All variants in the FAT1 gene

Information The variants shown are described using the NM_005245.3 transcript reference sequence.

184 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.? r.(?) p.(His2123Tyr) - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.? r.(?) p.(His1190Tyr) - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.? r.(?) p.(Glu1920Ala) - VUS g.? - - - TRAPPC11_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.56G>C r.(?) p.(Gly19Ala) - likely benign g.187630926C>G - FAT1(NM_005245.4):c.56G>C (p.G19A) - FAT1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.103A>G r.(?) p.(Thr35Ala) - VUS g.187630879T>C - FAT1(NM_005245.4):c.103A>G (p.T35A) - FAT1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.385G>C r.(?) p.(Val129Leu) - benign g.187630597C>G g.186709443C>G FAT1(NM_005245.4):c.385G>C (p.V129L) - FAT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.465C>T r.(?) p.(Ser155=) - likely benign g.187630517G>A - FAT1(NM_005245.3):c.465C>T (p.S155=), FAT1(NM_005245.4):c.465C>T (p.S155=) - FAT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.465C>T r.(?) p.(Ser155=) - likely benign g.187630517G>A - FAT1(NM_005245.3):c.465C>T (p.S155=), FAT1(NM_005245.4):c.465C>T (p.S155=) - FAT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.544G>A r.(?) p.(Gly182Arg) - VUS g.187630438C>T g.186709284C>T FAT1(NM_005245.3):c.544G>A (p.G182R) - FAT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.741C>T r.(?) p.(Ile247=) - benign g.187630241G>A - FAT1(NM_005245.4):c.741C>T (p.I247=) - FAT1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.813A>G r.(?) p.(=) - likely benign g.187630169T>C - FAT1(NM_005245.4):c.813A>G (p.P271=) - FAT1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.883G>A r.(?) p.(Val295Met) - likely benign g.187630099C>T - FAT1(NM_005245.4):c.883G>A (p.(Val295Met)) - FAT1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.894C>A r.(?) p.(Asp298Glu) - VUS g.187630088G>T - - - FAT1_000152 - - - - Unknown - - - - - MobiDetails
?/. - c.1025G>C r.(?) p.(Gly342Ala) - VUS g.187629957C>G g.186708803C>G FAT1(NM_005245.3):c.1025G>C (p.G342A) - FAT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1031C>T r.(?) p.(Pro344Leu) - VUS g.187629951G>A - FAT1(NM_005245.4):c.1031C>T (p.P344L) - FAT1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1146C>A r.(?) p.(Pro382=) - likely benign g.187629836G>T g.186708682G>T FAT1(NM_005245.3):c.1146C>A (p.P382=), FAT1(NM_005245.4):c.1146C>A (p.P382=) - FAT1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1146C>A r.(?) p.(Pro382=) - likely benign g.187629836G>T - FAT1(NM_005245.3):c.1146C>A (p.P382=), FAT1(NM_005245.4):c.1146C>A (p.P382=) - FAT1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1399G>T r.(?) p.(Ala467Ser) - likely benign g.187629583C>A - FAT1(NM_005245.4):c.1399G>T (p.A467S) - FAT1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1437T>C r.(?) p.(Gly479=) - likely benign g.187629545A>G g.186708391A>G FAT1(NM_005245.3):c.1437T>C (p.G479=) - FAT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1616G>A r.(?) p.(Arg539His) - VUS g.187629366C>T - FAT1(NM_005245.3):c.1616G>A (p.R539H) - FAT1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1637C>T r.(?) p.(Pro546Leu) - VUS g.187629345G>A - FAT1(NM_005245.3):c.1637C>T (p.P546L) - FAT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1721G>A r.(?) p.(Cys574Tyr) - VUS g.187629261C>T - FAT1(NM_005245.3):c.1721G>A (p.C574Y) - FAT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1770T>C r.