Full data view for gene FAT2

Information The variants shown are described using the NM_001447.2 transcript reference sequence.

125 entries on 2 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.165C>T r.(?) p.(Phe55=) Unknown - likely benign g.150948328G>A - FAT2(NM_001447.2):c.165C>T (p.F55=) - FAT2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Ala63Val) Unknown - likely benign g.150948305G>A - FAT2(NM_001447.2):c.188C>T (p.A63V) - FAT2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397C>T r.(?) p.(Arg133Cys) Unknown - VUS g.150948096G>A g.151568535G>A FAT2(NM_001447.2):c.397C>T (p.R133C) - FAT2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602G>C r.(?) p.(Gly201Ala) Unknown - likely benign g.150947891C>G g.151568330C>G FAT2(NM_001447.2):c.602G>C (p.G201A) - FAT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719C>T r.(?) p.(Ala240Val) Unknown - VUS g.150947774G>A g.151568213G>A FAT2(NM_001447.3):c.719C>T (p.A240V) - FAT2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789A>G r.(?) p.(Pro263=) Unknown - benign g.150947704T>C g.151568143T>C FAT2(NM_001447.2):c.789A>G (p.P263=) - FAT2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827T>C r.(?) p.(Leu276Pro) Unknown - likely benign g.150947666A>G g.151568105A>G FAT2(NM_001447.2):c.827T>C (p.L276P) - FAT2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.829G>C r.(?) p.(Val277Leu) Unknown - benign g.150947664C>G g.151568103C>G FAT2(NM_001447.2):c.829G>C (p.V277L) - FAT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981T>A r.(?) p.(His327Gln) Unknown - likely benign g.150947512A>T - FAT2(NM_001447.2):c.981T>A (p.(His327Gln)) - FAT2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007G>A r.(?) p.(Arg336Lys) Unknown - likely benign g.150947486C>T - FAT2(NM_001447.2):c.1007G>A (p.(Arg336Lys)) - FAT2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1086C>G r.(?) p.(Phe362Leu) Unknown - VUS g.150947407G>C g.151567846G>C FAT2(NM_001447.2):c.1086C>G (p.F362L), FAT2(NM_001447.3):c.1086C>G (p.(Phe362Leu)) - FAT2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086C>G r.(?) p.(Phe362Leu) Unknown - likely benign g.150947407G>C - FAT2(NM_001447.2):c.1086C>G (p.F362L), FAT2(NM_001447.3):c.1086C>G (p.(Phe362Leu)) - FAT2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103G>A r.(?) p.(Arg368Lys) Unknown - VUS g.150947390C>T g.151567829C>T FAT2(NM_001447.2):c.1103G>A (p.R368K) - FAT2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138C>T r.(?) p.(Arg380Cys) Unknown - likely benign g.150947355G>A - FAT2(NM_001447.3):c.1138C>T (p.R380C) - FAT2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>A r.(?) p.(Val384Met) Unknown - VUS g.150947343C>T g.151567782C>T FAT2(NM_001447.2):c.1150G>A (p.V384M) - FAT2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1273G>A r.(?) p.(Asp425Asn) Unknown - benign g.150947220C>T g.151567659C>T FAT2(NM_001447.2):c.1273G>A (p.D425N) - FAT2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1453C>T r.(?) p.(Arg485Trp) Unknown - likely benign g.150947040G>A - FAT2(NM_001447.2):c.1453C>T (p.R485W) - FAT2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1454G>A r.(?) p.(Arg485Gln) Unknown - VUS g.150947039C>T g.151567478C>T FAT2(NM_001447.2):c.1454G>A (p.R485Q) - FAT2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677C>T r.(?) p.(Asp559=) Unknown - likely benign g.150946816G>A g.151567255G>A FAT2(NM_001447.2):c.1677C>T (p.D559=) - FAT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1750A>T r.(?) p.(Met584Leu) Unknown - likely benign g.150946743T>A g.151567182T>A FAT2(NM_001447.2):c.1750A>T (p.M584L) - FAT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1880A>G r.