MYHAS[gene] - 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	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +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 660152	NC_000017.11:g.(?_10330387)_(10395441_?)del	MYH8, MYHAS +2 more	Deletion	not provided	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 1328652	NC_000017.11:g.10390312del	MYH8, MYHAS	Deletion	not provided	GLikely benign
Select item 321619	NM_002472.3(MYH8):c.*76G>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 321620	NM_002472.3(MYH8):c.*72T>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 888564	NM_002472.3(MYH8):c.*33G>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 888565	NM_002472.3(MYH8):c.*19A>G	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	Hecht syndrome	GUncertain significance
Select item 597533	NM_002472.3(MYH8):c.5789T>G (p.Val1930Gly)	MYH8, MYHAS (V1930G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598988	NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)	MYHAS, MYH8 (I1915V)	Single nucleotide variant (missense variant)	Cognitive impairment +12 more	GUncertain significance
Select item 321621	NM_002472.3(MYH8):c.5736G>C (p.Arg1912=)	MYHAS, MYH8	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 2211839	NM_002472.3(MYH8):c.5728G>A (p.Glu1910Lys)	MYH8, MYHAS (E1910K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158995	NM_002472.3(MYH8):c.5699G>A (p.Arg1900His)	MYH8, MYHAS (R1900H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178307	NM_002472.3(MYH8):c.5664+223C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2477596	NM_002472.3(MYH8):c.5636A>T (p.Lys1879Ile)	MYH8, MYHAS (K1879I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547129	NM_002472.3(MYH8):c.5629A>G (p.Lys1877Glu)	MYH8, MYHAS (K1877E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 397641	NM_002472.3(MYH8):c.5623C>T (p.Gln1875Ter)	MYH8, MYHAS (Q1875*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2297716	NM_002472.3(MYH8):c.5587A>T (p.Asn1863Tyr)	LOC126862493, MYH8 +1 more (N1863Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328788	NM_002472.3(MYH8):c.5572G>C (p.Glu1858Gln)	LOC126862493, MYH8 +1 more (E1858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243083	NM_002472.3(MYH8):c.5569-203G>A	LOC126862493, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266347	NM_002472.3(MYH8):c.5568+239G>A	MYH8, MYHAS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284218	NM_002472.3(MYH8):c.5568+237del	LOC126862493, MYH8 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 884351	NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)	LOC126862493, MYH8 +1 more (R1848Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 321622	NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)	LOC126862493, MYH8 +1 more (E1847K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2485864	NM_002472.3(MYH8):c.5538T>A (p.His1846Gln)	LOC126862493, MYH8 +1 more (H1846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507960	NM_002472.3(MYH8):c.5531G>A (p.Arg1844Gln)	LOC126862493, MYH8 +1 more (R1844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445512	NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)	LOC126862493, MYH8 +1 more (E1838A)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GBenign/Likely benign
Select item 720755	NM_002472.3(MYH8):c.5508T>C (p.Asn1836=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 722469	NM_002472.3(MYH8):c.5504G>A (p.Arg1835His)	MYHAS, LOC126862493 +1 more (R1835H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 258723	NM_002472.3(MYH8):c.5484G>A (p.Glu1828=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 258722	NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)	MYH8, MYHAS +1 more (V1822I)	Single nucleotide variant (missense variant)	MYH8-related disorder +2 more	GBenign/Likely benign
Select item 258721	NM_002472.3(MYH8):c.5463+20T>C	LOC126862493, MYH8 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 785554	NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)	LOC126862493, MYH8 +1 more (A1820V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2380396	NM_002472.3(MYH8):c.5442G>C (p.Gln1814His)	LOC126862493, MYH8 +1 more (Q1814H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 321623	NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)	MYH8, MYHAS +1 more (K1812R)	Single nucleotide variant (missense variant)	Hecht syndrome	GLikely benign
Select item 708149	NM_002472.3(MYH8):c.5421G>A (p.Ala1807=)	MYH8, MYHAS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733704	NM_002472.3(MYH8):c.5376G>A (p.Thr1792=)	LOC126862493, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546789	NM_002472.3(MYH8):c.5350C>T (p.Arg1784Trp)	LOC126862493, MYH8 +1 more (R1784W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211567	NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)	LOC126862493, MYH8 +1 more (R1784G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 872643	NM_002472.3(MYH8):c.5323G>A (p.Glu1775Lys)	LOC126862493, MYH8 +1 more (E1775K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158963	NM_002472.3(MYH8):c.5296G>T (p.Ala1766Ser)	LOC126862493, MYH8 +1 more (A1766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 397649	NM_002472.3(MYH8):c.5293-1G>A	LOC126862493, MYH8 +1 more	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 2234856	NM_002472.3(MYH8):c.5281G>A (p.Ala1761Thr)	LOC126862493, MYH8 +1 more (A1761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129679	NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 886370	NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu)	MYH8, MYHAS (K1732E)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 1218292	NM_002472.3(MYH8):c.5166+229_5166+230dup	MYH8, MYHAS	Duplication (intron variant)	not provided	GLikely benign