(?) p.(Thr590=) - likely benign g.187629212A>G - FAT1(NM_005245.3):c.1770T>C (p.T590=) - FAT1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1940C>T r.(?) p.(Ala647Val) - VUS g.187629042G>A - FAT1(NM_005245.3):c.1940C>T (p.A647V), FAT1(NM_005245.4):c.1940C>T (p.(Ala647Val)) - FAT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1940C>T r.(?) p.(Ala647Val) - VUS g.187629042G>A - FAT1(NM_005245.3):c.1940C>T (p.A647V), FAT1(NM_005245.4):c.1940C>T (p.(Ala647Val)) - FAT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2035G>A r.(?) p.(Val679Ile) - likely benign g.187628947C>T - FAT1(NM_005245.4):c.2035G>A (p.V679I) - FAT1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2074_2077del r.(?) p.(Lys692TyrfsTer34) - VUS g.187628909_187628912del g.186707755_186707758del FAT1(NM_005245.3):c.2074_2077delAAAT (p.K692Yfs*34) - FAT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2137A>C r.(?) p.(Ile713Leu) - likely benign g.187628845T>G - FAT1(NM_005245.4):c.2137A>C (p.I713L) - FAT1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2163G>A r.(?) p.(Pro721=) - benign g.187628819C>T - FAT1(NM_005245.4):c.2163G>A (p.P721=) - FAT1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2261A>G r.(?) p.(Tyr754Cys) - VUS g.187628721T>C g.186707567T>C FAT1(NM_005245.3):c.2261A>G (p.Y754C) - FAT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2405A>T r.(?) p.(Lys802Met) - VUS g.187628577T>A g.186707423T>A FAT1(NM_005245.3):c.2405A>T (p.K802M) - FAT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2563G>A r.(?) p.(Gly855Arg) - likely benign g.187628419C>T - FAT1(NM_005245.4):c.2563G>A (p.G855R) - FAT1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2641C>T r.(?) p.(Arg881Cys) - likely benign g.187628341G>A - FAT1(NM_005245.3):c.2641C>T (p.R881C), FAT1(NM_005245.4):c.2641C>T (p.R881C) - FAT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2641C>T r.(?) p.(Arg881Cys) - likely benign g.187628341G>A - FAT1(NM_005245.3):c.2641C>T (p.R881C), FAT1(NM_005245.4):c.2641C>T (p.R881C) - FAT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2681A>G r.(?) p.(Lys894Arg) - VUS g.187628301T>C g.186707147T>C FAT1(NM_005245.3):c.2681A>G (p.K894R) - FAT1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2694G>C r.(?) p.(Arg898Ser) - VUS g.187628288C>G - - - FAT1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2734G>A r.(?) p.(Val912Ile) - likely benign g.187628248C>T - FAT1(NM_005245.3):c.2734G>A (p.V912I), FAT1(NM_005245.4):c.2734G>A (p.V912I) - FAT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2734G>A r.(?) p.(Val912Ile) - likely benign g.187628248C>T - FAT1(NM_005245.3):c.2734G>A (p.V912I), FAT1(NM_005245.4):c.2734G>A (p.V912I) - FAT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2798G>A r.(?) p.(Arg933His) - likely benign g.187628184C>T - FAT1(NM_005245.4):c.2798G>A (p.R933H) - FAT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2955C>T r.(?) p.(Ile985=) - benign g.187628027G>A - FAT1(NM_005245.4):c.2955C>T (p.I985=) - FAT1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3024G>A r.(?) p.(Lys1008=) - likely benign g.187627958C>T - FAT1(NM_005245.4):c.3024G>A (p.K1008=) - FAT1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3143C>T r.(?) p.(Pro1048Leu) - VUS g.187627839G>A g.186706685G>A - - FAT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3164C>T r.(?) p.