" "g.32729341C>G" "" "" "" "FGD4(NM_139241.3):c.50C>G (p.P17R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32576407C>G" "" "VUS" ""
"0000547822" "0" "50" "12" "32735198" "32735198" "subst" "0.00024772" "02330" "FGD4_000044" "g.32735198G>A" "" "" "" "FGD4(NM_139241.3):c.397G>A (p.D133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32582264G>A" "" "VUS" ""
"0000547823" "0" "30" "12" "32735298" "32735298" "subst" "1.62633E-5" "01943" "FGD4_000045" "g.32735298C>G" "" "" "" "FGD4(NM_139241.3):c.497C>G (p.P166R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32582364C>G" "" "likely benign" ""
"0000547824" "0" "90" "12" "32751500" "32751500" "subst" "0" "02330" "FGD4_000006" "g.32751500C>T" "" "" "" "FGD4(NM_139241.3):c.670C>T (p.R224*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32598566C>T" "" "pathogenic" ""
"0000547825" "0" "10" "12" "32754253" "32754253" "subst" "0.00132035" "02330" "FGD4_000046" "g.32754253G>A" "" "" "" "FGD4(NM_139241.3):c.732G>A (p.S244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32601319G>A" "" "benign" ""
"0000547826" "0" "10" "12" "32760956" "32760956" "subst" "0.00733347" "02330" "FGD4_000047" "g.32760956C>T" "" "" "" "FGD4(NM_001304484.2):c.27C>T (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32608022C>T" "" "benign" ""
"0000547827" "0" "30" "12" "32761046" "32761046" "dup" "0" "02330" "FGD4_000048" "g.32761046dup" "" "" "" "FGD4(NM_001304484.2):c.100+17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32608112dup" "" "likely benign" ""
"0000547828" "0" "50" "12" "32772659" "32772659" "subst" "0.00140916" "02330" "FGD4_000049" "g.32772659C>A" "" "" "" "FGD4(NM_001304484.2):c.334C>A (p.P112T), FGD4(NM_139241.3):c.1366C>A (p.P456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32619725C>A" "" "VUS" ""
"0000547829" "0" "30" "12" "32772659" "32772659" "subst" "0.00140916" "02326" "FGD4_000049" "g.32772659C>A" "" "" "" "FGD4(NM_001304484.2):c.334C>A (p.P112T), FGD4(NM_139241.3):c.1366C>A (p.P456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32619725C>A" "" "likely benign" ""
"0000547830" "0" "10" "12" "32777902" "32777902" "subst" "0.00352979" "02330" "FGD4_000050" "g.32777902T>C" "" "" "" "FGD4(NM_001304484.2):c.511-8T>C, FGD4(NM_139241.3):c.1543-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32624968T>C" "" "benign" ""
"0000547831" "0" "10" "12" "32778611" "32778611" "subst" "0.00101118" "02330" "FGD4_000051" "g.32778611C>G" "" "" "" "FGD4(NM_001304484.2):c.627C>G (p.A209=), FGD4(NM_139241.3):c.1659C>G (p.A553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32625677C>G" "" "benign" ""
"0000547832" "0" "10" "12" "32791796" "32791796" "subst" "0" "02330" "FGD4_000052" "g.32791796G>A" "" "" "" "FGD4(NM_139241.3):c.2043+67G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32638862G>A" "" "benign" ""
"0000614095" "0" "50" "12" "32687343" "32687343" "subst" "0.000598227" "02326" "FGD4_000053" "g.32687343T>C" "" "" "" "FGD4(NM_001304480.1):c.2T>C (p.M1?), FGD4(NM_001385118.1):c.-335T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32534409T>C" "" "VUS" ""
"0000614096" "0" "30" "12" "32717093" "32717093" "subst" "0" "02326" "FGD4_000054" "g.32717093C>T" "" "" "" "FGD4(NM_001304480.1):c.114C>T (p.I38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32564159C>T" "" "likely benign" ""