(?) p.(Asn627Ser) Unknown - likely benign g.150946613T>C - FAT2(NM_001447.2):c.1880A>G (p.N627S) - FAT2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1903A>C r.(?) p.(Ser635Arg) Unknown - likely benign g.150946590T>G g.151567029T>G FAT2(NM_001447.2):c.1903A>C (p.S635R) - FAT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2165T>C r.(?) p.(Ile722Thr) Unknown - VUS g.150946328A>G - FAT2(NM_001447.2):c.2165T>C (p.I722T) - FAT2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2444A>G r.(?) p.(Asp815Gly) Unknown - VUS g.150946049T>C - FAT2(NM_001447.3):c.2444A>G (p.D815G) - FAT2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2448C>T r.(?) p.(Asn816=) Unknown - likely benign g.150946045G>A g.151566484G>A FAT2(NM_001447.2):c.2448C>T (p.N816=) - FAT2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2464C>T r.(?) p.(Pro822Ser) Unknown - benign g.150946029G>A g.151566468G>A FAT2(NM_001447.2):c.2464C>T (p.P822S) - FAT2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2485A>G r.(?) p.(Ile829Val) Unknown - VUS g.150946008T>C - FAT2(NM_001447.2):c.2485A>G (p.I829V) - FAT2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2647C>A r.(?) p.(Arg883Ser) Unknown - VUS g.150945846G>T g.151566285G>T FAT2(NM_001447.2):c.2647C>A (p.R883S) - FAT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2650G>A r.(?) p.(Glu884Lys) Unknown - VUS g.150945843C>T g.151566282C>T FAT2(NM_001447.2):c.2650G>A (p.E884K), FAT2(NM_001447.3):c.2650G>A (p.(Glu884Lys)) - FAT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2650G>A r.(?) p.(Glu884Lys) Unknown - VUS g.150945843C>T - FAT2(NM_001447.2):c.2650G>A (p.E884K), FAT2(NM_001447.3):c.2650G>A (p.(Glu884Lys)) - FAT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2884T>C r.(?) p.(Tyr962His) Unknown - VUS g.150945609A>G g.151566048A>G FAT2(NM_001447.2):c.2884T>C (p.Y962H) - FAT2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2918G>T r.(?) p.(Arg973Leu) Unknown - likely benign g.150945575C>A g.151566014C>A FAT2(NM_001447.2):c.2918G>T (p.R973L) - FAT2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2926dup r.(?) p.(Leu976ProfsTer15) Unknown - VUS g.150945568dup g.151566007dup FAT2(NM_001447.3):c.2926dupC (p.L976Pfs*15) - FAT2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2940G>C r.(?) p.(Ala980=) Unknown - likely benign g.150945553C>G g.151565992C>G FAT2(NM_001447.2):c.2940G>C (p.A980=) - FAT2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2991G>A r.(?) p.(Leu997=) Unknown - likely benign g.150945502C>T g.151565941C>T FAT2(NM_001447.2):c.2991G>A (p.L997=) - FAT2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3028C>T r.(?) p.(Arg1010Cys) Unknown - VUS g.150945465G>A g.151565904G>A FAT2(NM_001447.2):c.3028C>T (p.R1010C, p.(Arg1010Cys)), FAT2(NM_001447.3):c.3028C>T (p.R1010C) - FAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3028C>T r.(?) p.(Arg1010Cys) Unknown - VUS g.150945465G>A g.151565904G>A FAT2(NM_001447.2):c.3028C>T (p.R1010C, p.(Arg1010Cys)), FAT2(NM_001447.3):c.3028C>T (p.R1010C) - FAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3028C>T r.(?) p.(Arg1010Cys) Unknown - likely benign g.150945465G>A - FAT2(NM_001447.2):c.3028C>T (p.R1010C, p.(Arg1010Cys)), FAT2(NM_001447.3):c.3028C>T (p.R1010C) - FAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3135C>A r.(?) p.(Ser1045Arg) Unknown - VUS g.150945358G>T - FAT2(NM_001447.2):c.3135C>A (p.S1045R) - FAT2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3175G>A r.(?) p.