7574[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1098572	GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3	GAS7, LOC112529894 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150569	GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3	GAS7, LOC112529894 +12 more	Copy number gain	See cases	GUncertain significance
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147857	GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3	GAS7, LOC112529894 +13 more	Copy number gain	See cases	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 2532936	NM_017533.2(MYH4):c.5810G>A (p.Ser1937Asn)	MYH4, MYHAS (S1937N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158073	NM_017533.2(MYH4):c.5807T>G (p.Ile1936Arg)	MYH4, MYHAS (I1936R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279705	NM_017533.2(MYH4):c.5804T>C (p.Val1935Ala)	MYH4, MYHAS (V1935A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269557	NM_017533.2(MYH4):c.5773A>G (p.Arg1925Gly)	MYH4, MYHAS (R1925G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372369	NM_017533.2(MYH4):c.5738G>A (p.Arg1913Gln)	MYH4, MYHAS (R1913Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309992	NM_017533.2(MYH4):c.5701C>T (p.Arg1901Cys)	MYH4, MYHAS (R1901C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274268	NM_017533.2(MYH4):c.5681A>T (p.Asn1894Ile)	MYH4, MYHAS (N1894I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306798	NM_017533.2(MYH4):c.5645A>C (p.Tyr1882Ser)	MYH4, MYHAS (Y1882S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252488	NM_017533.2(MYH4):c.5600G>A (p.Arg1867Lys)	MYH4, MYHAS (R1867K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297456	NM_017533.2(MYH4):c.5534G>A (p.Arg1845His)	MYH4, MYHAS (R1845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158054	NM_017533.2(MYH4):c.5423C>T (p.Ala1808Val)	MYH4, MYHAS (A1808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225242	NM_017533.2(MYH4):c.5405A>G (p.Asp1802Gly)	MYH4, MYHAS (D1802G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3158051	NM_017533.2(MYH4):c.5399G>A (p.Arg1800His)	MYH4, MYHAS (R1800H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724790	NM_017533.2(MYH4):c.5384A>C (p.Lys1795Thr)	MYH4, MYHAS (K1795T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3158046	NM_017533.2(MYH4):c.5357T>C (p.Met1786Thr)	MYH4, MYHAS (M1786T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158043	NM_017533.2(MYH4):c.5258G>T (p.Arg1753Leu)	MYH4, MYHAS (R1753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158034	NM_017533.2(MYH4):c.5257C>A (p.Arg1753Ser)	MYH4, MYHAS (R1753S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283855	NM_017533.2(MYH4):c.5257C>T (p.Arg1753Cys)	MYH4, MYHAS (R1753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276573	NM_017533.2(MYH4):c.5245G>T (p.Val1749Phe)	MYH4, MYHAS (V1749F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158029	NM_017533.2(MYH4):c.5159T>C (p.Leu1720Pro)	LOC126862495, MYH4 +1 more (L1720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158026	NM_017533.2(MYH4):c.5146C>T (p.Arg1716Cys)	LOC126862495, MYH4 +1 more (R1716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595341	NM_017533.2(MYH4):c.5102G>A (p.Arg1701Lys)	LOC126862495, MYH4 +1 more (R1701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362177	NM_017533.2(MYH4):c.5092C>T (p.Arg1698Trp)	LOC126862495, MYH4 +1 more (R1698W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158020	NM_017533.2(MYH4):c.5053A>C (p.Met1685Leu)	LOC126862495, MYH4 +1 more (M1685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512877	NM_017533.2(MYH4):c.4991C>T (p.Ala1664Val)	LOC126862495, MYH4 +1 more (A1664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468844	NM_017533.2(MYH4):c.4963A>C (p.Lys1655Gln)	LOC126862495, MYH4 +1 more (K1655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344020	