"0000614097" "0" "30" "12" "32735037" "32735037" "subst" "0.000678283" "02326" "FGD4_000031" "g.32735037C>T" "" "" "" "FGD4(NM_139241.3):c.236C>T (p.T79I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32582103C>T" "" "likely benign" ""
"0000622864" "0" "50" "12" "32793261" "32793261" "subst" "0.000113772" "02330" "FGD4_000055" "g.32793261A>G" "" "" "" "FGD4(NM_001304484.2):c.1063A>G (p.M355V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32640327A>G" "" "VUS" ""
"0000648535" "1" "50" "12" "32793315" "32793315" "subst" "0.00128867" "03575" "FGD4_000024" "g.32793315G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs61753359}" "Germline" "" "rs61753359" "0" "" "" "g.32640381G>A" "" "VUS" ""
"0000657076" "0" "30" "12" "32772641" "32772641" "subst" "8.52799E-5" "01943" "FGD4_000056" "g.32772641A>G" "" "" "" "FGD4(NM_001304484.1):c.316A>G (p.M106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32619707A>G" "" "likely benign" ""
"0000657077" "0" "50" "12" "32793315" "32793315" "subst" "0.00128867" "01943" "FGD4_000024" "g.32793315G>A" "" "" "" "FGD4(NM_001304484.1):c.1117G>A (p.V373M), FGD4(NM_001304484.2):c.1117G>A (p.V373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32640381G>A" "" "VUS" ""
"0000664056" "0" "70" "12" "32764208" "32764208" "subst" "0" "00006" "FGD4_000057" "g.32764208C>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.32611274C>A" "" "likely pathogenic (recessive)" ""
"0000664120" "0" "70" "12" "32764208" "32764208" "subst" "0" "00006" "FGD4_000057" "g.32764208C>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.32611274C>A" "" "likely pathogenic (recessive)" ""
"0000679493" "0" "50" "12" "32735280" "32735280" "subst" "0.000390082" "02330" "FGD4_000058" "g.32735280G>A" "" "" "" "FGD4(NM_139241.3):c.479G>A (p.G160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724003" "0" "30" "12" "32735056" "32735056" "subst" "0.00124682" "02326" "FGD4_000032" "g.32735056A>T" "" "" "" "FGD4(NM_139241.3):c.255A>T (p.A85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724004" "0" "30" "12" "32772695" "32772695" "subst" "0" "02330" "FGD4_000059" "g.32772695C>A" "" "" "" "FGD4(NM_001304484.2):c.370C>A (p.R124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000830960" "3" "90" "12" "32778650" "32778650" "subst" "0" "04212" "FGD4_000061" "g.32778650G>A" "" "{PMID:Baudot 2012:22734899}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.32625716G>A" "" "pathogenic (recessive)" ""
"0000830961" "3" "90" "12" "32764204" "32764204" "subst" "0" "04212" "FGD4_000060" "g.32764204G>A" "" "{PMID:Baudot 2012:22734899}" "" "" "" "Germline" "" "" "0" "" "" "g.32611270G>A" "" "pathogenic (recessive)" ""
"0000831953" "11" "90" "12" "32760931" "32760931" "subst" "0" "04209" "FGD4_000062" "g.32760931T>C" "1/297 patients" "{PMID:Hyun 2015:2640042}" "" "" "" "Germline" "" "" "0" "" "" "g.32607997T>C" "" "pathogenic (recessive)" ""
"0000831954" "11" "90" "12" "32772696" "32772696" "subst" "4.06091E-6" "04209" "FGD4_000063" "g.32772696G>A" "1/297 patients" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "" "0" "" "" "g.32619762G>A" "" "pathogenic (recessive)" ""
"0000832407" "21" "90" "12" "32791730" "32791730" "subst" "4.06911E-6" "04209" "FGD4_000064" "g.32791730G>A" "" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "" "0" "" "" "g.32638796G>A" "" "pathogenic (recessive)" ""