(Thr1055Met) - likely benign g.187627818G>A g.186706664G>A FAT1(NM_005245.3):c.3164C>T (p.T1055M), FAT1(NM_005245.4):c.3164C>T (p.T1055M) - FAT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3164C>T r.(?) p.(Thr1055Met) - likely benign g.187627818G>A - FAT1(NM_005245.3):c.3164C>T (p.T1055M), FAT1(NM_005245.4):c.3164C>T (p.T1055M) - FAT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3278C>T r.(?) p.(Thr1093Met) - VUS g.187584755G>A - FAT1(NM_005245.3):c.3278C>T (p.(Thr1093Met)) - FAT1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3349G>A r.(?) p.(Val1117Met) - likely benign g.187584684C>T - FAT1(NM_005245.4):c.3349G>A (p.V1117M) - FAT1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3373A>C r.(?) p.(Ile1125Leu) - likely benign g.187584660T>G - FAT1(NM_005245.4):c.3373A>C (p.I1125L) - FAT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3503C>T r.(?) p.(Ser1168Leu) - VUS g.187584530G>A g.186663376G>A - - FAT1_000045 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.3503C>T r.(?) p.(Ser1168Leu) - VUS g.187584530G>A - FAT1(NM_005245.3):c.3503C>T (p.S1168L) - FAT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3597G>A r.(?) p.(Thr1199=) - likely benign g.187560921C>T - FAT1(NM_005245.4):c.3597G>A (p.T1199=) - FAT1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3725A>G r.(?) p.(Lys1242Arg) - likely benign g.187557986T>C - FAT1(NM_005245.4):c.3725A>G (p.K1242R) - FAT1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3749A>G r.(?) p.(Tyr1250Cys) - VUS g.187557962T>C - FAT1(NM_005245.3):c.3749A>G (p.Y1250C, p.(Tyr1250Cys)), FAT1(NM_005245.4):c.3749A>G (p.Y1250C) - FAT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3749A>G r.(?) p.(Tyr1250Cys) - likely benign g.187557962T>C - FAT1(NM_005245.3):c.3749A>G (p.Y1250C, p.(Tyr1250Cys)), FAT1(NM_005245.4):c.3749A>G (p.Y1250C) - FAT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3749A>G r.(?) p.(Tyr1250Cys) - likely benign g.187557962T>C - FAT1(NM_005245.3):c.3749A>G (p.Y1250C, p.(Tyr1250Cys)), FAT1(NM_005245.4):c.3749A>G (p.Y1250C) - FAT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3803G>A r.(?) p.(Arg1268Gln) - VUS g.187557908C>T g.186636754C>T FAT1(NM_005245.3):c.3803G>A (p.R1268Q) - FAT1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3874G>A r.(?) p.(Glu1292Lys) - likely benign g.187557837C>T - FAT1(NM_005245.4):c.3874G>A (p.E1292K) - FAT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3929C>T r.(?) p.(Ser1310Leu) - likely benign g.187557782G>A - FAT1(NM_005245.3):c.3929C>T (p.S1310L), FAT1(NM_005245.4):c.3929C>T (p.(Ser1310Leu), p.S1310L) - FAT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3929C>T r.(?) p.(Ser1310Leu) - likely benign g.187557782G>A - FAT1(NM_005245.3):c.3929C>T (p.S1310L), FAT1(NM_005245.4):c.3929C>T (p.(Ser1310Leu), p.S1310L) - FAT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3929C>T r.(?) p.(Ser1310Leu) - likely benign g.187557782G>A - FAT1(NM_005245.3):c.3929C>T (p.S1310L), FAT1(NM_005245.4):c.3929C>T (p.(Ser1310Leu), p.S1310L) - FAT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3934A>G r.(?) p.(Lys1312Glu) - VUS g.187557777T>C g.186636623T>C FAT1(NM_005245.3):c.3934A>G (p.K1312E) - FAT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4432A>G r.(?) p.(Ile1478Val) - likely benign g.187549809T>C - FAT1(NM_005245.3):c.4432A>G (p.(Ile1478Val)) - FAT1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.4516C>T r.(?) p.(Arg1506Cys) - likely pathogenic g.187549725G>A g.186628571G>A NM_005245.3(FAT1):c.4516C>T p.