Related gene-specific medical variations for Gene (Select 2195) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373303	NM_005245.4(FAT1):c.11091T>A (p.Phe3697Leu)	FAT1, LOC126807254 (F3697L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363199	NM_005245.4(FAT1):c.8878+1G>T	FAT1, LOC126807255	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3361480	NM_005245.4(FAT1):c.1568A>G (p.Glu523Gly)	FAT1 (E523G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361479	NM_005245.4(FAT1):c.5684G>C (p.Gly1895Ala)	FAT1 (G1895A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361123	NM_005245.4(FAT1):c.7390A>C (p.Asn2464His)	FAT1 (N2464H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361122	NM_005245.4(FAT1):c.10770C>G (p.Phe3590Leu)	FAT1 (F3590L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360322	NM_005245.4(FAT1):c.5087C>T (p.Ser1696Leu)	FAT1 (S1696L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353094	NM_005245.4(FAT1):c.13597G>A (p.Glu4533Lys)	FAT1, LOC126807253 (E4533K)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3351928	NM_005245.4(FAT1):c.13290C>T (p.Asp4430=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	FAT1-related disorder	GLikely benign
Select item 3350785	NM_005245.4(FAT1):c.8721C>T (p.Thr2907=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	FAT1-related disorder	GLikely benign
Select item 3348390	NM_005245.4(FAT1):c.8936A>T (p.Tyr2979Phe)	FAT1, LOC126807255 (Y2979F)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3277794	NM_005245.4(FAT1):c.13705G>C (p.Asp4569His)	FAT1, LOC126807253 (D4569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277783	NM_005245.4(FAT1):c.8540G>T (p.Ser2847Ile)	FAT1, LOC126807255 (S2847I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277778	NM_005245.4(FAT1):c.8957G>A (p.Arg2986Lys)	FAT1, LOC126807255 (R2986K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257865	NM_005245.4(FAT1):c.8781del (p.Ser2928fs)	FAT1, LOC126807255 (S2928fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3252703	NM_005245.4(FAT1):c.11195A>G (p.Asn3732Ser)	FAT1, LOC126807254 (N3732S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3093083	NM_005245.4(FAT1):c.8823T>G (p.Ser2941Arg)	FAT1, LOC126807255 (S2941R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093046	NM_005245.4(FAT1):c.13672G>A (p.Glu4558Lys)	FAT1, LOC126807253 (E4558K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093045	NM_005245.4(FAT1):c.13607C>G (p.Pro4536Arg)	FAT1, LOC126807253 (P4536R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093044	NM_005245.4(FAT1):c.13484C>T (p.Pro4495Leu)	FAT1, LOC126807253 (P4495L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093043	NM_005245.4(FAT1):c.13475A>G (p.Asn4492Ser)	FAT1, LOC126807253 (N4492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093042	NM_005245.4(FAT1):c.13474A>C (p.Asn4492His)	FAT1, LOC126807253 (N4492H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093036	NM_005245.4(FAT1):c.13156T>C (p.Ser4386Pro)	FAT1, LOC126807253 (S4386P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093020	NM_005245.4(FAT1):c.11190A>G (p.Ile3730Met)	FAT1, LOC126807254 (I3730M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3093017	NM_005245.4(FAT1):c.10900G>A (p.Val3634Ile)	FAT1, LOC126807254 (V3634I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3093015	NM_005245.4(FAT1):c.10552G>A (p.Ala3518Thr)	FAT1, LOC126807254 (A3518T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061371	NM_005245.4(FAT1):c.10879A>T (p.Ile3627Phe)	FAT1, LOC126807254 (I3627F)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3060804	NM_005245.4(FAT1):c.13351T>C (p.Leu4451=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	FAT1-related disorder	GLikely benign
Select item 3036329	NM_005245.4(FAT1):c.8878+8A>G	FAT1, LOC126807255	Single nucleotide variant (intron variant)	FAT1-related disorder	GLikely benign
Select item 3031953	NM_005245.4(FAT1):c.10791C>T (p.Gly3597=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	FAT1-related disorder	GLikely benign
Select item 3030692	NM_005245.4(FAT1):c.*7A>G	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	FAT1-related disorder	GLikely benign
