Full data view for gene FAT4

Information The variants shown are described using the NM_024582.4 transcript reference sequence.

471 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.? r.(?) p.(Ala2178Val) Unknown - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K106 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Glu3862Gln) Unknown - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K126 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Arg1804Gly) Unknown - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K149 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Glu4734Gly) Unknown - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K195 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - 2 Johan den Dunnen
?/. - c.65C>G r.(?) p.(Ser22Cys) Unknown - VUS g.126237631C>G g.125316476C>G FAT4(NM_001291303.3):c.65C>G (p.(Ser22Cys)) - FAT4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - likely benign g.126237670C>T g.125316515C>T FAT4(NM_001291303.1):c.104C>T (p.P35L), FAT4(NM_024582.5):c.104C>T (p.P35L) - FAT4_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - VUS g.126237670C>T - FAT4(NM_001291303.1):c.104C>T (p.P35L), FAT4(NM_024582.5):c.104C>T (p.P35L) - FAT4_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155T>C r.(?) p.(Leu52Pro) Unknown - VUS g.126237721T>C g.125316566T>C FAT4(NM_024582.4):c.155T>C (p.L52P) - FAT4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185G>C r.(?) p.(Gly62Ala) Unknown - VUS g.126237751G>C g.125316596G>C FAT4(NM_001291303.3):c.185G>C (p.G62A), FAT4(NM_024582.4):c.185G>C (p.(Gly62Ala)), FAT4(NM_024582.5):c.185G>C (p.G62A) - FAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>C r.(?) p.(Gly62Ala) Unknown - likely benign g.126237751G>C - FAT4(NM_001291303.3):c.185G>C (p.G62A), FAT4(NM_024582.4):c.185G>C (p.(Gly62Ala)), FAT4(NM_024582.5):c.185G>C (p.G62A) - FAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>C r.(?) p.(Gly62Ala) Unknown - likely benign g.126237751G>C - FAT4(NM_001291303.3):c.185G>C (p.G62A), FAT4(NM_024582.4):c.185G>C (p.(Gly62Ala)), FAT4(NM_024582.5):c.185G>C (p.G62A) - FAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211A>G r.(?) p.(Thr71Ala) Unknown - VUS g.126237777A>G - - - FAT4_000262 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.283A>T r.(?) p.(Thr95Ser) Unknown - likely benign g.126237849A>T g.125316694A>T FAT4(NM_001291303.1):c.283A>T (p.T95S) - FAT4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>A r.(?) p.(Ile96=) Unknown - likely benign g.126237854C>A - FAT4(NM_001291303.1):c.288C>A (p.I96=) - FAT4_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298A>G r.(?) p.(Ser100Gly) Unknown - likely benign g.126237864A>G g.125316709A>G FAT4(NM_024582.4):c.298A>G (p.(Ser100Gly)) - FAT4_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386A>G r.(?) p.(Asn129Ser) Unknown - VUS g.126237952A>G g.125316797A>G FAT4(NM_001291303.1):c.386A>G (p.N129S) - FAT4_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Phe135=) Unknown - benign g.126237971C>T g.125316816C>T FAT4(NM_001291303.3):c.405C>T (p.F135=), FAT4(NM_024582.4):c.405C>T (p.F135=) - FAT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Phe135=) Unknown - benign g.126237971C>T g.125316816C>T FAT4(NM_001291303.3):c.405C>T (p.F135=), FAT4(NM_024582.4):c.405C>T (p.F135=) - FAT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418A>G r.(?) p.(Ile140Val) Unknown - VUS g.126237984A>G - FAT4(NM_024582.4):c.418A>G (p.(Ile140Val)) - FAT4_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502G>C r.(?) p.(Gly168Arg) Unknown - VUS g.126238068G>C - - - FAT4_000254 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.523C>A r.(?) p.(Arg175Ser) Unknown - VUS g.126238089C>A - FAT4(NM_001291303.1):c.523C>A (p.R175S) - FAT4_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524G>T r.(?) p.