(Arg1506Cys) - FAT1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.4516C>T r.(?) p.(Arg1506Cys) - VUS g.187549725G>A g.186628571G>A FAT1(NM_005245.3):c.4516C>T (p.R1506C), FAT1(NM_005245.4):c.4516C>T (p.R1506C) - FAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4516C>T r.(?) p.(Arg1506Cys) - VUS g.187549725G>A - FAT1(NM_005245.3):c.4516C>T (p.R1506C), FAT1(NM_005245.4):c.4516C>T (p.R1506C) - FAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4599+6C>T r.(=) p.(=) - likely benign g.187549636G>A - FAT1(NM_005245.3):c.4599+6C>T, FAT1(NM_005245.4):c.4599+6C>T - FAT1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4599+6C>T r.(=) p.(=) - likely benign g.187549636G>A - FAT1(NM_005245.3):c.4599+6C>T, FAT1(NM_005245.4):c.4599+6C>T - FAT1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4599+6C>T r.(=) p.(=) - likely benign g.187549636G>A - FAT1(NM_005245.3):c.4599+6C>T, FAT1(NM_005245.4):c.4599+6C>T - FAT1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4645G>A r.(?) p.(Val1549Met) - likely benign g.187549473C>T g.186628319C>T FAT1(NM_005245.4):c.4645G>A (p.V1549M) - FAT1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4754C>T r.(?) p.(Thr1585Met) - VUS g.187549364G>A g.186628210G>A FAT1(NM_005245.3):c.4754C>T (p.T1585M) - FAT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4841C>T r.(?) p.(Pro1614Leu) - likely benign g.187542899G>A g.186621745G>A FAT1(NM_005245.3):c.4841C>T (p.P1614L, p.(Pro1614Leu)), FAT1(NM_005245.4):c.4841C>T (p.P1614L) - FAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4841C>T r.(?) p.(Pro1614Leu) - VUS g.187542899G>A g.186621745G>A FAT1(NM_005245.3):c.4841C>T (p.P1614L, p.(Pro1614Leu)), FAT1(NM_005245.4):c.4841C>T (p.P1614L) - FAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4841C>T r.(?) p.(Pro1614Leu) - benign g.187542899G>A g.186621745G>A FAT1(NM_005245.3):c.4841C>T (p.P1614L, p.(Pro1614Leu)), FAT1(NM_005245.4):c.4841C>T (p.P1614L) - FAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4960C>T r.(?) p.(Arg1654Cys) - VUS g.187542780G>A - FAT1(NM_005245.4):c.4960C>T (p.R1654C) - FAT1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5173C>T r.(?) p.(Leu1725=) - likely benign g.187542567G>A - FAT1(NM_005245.3):c.5173C>T (p.L1725=) - FAT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5309A>G r.(?) p.(Tyr1770Cys) - VUS g.187542431T>C - FAT1(NM_005245.4):c.5309A>G (p.Y1770C) - FAT1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5313A>G r.(?) p.(=) - likely benign g.187542427T>C - FAT1(NM_005245.4):c.5313A>G (p.T1771=) - FAT1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5320A>G r.(?) p.(Ile1774Val) - likely benign g.187542420T>C - FAT1(NM_005245.4):c.5320A>G (p.(Ile1774Val)) - FAT1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5384G>A r.(?) p.(Arg1795Gln) - likely benign g.187542356C>T g.186621202C>T FAT1(NM_005245.3):c.5384G>A (p.R1795Q), FAT1(NM_005245.4):c.5384G>A (p.R1795Q) - FAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5384G>A r.(?) p.(Arg1795Gln) - benign g.187542356C>T - FAT1(NM_005245.3):c.5384G>A (p.R1795Q), FAT1(NM_005245.4):c.5384G>A (p.R1795Q) - FAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5481T>G r.(?) p.(Gly1827=) - likely benign g.187542259A>C g.186621105A>C FAT1(NM_005245.3):c.5481T>G (p.G1827=) - FAT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5510A>G r.(?) p.