Select item 1175578	NM_002472.3(MYH8):c.5166+229dup	MYH8, MYHAS	Duplication (intron variant)	not provided	GBenign
Select item 1277468	NM_002472.3(MYH8):c.5166+257del	MYH8, MYHAS	Deletion (intron variant)	not provided	GBenign
Select item 1192980	NM_002472.3(MYH8):c.5166+249_5166+257del	MYH8, MYHAS	Deletion (intron variant)	not provided	GLikely benign
Select item 1233454	NM_002472.3(MYH8):c.5166+179dup	MYH8, MYHAS	Duplication (intron variant)	not provided	GBenign
Select item 1287648	NM_002472.3(MYH8):c.5166+178G>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 321624	NM_002472.3(MYH8):c.5166+14A>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	Hecht syndrome	GUncertain significance
Select item 2497978	NM_002472.3(MYH8):c.5140G>A (p.Glu1714Lys)	MYH8, MYHAS (E1714K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886371	NM_002472.3(MYH8):c.5115C>T (p.Ala1705=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 716599	NM_002472.3(MYH8):c.5115C>A (p.Ala1705=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211566	NM_002472.3(MYH8):c.5113G>A (p.Ala1705Thr)	MYH8, MYHAS (A1705T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 886372	NM_002472.3(MYH8):c.5112C>A (p.Ile1704=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 2281309	NM_002472.3(MYH8):c.5086G>A (p.Glu1696Lys)	MYH8, MYHAS (E1696K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129678	NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)	MYH8, MYHAS (W1692R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2605844	NM_002472.3(MYH8):c.5064C>G (p.Ile1688Met)	MYH8, MYHAS (I1688M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739198	NM_002472.3(MYH8):c.5028T>A (p.Ile1676=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 886373	NM_002472.3(MYH8):c.5025A>G (p.Ala1675=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321625	NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln)	MYH8, MYHAS (R1665Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 1238457	NM_002472.3(MYH8):c.4962+149A>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327724	NM_002472.3(MYH8):c.4962+137T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750965	NM_002472.3(MYH8):c.4962+10T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047403	NM_002472.3(MYH8):c.4962+7G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	MYH8-related disorder	GLikely benign
Select item 321626	NM_002472.3(MYH8):c.4910G>A (p.Arg1637His)	MYH8, MYHAS (R1637H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 887367	NM_002472.3(MYH8):c.4878T>C (p.Asn1626=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 397648	NM_002472.3(MYH8):c.4846A>T (p.Arg1616Ter)	MYHAS, MYH8 (R1616*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 769429	NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn)	MYH8, MYHAS (D1605N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2357057	NM_002472.3(MYH8):c.4808C>T (p.Thr1603Met)	MYH8, MYHAS (T1603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158935	NM_002472.3(MYH8):c.4789G>C (p.Val1597Leu)	MYH8, MYHAS (V1597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750351	NM_002472.3(MYH8):c.4786G>A (p.Val1596Ile)	MYH8, MYHAS (V1596I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 788748	NM_002472.3(MYH8):c.4784G>C (p.Arg1595Thr)	MYH8, MYHAS (R1595T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 321627	NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys)	MYH8, MYHAS (R1595K)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 2289535	NM_002472.3(MYH8):c.4750G>A (p.Glu1584Lys)	MYH8, MYHAS (E1584K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 211565	NM_002472.3(MYH8):c.4740A>C (p.Ala1580=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 321628	NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr)	MYH8, MYHAS (A1580T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 931773	NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala)	MYH8, MYHAS (V1575A)	Single nucleotide variant (missense variant)	Carney complex - trismus - pseudocamptodactyly syndrome	GUncertain significance
Select item 321629	NM_002472.3(MYH8):c.4692C>A (p.Ile1564=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome	GUncertain significance
Select item 321630	NM_002472.3(MYH8):c.4688G>A (p.Arg1563His)	MYH8, MYHAS (R1563H)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 1201662	NM_002472.3(MYH8):c.4649C>G (p.Ala1550Gly)	MYH8, MYHAS (A1550G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2287625	NM_002472.3(MYH8):c.4552C>A (p.Gln1518Lys)	MYH8, MYHAS (Q1518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049085	NM_002472.3(MYH8):c.4543C>A (p.Leu1515Ile)	MYH8, MYHAS (L1515I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435916	NM_002472.3(MYH8):c.4537del (p.Ser1513fs)	MYH8, MYHAS (S1513fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 720389	NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)	MYH8, MYHAS (T1500M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 397647	NM_002472.3(MYH8):c.4470del (p.Tyr1491fs)	MYH8, MYHAS (Y1491fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 321631	NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)	MYHAS, MYH8 (R1478H)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 258720	NM_002472.3(MYH8):c.4379A>G (p.Lys1460Arg)	MYH8, MYHAS (K1460R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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