ClinVar 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 3372710	NM_005245.4(FAT1):c.9382G>A (p.Asp3128Asn)	FAT1 (D3128N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368816	NM_005245.4(FAT1):c.10387G>A (p.Val3463Ile)	FAT1 (V3463I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364606	NM_005245.4(FAT1):c.10027G>C (p.Val3343Leu)	FAT1 (V3343L)	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 3358199	NM_005245.4(FAT1):c.1562C>T (p.Thr521Met)	FAT1 (T521M)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3355169	NM_005245.4(FAT1):c.2912A>G (p.Glu971Gly)	FAT1 (E971G)	Single nucleotide variant (missense variant)	FAT1-related disorder	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 3350815	NM_005245.4(FAT1):c.658A>C (p.Met220Leu)	FAT1 (M220L)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
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 3348194	NM_005245.4(FAT1):c.4711G>A (p.Val1571Ile)	FAT1 (V1571I)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3345196	NM_005245.4(FAT1):c.847C>G (p.Gln283Glu)	FAT1 (Q283E)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 3277804	NM_005245.4(FAT1):c.1738A>G (p.Arg580Gly)	FAT1 (R580G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277802	NM_005245.4(FAT1):c.3289C>A (p.Leu1097Met)	FAT1 (L1097M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277801	NM_005245.4(FAT1):c.9398C>T (p.Thr3133Ile)	FAT1 (T3133I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277800	NM_005245.4(FAT1):c.496A>T (p.Thr166Ser)	FAT1 (T166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277799	NM_005245.4(FAT1):c.976G>A (p.Asp326Asn)	FAT1 (D326N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277798	NM_005245.4(FAT1):c.12428A>G (p.Glu4143Gly)	FAT1 (E4143G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277797	NM_005245.4(FAT1):c.5450A>G (p.His1817Arg)	FAT1 (H1817R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277796	NM_005245.4(FAT1):c.9400G>T (p.Val3134Leu)	FAT1 (V3134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277795	NM_005245.4(FAT1):c.265A>G (p.Ile89Val)	FAT1 (I89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3277792	NM_005245.4(FAT1):c.8126C>T (p.Thr2709Ile)	FAT1 (T2709I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277791	NM_005245.4(FAT1):c.6622A>G (p.Ser2208Gly)	FAT1 (S2208G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277790	NM_005245.4(FAT1):c.7888G>A (p.Asp2630Asn)	FAT1 (D2630N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3277789	NM_005245.4(FAT1):c.9286C>G (p.Leu3096Val)	FAT1 (L3096V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277788	NM_005245.4(FAT1):c.2144A>G (p.Gln715Arg)	FAT1 (Q715R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277787	NM_005245.4(FAT1):c.1467C>A (p.Asp489Glu)	FAT1 (D489E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277786	NM_005245.4(FAT1):c.5915G>A (p.Ser1972Asn)	FAT1 (S1972N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277785	NM_005245.4(FAT1):c.6433A>G (p.Thr2145Ala)	FAT1 (T2145A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277784	NM_005245.4(FAT1):c.2839_2840del (p.Met947fs)	FAT1 (M947fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 3277782	NM_005245.4(FAT1):c.5641A>G (p.Lys1881Glu)	FAT1 (K1881E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3277781	NM_005245.4(FAT1):c.8258T>C (p.Ile2753Thr)	FAT1 (I2753T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277780	NM_005245.4(FAT1):c.9727A>G (p.Ile3243Val)	FAT1 (I3243V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3277779	NM_005245.4(FAT1):c.4729G>A (p.Val1577Ile)	FAT1 (V1577I)	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 3277777	NM_005245.4(FAT1):c.7886C>G (p.Ala2629Gly)	FAT1 (A2629G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277775	NM_005245.4(FAT1):c.125C>A (p.Thr42Asn)	FAT1 (T42N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277774	NM_005245.4(FAT1):c.5065G>A (p.Val1689Ile)	FAT1 (V1689I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277773	NM_005245.4(FAT1):c.13076G>A (p.Arg4359Gln)	FAT1 (R4359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277772	NM_005245.4(FAT1):c.9646G>A (p.Val3216Met)	FAT1 (V3216M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277771	NM_005245.4(FAT1):c.3187G>C (p.Ala1063Pro)	FAT1 (A1063P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277770	NM_005245.4(FAT1):c.6193G>A (p.Val2065Ile)	FAT1 (V2065I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277769	NM_005245.4(FAT1):c.4987G>A (p.Ala1663Thr)	FAT1 (A1663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277767	