(Asp1059Asn) Unknown - likely benign g.150945318C>T - FAT2(NM_001447.2):c.3175G>A (p.D1059N) - FAT2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3386A>G r.(?) p.(Asp1129Gly) Unknown - VUS g.150943074T>C - FAT2(NM_001447.2):c.3386A>G (p.(Asp1129Gly)) - FAT2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3399C>A r.(?) p.(Asn1133Lys) Unknown - likely benign g.150943061G>T g.151563500G>T FAT2(NM_001447.2):c.3399C>A (p.N1133K), FAT2(NM_001447.3):c.3399C>A (p.N1133K) - FAT2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3399C>A r.(?) p.(Asn1133Lys) Unknown - likely benign g.150943061G>T - FAT2(NM_001447.2):c.3399C>A (p.N1133K), FAT2(NM_001447.3):c.3399C>A (p.N1133K) - FAT2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3475C>A r.(?) p.(Leu1159Met) Unknown - VUS g.150942985G>T g.151563424G>T FAT2(NM_001447.2):c.3475C>A (p.L1159M) - FAT2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3555T>C r.(?) p.(Phe1185=) Unknown - likely benign g.150942905A>G g.151563344A>G FAT2(NM_001447.2):c.3555T>C (p.F1185=) - FAT2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4043C>G r.(?) p.(Ala1348Gly) Unknown - likely benign g.150932851G>C - FAT2(NM_001447.2):c.4043C>G (p.A1348G) - FAT2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4089T>C r.(?) p.(Pro1363=) Unknown - likely benign g.150932805A>G - FAT2(NM_001447.2):c.4089T>C (p.P1363=) - FAT2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4116C>T r.(?) p.(Ser1372=) Unknown - likely benign g.150932778G>A g.151553217G>A FAT2(NM_001447.2):c.4116C>T (p.S1372=) - FAT2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4207G>A r.(?) p.(Val1403Ile) Unknown - likely benign g.150931117C>T - FAT2(NM_001447.2):c.4207G>A (p.(Val1403Ile)) - FAT2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4239G>A r.(?) p.(Arg1413=) Unknown - likely benign g.150931085C>T g.151551524C>T FAT2(NM_001447.2):c.4239G>A (p.R1413=) - FAT2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4239G>C r.(?) p.(Arg1413Ser) Unknown - likely benign g.150931085C>G - FAT2(NM_001447.2):c.4239G>C (p.R1413S) - FAT2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4370T>C r.(?) p.(Val1457Ala) Unknown - likely pathogenic g.150930359A>G g.151550798A>G - - FAT2_000053 - PubMed: Rafehi 2019 - - Unknown - - - - - DNA PCR, SEQ, Southern - WES ataxia CANVAS19 PubMed: Rafehi 2019 - F - - Europe - - - - 1 Johan den Dunnen
-?/. - c.4405C>A r.(?) p.(Arg1469=) Unknown - likely benign g.150930324G>T - FAT2(NM_001447.2):c.4405C>A (p.R1469=) - FAT2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4563C>T r.(?) p.(His1521=) Unknown - likely benign g.150930166G>A g.151550605G>A FAT2(NM_001447.2):c.4563C>T (p.H1521=) - FAT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4640A>T r.(?) p.(Asp1547Val) Unknown - VUS g.150929005T>A - FAT2(NM_001447.2):c.4640A>T (p.D1547V) - FAT2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4732C>T r.(?) p.(Arg1578Ter) Unknown - VUS g.150928913G>A g.151549352G>A FAT2(NM_001447.2):c.4732C>T (p.R1578*) - FAT2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4868A>G r.(?) p.(His1623Arg) Unknown - likely benign g.150925820T>C g.151546259T>C FAT2(NM_001447.2):c.4868A>G (p.H1623R) - FAT2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4983A>G r.(?) p.(Ser1661=) Unknown - likely benign g.150925705T>C g.151546144T>C FAT2(NM_001447.2):c.4983A>G (p.S1661=) - FAT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5019C>T r.(?) p.(Ile1673=) Unknown - likely benign g.150925669G>A g.151546108G>A FAT2(NM_001447.2):c.5019C>T (p.I1673=) - FAT2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5079G>A r.(?) p.