ClinVar for Gene (Select 80206) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368536	NM_001281740.3(FHOD3):c.1691C>T (p.Pro564Leu)	FHOD3 (P564L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365334	NM_001281740.3(FHOD3):c.923A>T (p.Asp308Val)	FHOD3 (D308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364992	NM_001281740.3(FHOD3):c.3820del (p.Thr1274fs)	FHOD3 (T1082fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3363119	NM_001281740.3(FHOD3):c.4708G>A (p.Val1570Ile)	FHOD3 (V1370I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3363118	NM_001281740.3(FHOD3):c.2059G>A (p.Glu687Lys)	FHOD3 (E495K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3363117	NM_001281740.3(FHOD3):c.531G>T (p.Leu177Phe)	FHOD3 (L177F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3362741	NM_001281740.3(FHOD3):c.511G>C (p.Ala171Pro)	FHOD3 (A171P)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3354595	NM_001281740.3(FHOD3):c.1004C>G (p.Pro335Arg)	FHOD3 (P335R)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GBenign
Select item 3353358	NM_001281740.3(FHOD3):c.3637G>A (p.Ala1213Thr)	FHOD3 (A1021T +2 more)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GUncertain significance
Select item 3349532	NM_001281740.3(FHOD3):c.4600C>T (p.Arg1534Cys)	FHOD3 (R1334C +2 more)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GUncertain significance
Select item 3340510	NM_001281740.3(FHOD3):c.1924GAA[1] (p.Glu643del)	FHOD3 (E468del +1 more)	Microsatellite (inframe_deletion)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3337114	NM_001281740.3(FHOD3):c.3260G>A (p.Arg1087His)	FHOD3 (R1087H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337113	NM_001281740.3(FHOD3):c.851A>G (p.Asp284Gly)	FHOD3 (D284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337112	NM_001281740.3(FHOD3):c.512C>G (p.Ala171Gly)	FHOD3 (A171G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337111	NM_001281740.3(FHOD3):c.270C>T (p.Ala90=)	FHOD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3278859	NM_001281740.3(FHOD3):c.50T>C (p.Phe17Ser)	FHOD3 (F17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278857	NM_001281740.3(FHOD3):c.305C>T (p.Thr102Met)	FHOD3 (T102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278856	NM_001281740.3(FHOD3):c.4121T>C (p.Ile1374Thr)	FHOD3 (I1182T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278855	NM_001281740.3(FHOD3):c.1057G>A (p.Glu353Lys)	FHOD3 (E353K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278854	NM_001281740.3(FHOD3):c.3508C>G (p.Pro1170Ala)	FHOD3 (P1170A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278853	NM_001281740.3(FHOD3):c.3375G>C (p.Glu1125Asp)	FHOD3 (E933D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278852	NM_001281740.3(FHOD3):c.3172C>T (p.Pro1058Ser)	FHOD3 (P1058S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278851	NM_001281740.3(FHOD3):c.4268C>A (p.Pro1423His)	FHOD3 (P1423H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278850	NM_001281740.3(FHOD3):c.2996A>G (p.Asp999Gly)	FHOD3 (D807G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278849	NM_001281740.3(FHOD3):c.2483C>T (p.Thr828Met)	FHOD3 (T828M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278846	NM_001281740.3(FHOD3):c.815C>T (p.Thr272Met)	FHOD3 (T272M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255380	NM_001281740.3(FHOD3):c.3362C>T (p.Thr1121Ile)	FHOD3 (T1121I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3255140	NM_001281740.3(FHOD3):c.1271G>C (p.Cys424Ser)	FHOD3 (C424S)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3254772	NM_001281740.3(FHOD3):c.4090T>G (p.Cys1364Gly)	FHOD3 (C1172G +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3254771	NM_001281740.3(FHOD3):c.1972C>T (p.Arg658Ter)	FHOD3 (R483* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3254770	NM_001281740.3(FHOD3):c.1702C>T (p.Arg568Ter)	FHOD3 (R568*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3253564	NM_001281740.3(FHOD3):c.3385G>A (p.Glu1129Lys)	FHOD3 (E1129K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252708	NM_001281740.3(FHOD3):c.3591G>C (p.Met1197Ile)	FHOD3 (M1005I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238795	NM_001281740.3(FHOD3):c.1355C>G (p.Pro452Arg)	