NM_017533.2(MYH4):c.4921G>A (p.Ala1641Thr)	LOC126862495, MYH4 +1 more (A1641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91994	NM_017533.2(MYH4):c.4849A>G (p.Arg1617Gly)	LOC126862495, MYH4 +1 more (R1617G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781257	NM_017533.2(MYH4):c.4808G>A (p.Ser1603Asn)	LOC126862495, MYH4 +1 more (S1603N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331826	NM_017533.2(MYH4):c.4803G>A (p.Met1601Ile)	LOC126862495, MYH4 +1 more (M1601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556175	NM_017533.2(MYH4):c.4797G>C (p.Glu1599Asp)	LOC126862495, MYH4 +1 more (E1599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247199	NM_017533.2(MYH4):c.4764T>A (p.Asp1588Glu)	LOC126862495, MYH4 +1 more (D1588E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520504	NM_017533.2(MYH4):c.4733G>A (p.Arg1578Gln)	MYH4, MYHAS (R1578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297453	NM_017533.2(MYH4):c.4690C>T (p.Arg1564Cys)	MYH4, MYHAS (R1564C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383209	NM_017533.2(MYH4):c.4646A>C (p.Glu1549Ala)	MYH4, MYHAS (E1549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552896	NM_017533.2(MYH4):c.4586A>T (p.Glu1529Val)	MYH4, MYHAS (E1529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223884	NM_017533.2(MYH4):c.4573A>G (p.Lys1525Glu)	MYH4, MYHAS (K1525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223535	NM_017533.2(MYH4):c.4550C>A (p.Thr1517Lys)	MYH4, MYHAS (T1517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357501	NM_017533.2(MYH4):c.4511G>A (p.Arg1504Gln)	MYH4, MYHAS (R1504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298789	NM_017533.2(MYH4):c.4504C>G (p.Leu1502Val)	MYH4, MYHAS (L1502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476513	NM_017533.2(MYH4):c.4458C>G (p.Phe1486Leu)	MYH4, MYHAS (F1486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352805	NM_017533.2(MYH4):c.4334C>G (p.Ala1445Gly)	MYH4, MYHAS (A1445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606951	NM_017533.2(MYH4):c.4328G>T (p.Cys1443Phe)	MYH4, MYHAS (C1443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157992	NM_017533.2(MYH4):c.4193C>T (p.Ala1398Val)	MYH4, MYHAS (A1398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781347	NM_017533.2(MYH4):c.4161A>G (p.Thr1387=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2681420	NM_017533.2(MYH4):c.4152C>A (p.Ile1384=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3297461	NM_017533.2(MYH4):c.4118C>A (p.Ala1373Asp)	MYH4, MYHAS (A1373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157982	NM_017533.2(MYH4):c.4043G>A (p.Arg1348Gln)	LOC126862496, MYH4 +1 more (R1348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482106	NM_017533.2(MYH4):c.3959A>G (p.Lys1320Arg)	LOC126862496, MYH4 +1 more (K1320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157976	NM_017533.2(MYH4):c.3944A>C (p.Gln1315Pro)	LOC126862496, MYH4 +1 more (Q1315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157972	NM_017533.2(MYH4):c.3934T>C (p.Phe1312Leu)	LOC126862496, MYH4 +1 more (F1312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724160	NM_017533.2(MYH4):c.3931G>A (p.Ala1311Thr)	MYHAS, LOC126862496 +1 more (A1311T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2524431	NM_017533.2(MYH4):c.3835G>A (p.Ala1279Thr)	LOC126862496, MYH4 +1 more (A1279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773066	NM_017533.2(MYH4):c.3781A>C (p.Ser1261Arg)	LOC126862496, MYH4 +1 more (S1261R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3157966	NM_017533.2(MYH4):c.3678T>G (p.Ser1226Arg)	MYH4, MYHAS (S1226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318966	NM_017533.2(MYH4):c.3659A>G (p.Lys1220Arg)	MYH4, MYHAS (K1220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468424	NM_017533.2(MYH4):c.3637A>G (p.Ser1213Gly)	MYH4, MYHAS (S1213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282334	NM_017533.2(MYH4):c.3619C>T (p.Leu1207Phe)	MYH4, MYHAS (L1207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238582	NM_017533.2(MYH4):c.3600C>A (p.His1200Gln)	MYH4, MYHAS (H1200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233792	NM_017533.2(MYH4):c.3583G>C (p.Ala1195Pro)	MYH4, MYHAS (A1195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217319	NM_017533.2(MYH4):c.3575C>T (p.Thr1192Met)	MYH4, MYHAS (T1192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540587	NM_017533.2(MYH4):c.3547G>A (p.Glu1183Lys)	MYH4, MYHAS (E1183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264360	NM_017533.2(MYH4):c.3512G>C (p.Arg1171Pro)	MYH4, MYHAS (R1171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508990	NM_017533.2(MYH4):c.3507G>C (p.Lys1169Asn)	MYH4, MYHAS (K1169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521416	NM_017533.2(MYH4):c.3494T>C (p.Ile1165Thr)	MYH4, MYHAS (I1165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218256	NM_017533.2(MYH4):c.3472G>A (p.Gly1158Ser)	MYH4, MYHAS (G1158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214723	NM_017533.2(MYH4):c.3434G>A (p.Arg1145Gln)	MYH4, MYHAS (R1145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259255	NM_017533.2(MYH4):c.3418C>T (p.Arg1140Cys)	MYH4, MYHAS (R1140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223193	NM_017533.2(MYH4):c.3398G>A (p.Arg1133Gln)	MYH4, MYHAS (R1133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397748	NM_017533.2(MYH4):c.3370G>A (p.Glu1124Lys)	MYH4, MYHAS (E1124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157925	NM_017533.2(MYH4):c.3313G>A (p.Ala1105Thr)	MYH4, MYHAS (A1105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480487	NM_017533.2(MYH4):c.3307G>C (p.Ala1103Pro)	MYH4, MYHAS (A1103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297452	NM_017533.2(MYH4):c.3229A>C (p.Lys1077Gln)	MYH4, MYHAS (K1077Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294631	NM_017533.2(MYH4):c.3161G>A (p.Arg1054Lys)	MYH4, MYHAS (R1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268757	NM_017533.2(MYH4):c.3134A>C (p.Glu1045Ala)	MYH4, MYHAS (E1045A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157910	NM_017533.2(MYH4):c.3080C>T (p.Ala1027Val)	MYH4, MYHAS (A1027V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459594	NM_017533.2(MYH4):c.3048G>A (p.Met1016Ile)	MYH4, MYHAS (M1016I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157905	NM_017533.2(MYH4):c.3003G>C (p.Lys1001Asn)	MYH4, MYHAS (K1001N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250765	NM_017533.2(MYH4):c.2999A>C (p.Lys1000Thr)	MYH4, MYHAS (K1000T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297463	NM_017533.2(MYH4):c.2947A>G (p.Thr983Ala)	MYH4, MYHAS (T983A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647474	NM_017533.2(MYH4):c.2937G>T (p.Val979=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3157901	NM_017533.2(MYH4):c.2924C>T (p.Thr975Ile)	MYH4, MYHAS (T975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790715	NM_017533.2(MYH4):c.2922C>T (p.Ala974=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157898	NM_017533.2(MYH4):c.2875G>A (p.Asp959Asn)	MYH4, MYHAS (D959N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349795	NM_017533.2(MYH4):c.2851T>A (p.Cys951Ser)	MYHAS, MYH4 (C951S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246764	NM_017533.2(MYH4):c.2716G>A (p.Glu906Lys)	MYH4, MYHAS (E906K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338957	NM_017533.2(MYH4):c.2705T>C (p.Leu902Ser)	MYHAS, MYH4 (L902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157883	NM_017533.2(MYH4):c.2701G>A (p.Ala901Thr)	MYH4, MYHAS (A901T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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