(Glu1693=) Unknown - likely benign g.150925609C>T - FAT2(NM_001447.2):c.5079G>A (p.E1693=) - FAT2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5230G>C r.(?) p.(Val1744Leu) Unknown - likely benign g.150925458C>G g.151545897C>G FAT2(NM_001447.2):c.5230G>C (p.V1744L) - FAT2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5280G>A r.(?) p.(Lys1760=) Unknown - likely benign g.150925408C>T - FAT2(NM_001447.2):c.5280G>A (p.K1760=) - FAT2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5420C>T r.(?) p.(Pro1807Leu) Unknown - VUS g.150925268G>A g.151545707G>A FAT2(NM_001447.2):c.5420C>T (p.P1807L) - FAT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5424G>A r.(?) p.(Glu1808=) Unknown - likely benign g.150925264C>T g.151545703C>T FAT2(NM_001447.2):c.5424G>A (p.E1808=) - FAT2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5477C>T r.(?) p.(Ser1826Leu) Unknown - likely benign g.150925211G>A g.151545650G>A FAT2(NM_001447.2):c.5477C>T (p.S1826L) - FAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5545G>A r.(?) p.(Val1849Ile) Unknown - benign g.150925143C>T g.151545582C>T FAT2(NM_001447.2):c.5545G>A (p.V1849I) - FAT2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5642T>C r.(?) p.(Ile1881Thr) Unknown - likely benign g.150925046A>G - FAT2(NM_001447.2):c.5642T>C (p.I1881T) - FAT2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5670G>C r.(?) p.(Glu1890Asp) Unknown - likely benign g.150925018C>G g.151545457C>G FAT2(NM_001447.2):c.5670G>C (p.E1890D) - FAT2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5726C>T r.(?) p.(Thr1909Ile) Unknown - likely benign g.150924962G>A g.151545401G>A FAT2(NM_001447.2):c.5726C>T (p.T1909I) - FAT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5837G>A r.(?) p.(Gly1946Asp) Unknown - VUS g.150924851C>T g.151545290C>T FAT2(NM_001447.2):c.5837G>A (p.G1946D) - FAT2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5916C>T r.(?) p.(Val1972=) Unknown - likely benign g.150924772G>A - FAT2(NM_001447.2):c.5916C>T (p.V1972=) - FAT2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6040A>G r.(?) p.(Met2014Val) Unknown - VUS g.150924648T>C - FAT2(NM_001447.2):c.6040A>G (p.M2014V) - FAT2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6149G>A r.(?) p.(Arg2050Gln) Unknown - VUS g.150924539C>T - FAT2(NM_001447.2):c.6149G>A (p.R2050Q) - FAT2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6150_6151del r.(?) p.(Val2051Glyfs*10) Unknown - pathogenic g.150924538_150924539del - FAT2(NM_001447.2):c.6150_6151delGG (p.V2051Gfs*10) - FAT2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6449C>T r.(?) p.(Thr2150Met) Unknown - likely benign g.150924239G>A g.151544678G>A FAT2(NM_001447.2):c.6449C>T (p.T2150M) - FAT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6449C>T r.(?) p.(Thr2150Met) Unknown - VUS g.150924239G>A g.151544678G>A - - FAT2_000005 - - - - Germline - - - - - DNA arraySEQ - - MR;ID RM208 - - M no - - - - - - 1 Karine Poirier
?/. - c.6461A>C r.(?) p.(Gln2154Pro) Unknown - VUS g.150924227T>G g.151544666T>G FAT2(NM_001447.2):c.6461A>C (p.(Gln2154Pro)) - FAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6974A>G r.(?) p.(Asn2325Ser) Unknown - likely benign g.150923714T>C - FAT2(NM_001447.2):c.6974A>G (p.N2325S), FAT2(NM_001447.3):c.6974A>G (p.N2325S) - FAT2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6974A>G r.(?) p.(Asn2325Ser) Unknown - likely benign g.150923714T>C - FAT2(NM_001447.2):c.6974A>G (p.N2325S), FAT2(NM_001447.3):c.6974A>G (p.N2325S) - FAT2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7308T>C r.(?) p.