FHOD3 (P452R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3095161	NM_001281740.3(FHOD3):c.972C>G (p.His324Gln)	FHOD3 (H324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095160	NM_001281740.3(FHOD3):c.856G>A (p.Val286Met)	FHOD3 (V286M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095159	NM_001281740.3(FHOD3):c.850G>A (p.Asp284Asn)	FHOD3 (D284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095158	NM_001281740.3(FHOD3):c.826C>A (p.Leu276Ile)	FHOD3 (L276I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095157	NM_001281740.3(FHOD3):c.803T>C (p.Leu268Ser)	FHOD3 (L268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095156	NM_001281740.3(FHOD3):c.70G>A (p.Glu24Lys)	FHOD3, LOC130062385 (E24K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095155	NM_001281740.3(FHOD3):c.4825G>A (p.Ala1609Thr)	FHOD3 (A1609T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095154	NM_001281740.3(FHOD3):c.4578C>A (p.Asp1526Glu)	FHOD3 (D1326E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095153	NM_001281740.3(FHOD3):c.4547T>C (p.Val1516Ala)	FHOD3 (V1316A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095152	NM_001281740.3(FHOD3):c.4511C>T (p.Ala1504Val)	FHOD3 (A1321V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095151	NM_001281740.3(FHOD3):c.4483C>G (p.Pro1495Ala)	FHOD3 (P1312A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095149	NM_001281740.3(FHOD3):c.3841A>T (p.Thr1281Ser)	FHOD3 (T1089S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095148	NM_001281740.3(FHOD3):c.3700G>A (p.Glu1234Lys)	FHOD3 (E1059K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095147	NM_001281740.3(FHOD3):c.3188C>T (p.Ala1063Val)	FHOD3 (A871V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095146	NM_001281740.3(FHOD3):c.3111T>C (p.Pro1037=)	FHOD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3095145	NM_001281740.3(FHOD3):c.3098C>T (p.Pro1033Leu)	FHOD3 (P1033L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095144	NM_001281740.3(FHOD3):c.3002G>A (p.Gly1001Glu)	FHOD3 (G1001E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095143	NM_001281740.3(FHOD3):c.2903C>T (p.Ala968Val)	FHOD3 (A968V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095142	NM_001281740.3(FHOD3):c.2887A>G (p.Lys963Glu)	FHOD3 (K771E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095141	NM_001281740.3(FHOD3):c.2860A>G (p.Ile954Val)	FHOD3 (I762V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095140	NM_001281740.3(FHOD3):c.2845C>G (p.Leu949Val)	FHOD3 (L774V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095139	NM_001281740.3(FHOD3):c.2801G>A (p.Arg934Gln)	FHOD3 (R934Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095138	NM_001281740.3(FHOD3):c.2744A>G (p.Asn915Ser)	FHOD3 (N723S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095137	NM_001281740.3(FHOD3):c.2617A>T (p.Met873Leu)	FHOD3 (M681L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095136	NM_001281740.3(FHOD3):c.202G>A (p.Ala68Thr)	FHOD3 (A68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095134	NM_001281740.3(FHOD3):c.2182C>G (p.Gln728Glu)	FHOD3 (Q553E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095133	NM_001281740.3(FHOD3):c.2083G>A (p.Val695Met)	FHOD3 (V695M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095132	NM_001281740.3(FHOD3):c.1972C>G (p.Arg658Gly)	FHOD3 (R658G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095131	NM_001281740.3(FHOD3):c.1183G>A (p.Asp395Asn)	FHOD3 (D395N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095130	NM_001281740.3(FHOD3):c.1156C>T (p.Pro386Ser)	FHOD3 (P386S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095129	NM_001281740.3(FHOD3):c.1021C>T (p.Arg341Trp)	FHOD3 (R341W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095128	NM_001281740.3(FHOD3):c.1010G>A (p.Gly337Glu)	FHOD3 (G337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068700	NM_001281740.3(FHOD3):c.3851C>T (p.Ala1284Val)	FHOD3 (A1092V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3068579	NM_001281740.3(FHOD3):c.2561_2566del (p.Ala854_Gly855del)	FHOD3	Deletion (inframe_deletion)	Cardiomyopathy, familial hypertrophic, 28 +1 more	GBenign/Likely benign