Select item 3001643	NM_005245.4(FAT1):c.8879-13A>G	FAT1, LOC126807255	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976908	NM_005245.4(FAT1):c.13620C>T (p.Tyr4540=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965077	NM_005245.4(FAT1):c.13722G>A (p.Glu4574=)	LOC126807253, FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959411	NM_005245.4(FAT1):c.11196T>C (p.Asn3732=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910624	NM_005245.4(FAT1):c.8829G>A (p.Thr2943=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906145	NM_005245.4(FAT1):c.8529A>G (p.Gln2843=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898198	NM_005245.4(FAT1):c.9003C>T (p.Gly3001=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875385	NM_005245.4(FAT1):c.10993C>T (p.Arg3665Ter)	FAT1, LOC126807254 (R3665*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2864616	NM_005245.4(FAT1):c.10956G>A (p.Pro3652=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828225	NM_005245.4(FAT1):c.11283A>G (p.Thr3761=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724465	NM_005245.4(FAT1):c.8736C>T (p.Asn2912=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717299	NM_005245.4(FAT1):c.10626G>A (p.Pro3542=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712777	NM_005245.4(FAT1):c.13464G>A (p.Gln4488=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712235	NM_005245.4(FAT1):c.11064T>C (p.Pro3688=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689050	NM_005245.4(FAT1):c.5794A>G (p.Lys1932Glu)	FAT1 (K1932E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689049	NM_005245.4(FAT1):c.13189A>G (p.Ile4397Val)	FAT1, LOC126807253 (I4397V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689048	NM_005245.4(FAT1):c.1241A>G (p.Asn414Ser)	FAT1 (N414S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655222	NM_005245.4(FAT1):c.8666C>T (p.Ala2889Val)	FAT1, LOC126807255 (A2889V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655219	NM_005245.4(FAT1):c.11002C>T (p.Arg3668Trp)	FAT1, LOC126807254 (R3668W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635387	NM_005245.4(FAT1):c.13627A>G (p.Thr4543Ala)	FAT1, LOC126807253 (T4543A)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2634180	NM_005245.4(FAT1):c.10747G>A (p.Asp3583Asn)	FAT1, LOC126807254 (D3583N)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2633745	NM_005245.4(FAT1):c.4867A>G (p.Lys1623Glu)	FAT1, LOC132090718 (K1623E)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2632838	NM_005245.4(FAT1):c.8809A>G (p.Ile2937Val)	FAT1, LOC126807255 (I2937V)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2631897	NM_005245.4(FAT1):c.10846G>A (p.Val3616Ile)	FAT1, LOC126807254 (V3616I)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2631421	NM_005245.4(FAT1):c.8658A>C (p.Lys2886Asn)	FAT1, LOC126807255 (K2886N)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2630285	NM_005245.4(FAT1):c.13697G>A (p.Ser4566Asn)	FAT1, LOC126807253 (S4566N)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2629321	NM_005245.4(FAT1):c.8749C>T (p.Arg2917Ter)	FAT1, LOC126807255 (R2917*)	Single nucleotide variant (nonsense)	FAT1-related disorder	GLikely pathogenic
Select item 2629127	NM_005245.4(FAT1):c.11003G>T (p.Arg3668Leu)	FAT1, LOC126807254 (R3668L)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2622207	NM_005245.4(FAT1):c.13586C>T (p.Ala4529Val)	FAT1, LOC126807253 (A4529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2620289	NM_005245.4(FAT1):c.8849T>C (p.Ile2950Thr)	FAT1, LOC126807255 (I2950T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618555	NM_005245.4(FAT1):c.8660T>C (p.Val2887Ala)	FAT1, LOC126807255 (V2887A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600103	NM_005245.4(FAT1):c.13412C>T (p.Ala4471Val)	FAT1, LOC126807253 (A4471V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2553672	NM_005245.4(FAT1):c.8725A>C (p.Thr2909Pro)	FAT1, LOC126807255 (T2909P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534791	NM_005245.4(FAT1):c.13505A>G (p.Gln4502Arg)	FAT1, LOC126807253 (Q4502R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533346	NM_005245.4(FAT1):c.8498C>T (p.Ala2833Val)	FAT1, LOC126807255 (A2833V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501473	NM_005245.4(FAT1):c.11247T>A (p.Asp3749Glu)	FAT1, LOC126807254 (D3749E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488306	NM_005245.4(FAT1):c.8989A>T (p.Thr2997Ser)	