(Ile2436=) Unknown - likely benign g.150923380A>G - FAT2(NM_001447.2):c.7308T>C (p.I2436=) - FAT2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7394_7395del r.(?) p.(Val2465Alafs*22) Unknown - likely pathogenic g.150923295_150923296del - FAT2(NM_001447.2):c.7394_7395delTG (p.(Val2465fs)) - FAT2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7413T>C r.(?) p.(Thr2471=) Unknown - likely benign g.150923275A>G g.151543714A>G FAT2(NM_001447.2):c.7413T>C (p.T2471=) - FAT2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7502T>C r.(?) p.(Ile2501Thr) Unknown - VUS g.150923186A>G g.151543625A>G FAT2(NM_001447.2):c.7502T>C (p.I2501T) - FAT2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7536C>G r.(?) p.(Pro2512=) Unknown - likely benign g.150923152G>C g.151543591G>C FAT2(NM_001447.2):c.7536C>G (p.P2512=) - FAT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7646C>G r.(?) p.(Thr2549Arg) Unknown - VUS g.150923042G>C - - - FAT2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7701C>T r.(?) p.(Ala2567=) Unknown - likely benign g.150922987G>A g.151543426G>A FAT2(NM_001447.2):c.7701C>T (p.A2567=) - FAT2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7780A>G r.(?) p.(Ile2594Val) Unknown - likely benign g.150922908T>C - FAT2(NM_001447.2):c.7780A>G (p.I2594V) - FAT2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7989C>G r.(?) p.(Ala2663=) Unknown - likely benign g.150922699G>C g.151543138G>C FAT2(NM_001447.2):c.7989C>G (p.A2663=) - FAT2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7995T>G r.(?) p.(Asp2665Glu) Unknown - VUS g.150922693A>C g.151543132A>C FAT2(NM_001447.2):c.7995T>G (p.D2665E) - FAT2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8111T>G r.(?) p.(Leu2704Arg) Unknown - likely benign g.150922577A>C g.151543016A>C FAT2(NM_001447.2):c.8111T>G (p.L2704R) - FAT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8328T>G r.(?) p.(Asp2776Glu) Unknown - likely benign g.150922360A>C g.151542799A>C FAT2(NM_001447.2):c.8328T>G (p.D2776E) - FAT2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8621A>G r.(?) p.(His2874Arg) Unknown - likely benign g.150922067T>C g.151542506T>C FAT2(NM_001447.2):c.8621A>G (p.H2874R) - FAT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8860C>A r.(?) p.(Gln2954Lys) Unknown - VUS g.150920307G>T - FAT2(NM_001447.2):c.8860C>A (p.Q2954K) - FAT2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9010G>A r.(?) p.(Val3004Ile) Unknown - likely benign g.150920157C>T g.151540596C>T FAT2(NM_001447.2):c.9010G>A (p.V3004I) - FAT2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9063T>C r.(?) p.(His3021=) Unknown - likely benign g.150917484A>G g.151537923A>G FAT2(NM_001447.2):c.9063T>C (p.H3021=) - FAT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9193+7T>A r.(=) p.(=) Unknown - likely benign g.150917347A>T - FAT2(NM_001447.3):c.9193+7T>A - FAT2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9277C>T r.(?) p.(Arg3093Ter) Unknown - VUS g.150914120G>A g.151534559G>A FAT2(NM_001447.2):c.9277C>T (p.R3093*) - FAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9341T>C r.(?) p.(Phe3114Ser) Unknown - VUS g.150914056A>G g.151534495A>G - - FAT2_000014 - - - - Germline - - - - - DNA arraySEQ - - MR;ID RM208 - - M no - - - - - - 1 Karine Poirier
?/. - c.9386A>G r.(?) p.(Lys3129Arg) Unknown - VUS g.150914011T>C - FAT2(NM_001447.2):c.9386A>G (p.K3129R) - FAT2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9497C>T r.(?) p.(Thr3166Met) Unknown - VUS g.150911462G>A - FAT2(NM_001447.2):c.9497C>T (p.T3166M) - FAT2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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