"0000832408" "21" "90" "12" "32777354" "32777354" "subst" "0" "04209" "FGD4_000065" "g.32777354A>G" "" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "" "0" "" "" "g.32624420A>G" "" "pathogenic (recessive)" ""
"0000832410" "1" "30" "12" "32735175" "32735175" "subst" "1.21832E-5" "00006" "FGD4_000067" "g.32735175C>T" "14/297 CMT families" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "rs200732890" "0" "" "" "" "" "likely benign" ""
"0000832411" "1" "30" "12" "32735004" "32735004" "subst" "6.90417E-5" "00006" "FGD4_000066" "g.32735004C>T" "3/297 CMT families" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "rs544427828" "0" "" "" "" "" "likely benign" ""
"0000832412" "1" "90" "12" "32778699" "32778699" "subst" "1.21832E-5" "00006" "FGD4_000068" "g.32778699C>T" "1/297 CMT families" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000832413" "1" "90" "12" "32760983" "32760983" "dup" "1.21832E-5" "00006" "FGD4_000069" "g.32760983dup" "1/297 CMT families" "{PMID:Hyun 2015:26400421}" "" "1086_1087insT" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000832414" "1" "50" "12" "32777950" "32777950" "subst" "1.21832E-5" "00006" "FGD4_000070" "g.32777950A>C" "2/297 CMT families" "{PMID:Hyun 2015:26400421}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000841399" "3" "90" "12" "32777917" "32777917" "subst" "0" "00435" "FGD4_000071" "g.32777917A>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000853375" "0" "30" "12" "32735280" "32735280" "subst" "0.000390082" "02326" "FGD4_000058" "g.32735280G>A" "" "" "" "FGD4(NM_139241.3):c.479G>A (p.G160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853376" "0" "50" "12" "32793263" "32793263" "subst" "0" "02330" "FGD4_000073" "g.32793263G>A" "" "" "" "FGD4(NM_001304484.2):c.1065G>A (p.M355I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862961" "0" "10" "12" "32552769" "32552769" "subst" "0.38487" "02330" "FGD4_000072" "g.32552769C>G" "" "" "" "FGD4(NM_001370298.3):c.42C>G (p.I14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890528" "0" "30" "12" "32778611" "32778611" "subst" "0.00101118" "02326" "FGD4_000051" "g.32778611C>G" "" "" "" "FGD4(NM_001304484.2):c.627C>G (p.A209=), FGD4(NM_139241.3):c.1659C>G (p.A553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913828" "0" "30" "12" "32552774" "32552774" "subst" "0.00117215" "02330" "FGD4_000074" "g.32552774G>A" "" "" "" "FGD4(NM_001370298.3):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913829" "0" "10" "12" "32755143" "32755143" "subst" "0.00049959" "02330" "FGD4_000075" "g.32755143C>T" "" "" "" "FGD4(NM_139241.3):c.885C>T (p.F295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000925618" "0" "30" "12" "32777393" "32777393" "subst" "0" "02330" "FGD4_000076" "g.32777393C>T" "" "" "" "FGD4(NM_001370298.3):c.1953+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930078" "0" "10" "12" "32777902" "32777902" "subst" "0.00352979" "02326" "FGD4_000050" "g.32777902T>C" "" "" "" "FGD4(NM_001304484.2):c.511-8T>C, FGD4(NM_139241.3):c.1543-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000930079" "0" "30" "12" "32797530" "32797530" "subst" "0" "02330" "FGD4_000077" "g.32797530A>G" "" "" "" "FGD4(NM_001384126.1):c.2635A>G (p.R879G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980228" "0" "30" "12" "32687343" "32687343" "subst" "0.000598227" "02330" "FGD4_000053" "g.32687343T>C" "" "" "" "FGD4(NM_001304480.1):c.2T>C (p.M1?), FGD4(NM_001385118.1):c.