(Arg175Leu) Unknown - VUS g.126238090G>T g.125316935G>T FAT4(NM_001291303.1):c.524G>T (p.R175L), FAT4(NM_024582.4):c.524G>T (p.R175L), FAT4(NM_024582.5):c.524G>T (p.R175L), FAT4(NM_024582.6):c.524G>T (p...) - FAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.524G>T r.(?) p.(Arg175Leu) Unknown - likely benign g.126238090G>T g.125316935G>T FAT4(NM_001291303.1):c.524G>T (p.R175L), FAT4(NM_024582.4):c.524G>T (p.R175L), FAT4(NM_024582.5):c.524G>T (p.R175L), FAT4(NM_024582.6):c.524G>T (p...) - FAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.524G>T r.(?) p.(Arg175Leu) Parent #1 - likely benign g.126238090G>T g.125316935G>T - - FAT4_000009 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143534324 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.524G>T r.(?) p.(Arg175Leu) Unknown - VUS g.126238090G>T - FAT4(NM_001291303.1):c.524G>T (p.R175L), FAT4(NM_024582.4):c.524G>T (p.R175L), FAT4(NM_024582.5):c.524G>T (p.R175L), FAT4(NM_024582.6):c.524G>T (p...) - FAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524G>T r.(?) p.(Arg175Leu) Unknown - VUS g.126238090G>T - FAT4(NM_001291303.1):c.524G>T (p.R175L), FAT4(NM_024582.4):c.524G>T (p.R175L), FAT4(NM_024582.5):c.524G>T (p.R175L), FAT4(NM_024582.6):c.524G>T (p...) - FAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544G>T r.(?) p.(Ala182Ser) Unknown - likely benign g.126238110G>T g.125316955G>T FAT4(NM_024582.4):c.544G>T (p.(Ala182Ser)) - FAT4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>A r.(?) p.(Ala182=) Unknown - likely benign g.126238112G>A - FAT4(NM_001291303.1):c.546G>A (p.A182=) - FAT4_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739C>A r.(?) p.(Pro247Thr) Unknown - likely benign g.126238305C>A g.125317150C>A FAT4(NM_001291303.1):c.739C>A (p.P247T), FAT4(NM_001291303.3):c.739C>A (p.P247T), FAT4(NM_024582.4):c.739C>A (p.P247T, p.(Pro247Thr)), FAT4(NM_024...) - FAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739C>A r.(?) p.(Pro247Thr) Unknown - likely benign g.126238305C>A g.125317150C>A FAT4(NM_001291303.1):c.739C>A (p.P247T), FAT4(NM_001291303.3):c.739C>A (p.P247T), FAT4(NM_024582.4):c.739C>A (p.P247T, p.(Pro247Thr)), FAT4(NM_024...) - FAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.739C>A r.(?) p.(Pro247Thr) Unknown - benign g.126238305C>A g.125317150C>A FAT4(NM_001291303.1):c.739C>A (p.P247T), FAT4(NM_001291303.3):c.739C>A (p.P247T), FAT4(NM_024582.4):c.739C>A (p.P247T, p.(Pro247Thr)), FAT4(NM_024...) - FAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.739C>A r.(?) p.(Pro247Thr) Parent #1 - benign g.126238305C>A g.125317150C>A - - FAT4_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191329848 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.739C>A r.(?) p.(Pro247Thr) Unknown - VUS g.126238305C>A - FAT4(NM_001291303.1):c.739C>A (p.P247T), FAT4(NM_001291303.3):c.739C>A (p.P247T), FAT4(NM_024582.4):c.739C>A (p.P247T, p.(Pro247Thr)), FAT4(NM_024...) - FAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.739C>A r.(?) p.(Pro247Thr) Unknown - benign g.126238305C>A - FAT4(NM_001291303.1):c.739C>A (p.P247T), FAT4(NM_001291303.3):c.739C>A (p.P247T), FAT4(NM_024582.4):c.739C>A (p.P247T, p.(Pro247Thr)), FAT4(NM_024...) - FAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.739C>T r.(?) p.(Pro247Ser) Unknown - likely pathogenic g.126238305C>T g.125317150C>T NM_001291303.1(FAT4):c.739C>T p.(Pro247Ser) - FAT4_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-531A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.739C>T r.(?) p.(Pro247Ser) Unknown - likely benign g.126238305C>T - FAT4(NM_024582.5):c.739C>T (p.P247S) - FAT4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>A r.(?) p.(Pro260Thr) Unknown - VUS g.126238344C>A g.125317189C>A FAT4(NM_024582.4):c.778C>A (p.P260T) - FAT4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Ala274Val) Unknown - VUS g.126238387C>T g.125317232C>T FAT4(NM_001291303.1):c.821C>T (p.A274V) - FAT4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>A r.(?) p.