NM_005245.4(FAT1):c.6962A>G (p.Gln2321Arg)	FAT1 (Q2321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257867	NM_005245.4(FAT1):c.2069C>T (p.Ala690Val)	FAT1 (A690V)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain 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 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3234767	NM_005245.4(FAT1):c.6786C>G (p.Gly2262=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234430	NM_005245.4(FAT1):c.3186C>T (p.Asp1062=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234379	NM_005245.4(FAT1):c.12415G>A (p.Gly4139Arg)	FAT1 (G4139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3093087	NM_005245.4(FAT1):c.9896A>G (p.His3299Arg)	FAT1 (H3299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093086	NM_005245.4(FAT1):c.944A>G (p.Tyr315Cys)	FAT1 (Y315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093085	NM_005245.4(FAT1):c.9418C>A (p.Pro3140Thr)	FAT1 (P3140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093084	NM_005245.4(FAT1):c.9251C>G (p.Pro3084Arg)	FAT1 (P3084R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3093082	NM_005245.4(FAT1):c.859G>A (p.Gly287Ser)	FAT1 (G287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093081	NM_005245.4(FAT1):c.7804G>A (p.Glu2602Lys)	FAT1 (E2602K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093080	NM_005245.4(FAT1):c.7724G>A (p.Gly2575Glu)	FAT1 (G2575E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093079	NM_005245.4(FAT1):c.7256G>C (p.Ser2419Thr)	FAT1 (S2419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093078	NM_005245.4(FAT1):c.6763C>T (p.Arg2255Cys)	FAT1 (R2255C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093077	NM_005245.4(FAT1):c.6607C>T (p.His2203Tyr)	FAT1 (H2203Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093076	NM_005245.4(FAT1):c.6544T>G (p.Phe2182Val)	FAT1 (F2182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093075	NM_005245.4(FAT1):c.6527A>G (p.Asn2176Ser)	FAT1 (N2176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093073	NM_005245.4(FAT1):c.6289G>A (p.Gly2097Ser)	FAT1 (G2097S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093072	NM_005245.4(FAT1):c.6080G>A (p.Arg2027His)	FAT1 (R2027H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093071	NM_005245.4(FAT1):c.5821A>G (p.Thr1941Ala)	FAT1 (T1941A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093070	NM_005245.4(FAT1):c.578A>G (p.Asp193Gly)	FAT1 (D193G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093069	NM_005245.4(FAT1):c.5765A>G (p.Asn1922Ser)	FAT1 (N1922S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093068	NM_005245.4(FAT1):c.572G>A (p.Arg191Gln)	FAT1 (R191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093066	NM_005245.4(FAT1):c.5563C>G (p.Pro1855Ala)	FAT1 (P1855A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093065	NM_005245.4(FAT1):c.5332G>A (p.Ala1778Thr)	FAT1 (A1778T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093063	NM_005245.4(FAT1):c.4741G>T (p.Val1581Leu)	FAT1 (V1581L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093061	NM_005245.4(FAT1):c.4052C>T (p.Pro1351Leu)	FAT1 (P1351L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093060	NM_005245.4(FAT1):c.3625G>T (p.Asp1209Tyr)	FAT1 (D1209Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093059	NM_005245.4(FAT1):c.3186C>A (p.Asp1062Glu)	FAT1 (D1062E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093058	NM_005245.4(FAT1):c.3167T>C (p.Val1056Ala)	FAT1 (V1056A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093056	NM_005245.4(FAT1):c.2879G>C (p.Gly960Ala)	FAT1 (G960A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093055	NM_005245.4(FAT1):c.2830A>G (p.Thr944Ala)	FAT1 (T944A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093054	NM_005245.4(FAT1):c.2788C>T (p.Pro930Ser)	FAT1 (P930S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093052	NM_005245.4(FAT1):c.2492T>C (p.Val831Ala)	FAT1 (V831A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093051	NM_005245.4(FAT1):c.1883G>A (p.Arg628Gln)	FAT1 (R628Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3093050	NM_005245.4(FAT1):c.1859A>T (p.Asn620Ile)	FAT1 (N620I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093049	NM_005245.4(FAT1):c.1771G>A (p.Val591Ile)	FAT1 (V591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093048	NM_005245.4(FAT1):c.1697C>T (p.Thr566Ile)	FAT1 (T566I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093047	NM_005245.4(FAT1):c.1459G>A (p.Ala487Thr)	FAT1 (A487T)	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

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