-335T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999956" "0" "30" "12" "32552826" "32552826" "subst" "0.000178486" "02330" "FGD4_000078" "g.32552826G>A" "" "" "" "FGD4(NM_001370298.3):c.99G>A (p.R33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039193" "0" "50" "12" "32751494" "32751494" "subst" "0.000500179" "01804" "FGD4_000079" "g.32751494G>A" "" "" "" "FGD4(NM_001370298.3):c.1075G>A (p.(Val359Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039194" "0" "50" "12" "32755195" "32755195" "subst" "1.21835E-5" "01804" "FGD4_000080" "g.32755195G>A" "" "" "" "FGD4(NM_001370298.3):c.1348G>A (p.(Val450Ile))" "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 FGD4
## Count = 95
"{{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}}"
"0000062996" "00007902" "10" "-246" "0" "-246" "0" "c.-246G>C" "r.(=)" "p.(=)" ""
"0000062997" "00007902" "50" "1902" "229" "1902" "229" "c.1902+229G>A" "r.(=)" "p.(=)" ""
"0000062998" "00007902" "10" "993" "8" "993" "8" "c.993+8G>A" "r.(=)" "p.(=)" ""
"0000062999" "00007902" "50" "2044" "-46" "2044" "-46" "c.2044-46A>G" "r.(=)" "p.(=)" ""
"0000247113" "00007902" "10" "255" "0" "255" "0" "c.255A>T" "r.(?)" "p.(Ala85=)" ""
"0000247150" "00007902" "10" "3434" "0" "3434" "0" "c.*1133A>C" "r.(=)" "p.(=)" ""
"0000247151" "00007902" "10" "3755" "0" "3755" "0" "c.*1454A>G" "r.(=)" "p.(=)" ""
"0000247152" "00007902" "10" "4255" "0" "4255" "0" "c.*1954A>G" "r.(=)" "p.(=)" ""
"0000247153" "00007902" "10" "6739" "0" "6739" "0" "c.*4438A>G" "r.(=)" "p.(=)" ""
"0000247177" "00007902" "50" "381" "0" "381" "0" "c.381A>G" "r.(?)" "p.(Ile127Met)" ""
"0000247186" "00007902" "50" "1192" "-2" "1192" "-2" "c.1192-2A>G" "r.spl?" "p.?" ""
"0000276692" "00007902" "10" "836" "10" "836" "10" "c.836+10G>T" "r.(=)" "p.(=)" ""
"0000276693" "00007902" "10" "993" "8" "993" "8" "c.993+8G>A" "r.(=)" "p.(=)" ""
"0000276694" "00007902" "10" "3793" "0" "3793" "0" "c.*1492T>G" "r.(=)" "p.(=)" ""
"0000276695" "00007902" "10" "6071" "0" "6071" "0" "c.*3770G>T" "r.(=)" "p.(=)" ""
"0000276697" "00007902" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Val717Met)" ""
"0000276698" "00007902" "10" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Arg435=)" ""
"0000276699" "00007902" "10" "1339" "-12" "1339" "-12" "c.1339-12C>T" "r.(=)" "p.(=)" ""
"0000276700" "00007902" "10" "1518" "0" "1518" "0" "c.1518G>A" "r.(?)" "p.(Ala506=)" ""
"0000276701" "00007902" "90" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Gly586Ter)" ""
"0000276702" "00007902" "50" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Thr79Ile)" ""
"0000276703" "00007902" "50" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Arg354Trp)" ""
"0000276704" "00007902" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Asp145=)" ""
"0000276705" "00007902" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Ser505=)" ""
"0000276706" "00007902" "10" "1543" "-21" "1543" "-21" "c.1543-21T>G" "r.(=)" "p.(=)" ""
"0000276707" "00007902" "10" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Ile520=)" ""
"0000276708" "00007902" "50" "569" "0" "569" "0" "c.569T>A" "r.(?)" "p.(Leu190Gln)" ""
"0000276709" "00007902" "10" "1636" "-7" "1636" "-7" "c.1636-7T>C" "r.(=)" "p.(=)" ""
"0000276710" "00007902" "30" "1711" "0" "1711" "0" "c.1711C>A" "r.(?)" "p.(Pro571Thr)" ""
"0000276711" "00007902" "90" "893" "0" "893" "0" "c.893T>C" "r.(?)" "p.(Met298Thr)" ""