(Ala277Thr) Unknown - likely benign g.126238395G>A g.125317240G>A FAT4(NM_001291303.1):c.829G>A (p.A277T), FAT4(NM_001291303.3):c.829G>A (p.A277T) - FAT4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Ala277Thr) Unknown - VUS g.126238395G>A g.125317240G>A FAT4(NM_001291303.1):c.829G>A (p.A277T), FAT4(NM_001291303.3):c.829G>A (p.A277T) - FAT4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831G>A r.(?) p.(Ala277=) Unknown - likely benign g.126238397G>A g.125317242G>A FAT4(NM_024582.4):c.831G>A (p.A277=) - FAT4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842C>T r.(?) p.(Thr281Ile) Unknown - VUS g.126238408C>T g.125317253C>T FAT4(NM_024582.4):c.842C>T (p.T281I) - FAT4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900T>A r.(?) p.(Pro300=) Unknown - likely benign g.126238466T>A g.125317311T>A FAT4(NM_001291303.1):c.900T>A (p.P300=) - FAT4_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1101A>G r.(?) p.(Val367=) Unknown - benign g.126238667A>G g.125317512A>G FAT4(NM_001291303.3):c.1101A>G (p.V367=), FAT4(NM_024582.4):c.1101A>G (p.V367=), FAT4(NM_024582.5):c.1101A>G (p.V367=) - FAT4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1101A>G r.(?) p.(Val367=) Unknown - benign g.126238667A>G g.125317512A>G FAT4(NM_001291303.3):c.1101A>G (p.V367=), FAT4(NM_024582.4):c.1101A>G (p.V367=), FAT4(NM_024582.5):c.1101A>G (p.V367=) - FAT4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101A>G r.(?) p.(Val367=) Unknown - likely benign g.126238667A>G - FAT4(NM_001291303.3):c.1101A>G (p.V367=), FAT4(NM_024582.4):c.1101A>G (p.V367=), FAT4(NM_024582.5):c.1101A>G (p.V367=) - FAT4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128G>A r.(?) p.(Val376=) Unknown - benign g.126238694G>A g.125317539G>A FAT4(NM_001291303.1):c.1128G>A (p.V376=), FAT4(NM_001291303.3):c.1128G>A (p.V376=) - FAT4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Val376=) Unknown - likely benign g.126238694G>A g.125317539G>A FAT4(NM_001291303.1):c.1128G>A (p.V376=), FAT4(NM_001291303.3):c.1128G>A (p.V376=) - FAT4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244C>G r.(?) p.(Pro415Arg) Unknown - VUS g.126238810C>G - - - FAT4_000255 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1244C>G r.(?) p.(Pro415Arg) Unknown - VUS g.126238810C>G - - - FAT4_000255 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1263G>C r.(?) p.(Lys421Asn) Unknown - VUS g.126238829G>C g.125317674G>C FAT4(NM_001291303.1):c.1263G>C (p.K421N) - FAT4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295dup r.(?) p.(Ser433PhefsTer10) Unknown - VUS g.126238861dup g.125317706dup FAT4(NM_024582.4):c.1292_1293insC (p.(Ser433PhefsTer10)) - FAT4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>G r.(?) p.(Ser433=) Unknown - likely benign g.126238865C>G g.125317710C>G FAT4(NM_001291303.1):c.1299C>G (p.S433=), FAT4(NM_001291303.3):c.1299C>G (p.(Ser433=)), FAT4(NM_024582.5):c.1299C>G (p.S433=) - FAT4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>G r.(?) p.(Ser433=) Unknown - likely benign g.126238865C>G - FAT4(NM_001291303.1):c.1299C>G (p.S433=), FAT4(NM_001291303.3):c.1299C>G (p.(Ser433=)), FAT4(NM_024582.5):c.1299C>G (p.S433=) - FAT4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>G r.(?) p.(Ser433=) Unknown - likely benign g.126238865C>G - FAT4(NM_001291303.1):c.1299C>G (p.S433=), FAT4(NM_001291303.3):c.1299C>G (p.(Ser433=)), FAT4(NM_024582.5):c.1299C>G (p.S433=) - FAT4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1358A>T r.(?) p.(Gln453Leu) Unknown - benign g.126238924A>T g.125317769A>T FAT4(NM_001291303.3):c.1358A>T (p.Q453L), FAT4(NM_024582.4):c.1358A>T (p.Q453L) - FAT4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1358A>T r.(?) p.(Gln453Leu) Unknown - benign g.126238924A>T g.125317769A>T FAT4(NM_001291303.3):c.1358A>T (p.Q453L), FAT4(NM_024582.4):c.1358A>T (p.Q453L) - FAT4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381C>G r.(?) p.