(Tyr1837Cys) - VUS g.187542230T>C g.186621076T>C FAT1(NM_005245.3):c.5510A>G (p.Y1837C) - FAT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6001A>G r.(?) p.(Ile2001Val) - likely benign g.187541739T>C - FAT1(NM_005245.3):c.6001A>G (p.I2001V) - FAT1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6010A>G r.(?) p.(Ile2004Val) - likely benign g.187541730T>C g.186620576T>C FAT1(NM_005245.3):c.6010A>G (p.(Ile2004Val)) - FAT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.6012T>G r.(?) p.(Ile2004Met) - VUS g.187541728A>C g.186620574A>C FAT1(NM_005245.3):c.6012T>G (p.I2004M), FAT1(NM_005245.4):c.6012T>G (p.I2004M) - FAT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6012T>G r.(?) p.(Ile2004Met) - likely benign g.187541728A>C - FAT1(NM_005245.3):c.6012T>G (p.I2004M), FAT1(NM_005245.4):c.6012T>G (p.I2004M) - FAT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.6054C>A r.(?) p.(Asn2018Lys) - benign g.187541686G>T - FAT1(NM_005245.4):c.6054C>A (p.N2018K) - FAT1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.6110C>T r.(?) p.(Thr2037Met) - VUS g.187541630G>A g.186620476G>A FAT1(NM_005245.3):c.6110C>T (p.T2037M) - FAT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6265G>A r.(?) p.(Val2089Ile) - likely benign g.187541475C>T - FAT1(NM_005245.4):c.6265G>A (p.V2089I) - FAT1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.6361A>G r.(?) p.(Lys2121Glu) - likely benign g.187541379T>C g.186620225T>C FAT1(NM_005245.3):c.6361A>G (p.K2121E), FAT1(NM_005245.4):c.6361A>G (p.K2121E) - FAT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6361A>G r.(?) p.(Lys2121Glu) - likely benign g.187541379T>C - FAT1(NM_005245.3):c.6361A>G (p.K2121E), FAT1(NM_005245.4):c.6361A>G (p.K2121E) - FAT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.6389G>A r.(?) p.(Gly2130Glu) - VUS g.187541351C>T g.186620197C>T FAT1(NM_005245.3):c.6389G>A (p.G2130E) - FAT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7050C>T r.(?) p.(Tyr2350=) - likely benign g.187540690G>A - FAT1(NM_005245.3):c.7050C>T (p.Y2350=) - FAT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7130C>T r.(?) p.(Thr2377Met) - likely benign g.187540610G>A - FAT1(NM_005245.4):c.7130C>T (p.T2377M) - FAT1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.7137C>T r.(?) p.(Asp2379=) - likely benign g.187540603G>A g.186619449G>A FAT1(NM_005245.3):c.7137C>T (p.D2379=) - FAT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7170T>C r.(?) p.(=) - likely benign g.187540570A>G - FAT1(NM_005245.4):c.7170T>C (p.F2390=) - FAT1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.7259C>G r.(?) p.(Ser2420Ter) - VUS g.187540481G>C - - - FAT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.7359C>T r.(?) p.(=) - likely benign g.187540381G>A - FAT1(NM_005245.4):c.7359C>T (p.H2453=) - FAT1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.7360C>T r.(?) p.(Arg2454Trp) - VUS g.187540380G>A g.186619226G>A FAT1(NM_005245.3):c.7360C>T (p.R2454W), FAT1(NM_005245.4):c.7360C>T (p.R2454W) - FAT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7360C>T r.(?) p.(Arg2454Trp) - VUS g.187540380G>A - FAT1(NM_005245.3):c.7360C>T (p.R2454W), FAT1(NM_005245.4):c.7360C>T (p.R2454W) - FAT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.7580_7593dup r.(?) p.(Val2532Leufs*6) - pathogenic g.187540147_187540160dup - FAT1(NM_005245.4):c.7580_7593dupTTACTTACCATATT (p.V2532Lfs*6) - FAT1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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