"0000276712" "00007902" "90" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Met298Arg)" ""
"0000280774" "00007902" "10" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Arg435=)" ""
"0000280775" "00007902" "10" "1518" "0" "1518" "0" "c.1518G>A" "r.(?)" "p.(Ala506=)" ""
"0000351552" "00007902" "90" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224*)" "5"
"0000351553" "00007902" "90" "823" "0" "823" "0" "c.823C>T" "r.823c>u" "p.Arg275*" "6"
"0000351554" "00007902" "90" "893" "0" "893" "0" "c.893T>G" "r.[=, 894_993del]" "p.[Met298Arg, Met298Ilefs*9]" "7"
"0000351555" "00007902" "90" "1628" "0" "1629" "0" "c.1628_1629del" "r.(?)" "p.(Glu543Glyfs*5)" "13"
"0000351556" "00007902" "90" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Gly586*)" "14"
"0000351557" "00007902" "90" "893" "0" "893" "0" "c.893T>C" "r.893u>c" "p.Met298Thr" ""
"0000351558" "00007902" "90" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Met298Arg)" ""
"0000455017" "00007902" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" ""
"0000455018" "00007902" "70" "1085" "0" "1085" "0" "c.1085A>C" "r.(?)" "p.(Tyr362Ser)" ""
"0000547817" "00007902" "30" "-245" "-29748" "-245" "-29748" "c.-245-29748A>G" "r.(=)" "p.(=)" ""
"0000547818" "00007902" "10" "-245" "-29719" "-245" "-29719" "c.-245-29719A>G" "r.(=)" "p.(=)" ""
"0000547819" "00007902" "10" "-245" "-29719" "-245" "-29719" "c.-245-29719A>G" "r.(=)" "p.(=)" ""
"0000547820" "00007902" "50" "-36" "0" "-36" "0" "c.-36C>A" "r.(?)" "p.(=)" ""
"0000547821" "00007902" "50" "50" "0" "50" "0" "c.50C>G" "r.(?)" "p.(Pro17Arg)" ""
"0000547822" "00007902" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Asp133Asn)" ""
"0000547823" "00007902" "30" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Pro166Arg)" ""
"0000547824" "00007902" "90" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224Ter)" ""
"0000547825" "00007902" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Ser244=)" ""
"0000547826" "00007902" "10" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(Pro353=)" ""
"0000547827" "00007902" "30" "1132" "17" "1132" "17" "c.1132+17dup" "r.(=)" "p.(=)" ""
"0000547828" "00007902" "50" "1366" "0" "1366" "0" "c.1366C>A" "r.(?)" "p.(Pro456Thr)" ""
"0000547829" "00007902" "30" "1366" "0" "1366" "0" "c.1366C>A" "r.(?)" "p.(Pro456Thr)" ""
"0000547830" "00007902" "10" "1543" "-8" "1543" "-8" "c.1543-8T>C" "r.(=)" "p.(=)" ""
"0000547831" "00007902" "10" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Ala553=)" ""
"0000547832" "00007902" "10" "2043" "67" "2043" "67" "c.2043+67G>A" "r.(=)" "p.(=)" ""
"0000614095" "00007902" "50" "-245" "-29728" "-245" "-29728" "c.-245-29728T>C" "r.(=)" "p.(=)" ""
"0000614096" "00007902" "30" "-223" "0" "-223" "0" "c.-223C>T" "r.(?)" "p.(=)" ""
"0000614097" "00007902" "30" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Thr79Ile)" ""
"0000622864" "00007902" "50" "2095" "0" "2095" "0" "c.2095A>G" "r.(?)" "p.(Met699Val)" ""
"0000648535" "00007902" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Val717Met)" ""
"0000657076" "00007902" "30" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Met450Val)" ""
"0000657077" "00007902" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Val717Met)" ""
"0000664056" "00007902" "70" "1329" "0" "1329" "0" "c.1329C>A" "r.(?)" "p.(Tyr443*)" ""