(Leu461Val) Unknown - VUS g.126238947C>G g.125317792C>G FAT4(NM_001291303.1):c.1381C>G (p.L461V) - FAT4_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432C>G r.(?) p.(Gln478Glu) Unknown - likely benign g.126238998C>G - FAT4(NM_001291303.3):c.1432C>G (p.(Gln478Glu)) - FAT4_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449C>T r.(?) p.(Asn483=) Unknown - likely benign g.126239015C>T g.125317860C>T FAT4(NM_001291303.3):c.1449C>T (p.N483=) - FAT4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495G>A r.(?) p.(Ala499Thr) Unknown - VUS g.126239061G>A g.125317906G>A FAT4(NM_001291303.1):c.1495G>A (p.A499T) - FAT4_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1526A>G r.(?) p.(Asn509Ser) Unknown - VUS g.126239092A>G g.125317937A>G FAT4(NM_001291303.1):c.1526A>G (p.N509S) - FAT4_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1608C>T r.(?) p.(Ser536=) Unknown - likely benign g.126239174C>T g.125318019C>T FAT4(NM_001291303.3):c.1608C>T (p.S536=) - FAT4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1660G>A r.(?) p.(Ala554Thr) Unknown - VUS g.126239226G>A - - - FAT4_000256 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1807T>A r.(?) p.(Leu603Met) Unknown - VUS g.126239373T>A g.125318218T>A FAT4(NM_024582.4):c.1807T>A (p.L603M) - FAT4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2039T>C r.(?) p.(Leu680Pro) Unknown - VUS g.126239605T>C - FAT4(NM_001291303.1):c.2039T>C (p.L680P) - FAT4_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2057G>A r.(?) p.(Ser686Asn) Unknown - VUS g.126239623G>A g.125318468G>A FAT4(NM_024582.4):c.2057G>A (p.(Ser686Asn)) - FAT4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2061T>C r.(?) p.(Pro687=) Unknown - likely benign g.126239627T>C g.125318472T>C FAT4(NM_024582.4):c.2061T>C (p.P687=) - FAT4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2121C>T r.(?) p.(Tyr707=) Unknown - likely benign g.126239687C>T g.125318532C>T FAT4(NM_001291303.1):c.2121C>T (p.Y707=) - FAT4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2165G>A r.(?) p.(Gly722Asp) Unknown - VUS g.126239731G>A - NM_024582:c.G2165A (G722D) - FAT4_000307 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0046 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.2220T>C r.(?) p.(Ala740=) Unknown - likely benign g.126239786T>C - FAT4(NM_001291303.1):c.2220T>C (p.A740=) - FAT4_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2273C>T r.(?) p.(Ala758Val) Unknown - likely benign g.126239839C>T - FAT4(NM_024582.5):c.2273C>T (p.A758V) - FAT4_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2283G>T r.(?) p.(Leu761Phe) Unknown - VUS g.126239849G>T g.125318694G>T FAT4(NM_001291303.1):c.2283G>T (p.L761F), FAT4(NM_001291303.3):c.2283G>T (p.(Leu761Phe)) - FAT4_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2283G>T r.(?) p.(Leu761Phe) Unknown - VUS g.126239849G>T - FAT4(NM_001291303.1):c.2283G>T (p.L761F), FAT4(NM_001291303.3):c.2283G>T (p.(Leu761Phe)) - FAT4_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2289A>G r.(?) p.(Ile763Met) Unknown - likely benign g.126239855A>G g.125318700A>G FAT4(NM_024582.5):c.2289A>G (p.I763M) - FAT4_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2316A>G r.(?) p.(Gln772=) Unknown - likely benign g.126239882A>G g.125318727A>G FAT4(NM_001291303.1):c.2316A>G (p.Q772=) - FAT4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322C>T r.(?) p.(Pro774=) Unknown - likely benign g.126239888C>T g.125318733C>T FAT4(NM_024582.4):c.2322C>T (p.P774=) - FAT4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2420C>T r.(?) p.(Ala807Val) Unknown - benign g.126239986C>T g.125318831C>T FAT4(NM_001291303.3):c.2420C>T (p.A807V), FAT4(NM_024582.4):c.2420C>T (p.A807V) - FAT4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2420C>T r.(?) p.(Ala807Val) Unknown - benign g.126239986C>T g.125318831C>T FAT4(NM_001291303.3):c.2420C>T (p.A807V), FAT4(NM_024582.4):c.2420C>T (p.A807V) - FAT4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2421G>A r.