Select item 3067423	NM_001281740.3(FHOD3):c.2926T>C (p.Ser976Pro)	FHOD3 (S784P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067422	NM_001281740.3(FHOD3):c.2022-4T>A	FHOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067377	NM_001281740.3(FHOD3):c.197A>G (p.Asn66Ser)	FHOD3 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065960	NM_001281740.3(FHOD3):c.4787-1G>A	FHOD3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy, familial hypertrophic, 28	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3062011	NM_001281740.3(FHOD3):c.1066G>A (p.Gly356Ser)	FHOD3 (G356S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3061397	NM_001281740.3(FHOD3):c.1659T>C (p.Ser553=)	FHOD3	Single nucleotide variant (synonymous variant +1 more)	FHOD3-related disorder	GUncertain significance
Select item 3057227	NM_001281740.3(FHOD3):c.3066T>C (p.Pro1022=)	FHOD3	Single nucleotide variant (synonymous variant)	FHOD3-related disorder	GLikely benign
Select item 3053961	NM_001281740.3(FHOD3):c.1172A>G (p.Asn391Ser)	FHOD3 (N391S)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GUncertain significance
Select item 3048680	NM_001281740.3(FHOD3):c.1489C>T (p.Arg497Trp)	FHOD3 (R497W)	Single nucleotide variant (missense variant +1 more)	FHOD3-related disorder	GLikely benign
Select item 3046128	NM_001281740.3(FHOD3):c.2260G>A (p.Glu754Lys)	FHOD3 (E562K +2 more)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GLikely benign
Select item 3045092	NM_001281740.3(FHOD3):c.1243G>A (p.Glu415Lys)	FHOD3 (E415K)	Single nucleotide variant (missense variant +1 more)	FHOD3-related disorder	GLikely benign
Select item 3041768	NM_001281740.3(FHOD3):c.3063A>C (p.Pro1021=)	FHOD3	Single nucleotide variant (synonymous variant)	FHOD3-related disorder	GLikely benign
Select item 3037693	NM_001281740.3(FHOD3):c.3066T>A (p.Pro1022=)	FHOD3	Single nucleotide variant (synonymous variant)	FHOD3-related disorder	GLikely benign
Select item 3037044	NM_001281740.3(FHOD3):c.1248A>G (p.Glu416=)	FHOD3	Single nucleotide variant (synonymous variant +1 more)	FHOD3-related disorder	GLikely benign
Select item 3032863	NM_001281740.3(FHOD3):c.336C>A (p.Ile112=)	FHOD3	Single nucleotide variant (synonymous variant)	FHOD3-related disorder	GLikely benign
Select item 3024547	NM_001281740.3(FHOD3):c.2890G>T (p.Val964Phe)	FHOD3 (V772F +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2798129	NM_001281740.3(FHOD3):c.1970+26del	FHOD3	Deletion (intron variant)	not provided	GBenign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2672723	NM_001281740.3(FHOD3):c.4479G>A (p.Ala1493=)	FHOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2665093	NM_001281740.3(FHOD3):c.928G>A (p.Asp310Asn)	FHOD3 (D310N)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2665092	NM_001281740.3(FHOD3):c.1912C>T (p.Arg638Trp)	FHOD3 (R463W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2663200	NM_001281740.3(FHOD3):c.3760-2A>C	FHOD3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2648680	NM_001281740.3(FHOD3):c.3999C>T (p.Ser1333=)	FHOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648679	NM_001281740.3(FHOD3):c.1739A>G (p.Asn580Ser)	FHOD3 (N405S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648678	NM_001281740.3(FHOD3):c.1383A>G (p.Gly461=)	FHOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648677	NM_001281740.3(FHOD3):c.958-4C>T	FHOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648676	NM_001281740.3(FHOD3):c.673G>A (p.Ala225Thr)	FHOD3 (A225T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634622	NM_001281740.3(FHOD3):c.3727G>A (p.Ala1243Thr)	FHOD3 (A1051T +2 more)	Single nucleotide variant (missense variant)	FHOD3-related disorder +1 more	GUncertain significance
Select item 2631940	NM_001281740.3(FHOD3):c.2800C>G (p.Arg934Gly)	FHOD3 (R742G +2 more)	Single nucleotide variant (missense variant)	FHOD3-related disorder +1 more	GUncertain significance
Select item 2630984	NM_001281740.3(FHOD3):c.235C>T (p.Gln79Ter)	FHOD3 (Q79*)	Single nucleotide variant (nonsense)	FHOD3-related disorder	GUncertain significance
Select item 2629302	NM_001281740.3(FHOD3):c.739A>G (p.Ile247Val)	FHOD3 (I247V)	Single nucleotide variant (missense variant)	FHOD3-related disorder	GUncertain significance

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