FAT1, LOC126807255 (T2997S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471448	NM_005245.4(FAT1):c.13630G>A (p.Ala4544Thr)	FAT1, LOC126807253 (A4544T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463978	NM_005245.4(FAT1):c.11159C>G (p.Thr3720Ser)	FAT1, LOC126807254 (T3720S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411170	NM_005245.4(FAT1):c.13411G>A (p.Ala4471Thr)	FAT1, LOC126807253 (A4471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408893	NM_005245.4(FAT1):c.8468C>T (p.Pro2823Leu)	FAT1, LOC126807255 (P2823L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2408892	NM_005245.4(FAT1):c.13645G>A (p.Val4549Met)	FAT1, LOC126807253 (V4549M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2407057	NM_005245.4(FAT1):c.13353A>C (p.Leu4451Phe)	FAT1, LOC126807253 (L4451F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405145	NM_005245.4(FAT1):c.13276C>T (p.Pro4426Ser)	FAT1, LOC126807253 (P4426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320530	NM_005245.4(FAT1):c.8437C>T (p.Pro2813Ser)	FAT1, LOC126807255 (P2813S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319522	NM_005245.4(FAT1):c.13208A>G (p.Tyr4403Cys)	FAT1, LOC126807253 (Y4403C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302913	NM_005245.4(FAT1):c.10982G>A (p.Arg3661His)	FAT1, LOC126807254 (R3661H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294114	NM_005245.4(FAT1):c.11036A>G (p.Gln3679Arg)	FAT1, LOC126807254 (Q3679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2288517	NM_005245.4(FAT1):c.8615T>C (p.Leu2872Ser)	FAT1, LOC126807255 (L2872S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287488	NM_005245.4(FAT1):c.8887C>G (p.Pro2963Ala)	FAT1, LOC126807255 (P2963A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2279024	NM_005245.4(FAT1):c.13537A>G (p.Arg4513Gly)	FAT1, LOC126807253 (R4513G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276359	NM_005245.4(FAT1):c.13184C>T (p.Pro4395Leu)	FAT1, LOC126807253 (P4395L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2275540	NM_005245.4(FAT1):c.8715T>A (p.Asp2905Glu)	FAT1, LOC126807255 (D2905E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265481	NM_005245.4(FAT1):c.13594G>A (p.Val4532Ile)	FAT1, LOC126807253 (V4532I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258113	NM_005245.4(FAT1):c.13489G>A (p.Asp4497Asn)	FAT1, LOC126807253 (D4497N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255552	NM_005245.4(FAT1):c.13255G>A (p.Ala4419Thr)	FAT1, LOC126807253 (A4419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251659	NM_005245.4(FAT1):c.10597A>G (p.Ile3533Val)	FAT1, LOC126807254 (I3533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239077	NM_005245.4(FAT1):c.8588A>G (p.Asn2863Ser)	FAT1, LOC126807255 (N2863S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215429	NM_005245.4(FAT1):c.10738T>C (p.Tyr3580His)	FAT1, LOC126807254 (Y3580H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209585	NM_005245.4(FAT1):c.8828C>T (p.Thr2943Met)	FAT1, LOC126807255 (T2943M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203600	NM_005245.4(FAT1):c.13265C>T (p.Thr4422Met)	FAT1, LOC126807253 (T4422M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191603	NM_005245.4(FAT1):c.8656A>G (p.Lys2886Glu)	FAT1, LOC126807255 (K2886E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191514	NM_005245.4(FAT1):c.8750G>A (p.Arg2917Gln)	FAT1, LOC126807255 (R2917Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182460	NM_005245.4(FAT1):c.10587A>G (p.Thr3529=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178981	NM_005245.4(FAT1):c.10659_10660delinsTG (p.Ser3554Ala)	FAT1, LOC126807254 (S3554A)	Indel (missense variant)	not provided	GLikely benign
Select item 2176780	NM_005245.4(FAT1):c.8903C>G (p.Ala2968Gly)	FAT1, LOC126807255 (A2968G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173001	NM_005245.4(FAT1):c.11080G>A (p.Val3694Ile)	FAT1, LOC126807254 (V3694I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2172250	NM_005245.4(FAT1):c.11165T>C (p.Ile3722Thr)	FAT1, LOC126807254 (I3722T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170546	NM_005245.4(FAT1):c.11022G>C (p.Arg3674Ser)	FAT1, LOC126807254 (R3674S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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