(?) p.(Ala807=) Unknown - likely benign g.126239987G>A g.125318832G>A FAT4(NM_024582.4):c.2421G>A (p.A807=) - FAT4_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2479A>T r.(?) p.(Ser827Cys) Unknown - VUS g.126240045A>T - - - FAT4_000263 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2480G>T r.(?) p.(Ser827Ile) Unknown - VUS g.126240046G>T - - - FAT4_000264 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+?/. - c.2575C>T r.(?) p.(Gln859Ter) Unknown - likely pathogenic g.126240141C>T g.125318986C>T FAT4(NM_001291303.3):c.2575C>T (p.Q859*) - FAT4_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2641A>G r.(?) p.(Ile881Val) Unknown - VUS g.126240207A>G - FAT4(NM_001291303.1):c.2641A>G (p.I881V) - FAT4_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2642T>C r.(?) p.(Ile881Thr) Unknown - VUS g.126240208T>C g.125319053T>C FAT4(NM_001291303.3):c.2642T>C (p.I881T) - FAT4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2689A>G r.(?) p.(Ile897Val) Unknown - VUS g.126240255A>G g.125319100A>G FAT4(NM_024582.4):c.2689A>G (p.(Ile897Val)) - FAT4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2708_2710del r.(?) p.(Val903del) Unknown - likely benign g.126240274_126240276del g.125319119_125319121del FAT4(NM_001291303.1):c.2708_2710delTGG (p.V903del), FAT4(NM_001291303.3):c.2708_2710del (p.(Val903del)) - FAT4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2708_2710del r.(?) p.(Val903del) Unknown - VUS g.126240274_126240276del - FAT4(NM_001291303.1):c.2708_2710delTGG (p.V903del), FAT4(NM_001291303.3):c.2708_2710del (p.(Val903del)) - FAT4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2824A>G r.(?) p.(Ile942Val) Unknown - VUS g.126240390A>G g.125319235A>G FAT4(NM_024582.4):c.2824A>G (p.(Ile942Val)) - FAT4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2842A>G r.(?) p.(Thr948Ala) Maternal (confirmed) - pathogenic g.126240408A>G g.125319253A>G - - FAT4_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.2858G>T r.(?) p.(Gly953Val) Unknown - VUS g.126240424G>T g.125319269G>T FAT4(NM_024582.6):c.2858G>T (p.G953V) - FAT4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2858G>T r.(?) p.(Gly953Val) Unknown - VUS g.126240424G>T - FAT4(NM_024582.6):c.2858G>T (p.G953V) - FAT4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2898C>A r.(?) p.(Ile966=) Unknown - likely benign g.126240464C>A g.125319309C>A FAT4(NM_001291303.1):c.2898C>A (p.I966=) - FAT4_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2919C>T r.(?) p.(Val973=) Unknown - likely benign g.126240485C>T g.125319330C>T FAT4(NM_024582.4):c.2919C>T (p.V973=), FAT4(NM_024582.5):c.2919C>T (p.V973=) - FAT4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2919C>T r.(?) p.(Val973=) Unknown - likely benign g.126240485C>T - FAT4(NM_024582.4):c.2919C>T (p.V973=), FAT4(NM_024582.5):c.2919C>T (p.V973=) - FAT4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2944T>C r.(?) p.(Leu982=) Unknown - benign g.126240510T>C g.125319355T>C FAT4(NM_001291303.3):c.2944T>C (p.L982=), FAT4(NM_024582.4):c.2944T>C (p.L982=) - FAT4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2944T>C r.(?) p.(Leu982=) Unknown - benign g.126240510T>C g.125319355T>C FAT4(NM_001291303.3):c.2944T>C (p.L982=), FAT4(NM_024582.4):c.2944T>C (p.L982=) - FAT4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2948C>G r.(?) p.(Thr983Arg) Unknown - VUS g.126240514C>G g.125319359C>G FAT4(NM_001291303.1):c.2948C>G (p.T983R) - FAT4_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3012C>A r.(?) p.(Thr1004=) Unknown - likely benign g.126240578C>A - FAT4(NM_001291303.1):c.3012C>A (p.T1004=) - FAT4_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3096A>G r.(?) p.(Ala1032=) Unknown - benign g.126240662A>G g.125319507A>G FAT4(NM_001291303.3):c.3096A>G (p.A1032=) - FAT4_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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