"0000664120" "00007902" "70" "1329" "0" "1329" "0" "c.1329C>A" "r.(?)" "p.(Tyr443*)" ""
"0000679493" "00007902" "50" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Asp)" ""
"0000724003" "00007902" "30" "255" "0" "255" "0" "c.255A>T" "r.(?)" "p.(Ala85=)" ""
"0000724004" "00007902" "30" "1402" "0" "1402" "0" "c.1402C>A" "r.(?)" "p.(Arg468=)" ""
"0000830960" "00007902" "90" "1698" "0" "1698" "0" "c.1698G>A" "r.1698g>A" "p.Met566Ile" "14"
"0000830961" "00007902" "90" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "10"
"0000831953" "00007902" "90" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Met345Thr)" ""
"0000831954" "00007902" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0000832407" "00007902" "90" "2043" "1" "2043" "1" "c.2043+1G>A" "r.1989_2043del" "p.Cys684Thrfs*30" "16i"
"0000832408" "00007902" "90" "1512" "-2" "1512" "-2" "c.1512-2A>G" "r.spl" "p.?" ""
"0000832410" "00007902" "30" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" ""
"0000832411" "00007902" "30" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ser68Phe)" ""
"0000832412" "00007902" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" ""
"0000832413" "00007902" "90" "1086" "0" "1086" "0" "c.1086dup" "r.(?)" "p.(Leu363Serfs*7)" ""
"0000832414" "00007902" "50" "1583" "0" "1583" "0" "c.1583A>C" "r.(?)" "p.(Glu528Ala)" ""
"0000841399" "00007902" "90" "1550" "0" "1550" "0" "c.1550A>C" "r.(?)" "p.(Gln517Pro)" "13"
"0000853375" "00007902" "30" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Asp)" ""
"0000853376" "00007902" "50" "2097" "0" "2097" "0" "c.2097G>A" "r.(?)" "p.(Met699Ile)" ""
"0000862961" "00007902" "10" "-102749" "0" "-102749" "0" "c.-102749C>G" "r.(?)" "p.(=)" ""
"0000890528" "00007902" "30" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Ala553=)" ""
"0000913828" "00007902" "30" "-102744" "0" "-102744" "0" "c.-102744G>A" "r.(?)" "p.(=)" ""
"0000913829" "00007902" "10" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Phe295=)" ""
"0000925618" "00007902" "30" "1542" "7" "1542" "7" "c.1542+7C>T" "r.(=)" "p.(=)" ""
"0000930078" "00007902" "10" "1543" "-8" "1543" "-8" "c.1543-8T>C" "r.(=)" "p.(=)" ""
"0000930079" "00007902" "30" "6364" "0" "6364" "0" "c.*4063A>G" "r.(=)" "p.(=)" ""
"0000980228" "00007902" "30" "-245" "-29728" "-245" "-29728" "c.-245-29728T>C" "r.(=)" "p.(=)" ""
"0000999956" "00007902" "30" "-102692" "0" "-102692" "0" "c.-102692G>A" "r.(?)" "p.(=)" ""
"0001039193" "00007902" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Val222Ile)" ""
"0001039194" "00007902" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Val313Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 28
"{{screeningid}}" "{{variantid}}"
"0000035871" "0000062996"
"0000035872" "0000062997"
"0000035873" "0000062998"
"0000035874" "0000062999"
"0000152717" "0000351552"
"0000152718" "0000351553"
"0000152719" "0000351554"
"0000152720" "0000351555"
"0000152721" "0000351556"
"0000152722" "0000351557"
"0000152723" "0000351558"
"0000220124" "0000455017"
"0000220124" "0000455018"
"0000291846" "0000648535"
"0000301161" "0000664056"
"0000301225" "0000664120"
"0000398729" "0000830960"
"0000398730" "0000830961"
"0000399455" "0000831953"
"0000399455" "0000832407"
"0000399456" "0000831954"
"0000399456" "0000832408"
"0000399787" "0000832411"
"0000399788" "0000832410"
"0000399789" "0000832412"
"0000399790" "0000832413"
"0000399791" "0000832414"
"0000405314" "0000841399"