"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYHAS"[ge - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	LOC126862493, MYH8 +1 more (V1822I)	Single nucleotide variant (missense variant)	Hecht syndrome +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 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 129679	NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 3047403	NM_002472.3(MYH8):c.4962+7G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	MYH8-related disorder	GLikely benign
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 258720	NM_002472.3(MYH8):c.4379A>G (p.Lys1460Arg)	MYH8, MYHAS (K1460R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3045688	NM_002472.3(MYH8):c.4353C>T (p.Asn1451=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 129677	NM_002472.3(MYH8):c.4233C>T (p.Asn1411=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 887563	NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val)	MYH8, MYHAS (I1383V)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GConflicting classifications of pathogenicity
Select item 211564	NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)	MYH8, MYHAS (E1348K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129675	NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)	MYH8, MYHAS (M1229T)	Single nucleotide variant (missense variant)	Hecht syndrome +4 more	GBenign/Likely benign
Select item 211563	NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)	LOC126862494, MYH8 +1 more (R1178C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129674	NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129673	NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258719	NM_002472.3(MYH8):c.3108+20C>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2630478	NM_002472.3(MYH8):c.2998_2999delinsGC (p.Lys1000Ala)	LOC126862494, MYH8 +1 more (K1000A)	Indel (missense variant)	MYH8-related disorder	GUncertain significance
Select item 258718	NM_002472.3(MYH8):c.2652A>G (p.Leu884=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 258717	NM_002472.3(MYH8):c.2274A>G (p.Gln758=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 252606	NM_002472.3(MYH8):c.2147T>A (p.Ile716Asn)	MYH8, MYHAS (I716N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 321643	NM_002472.3(MYH8):c.2117G>A (p.Arg706His)	MYH8, MYHAS (R706H)	Single nucleotide variant (missense variant)	MYH8-related disorder +1 more	GBenign/Likely benign
Select item 2634458	NM_002472.3(MYH8):c.2020C>T (p.Arg674Trp)	MYH8, MYHAS (R674W)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 129672	NM_002472.3(MYH8):c.2016C>T (p.Phe672=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129671	NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)	MYH8, MYHAS (A636V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3031986	NM_002472.3(MYH8):c.1659C>A (p.Asn553Lys)	MYH8, MYHAS (N553K)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 775109	NM_002472.3(MYH8):c.1632T>C (p.Pro544=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Carney complex - trismus - pseudocamptodactyly syndrome +3 more	GBenign/Likely benign
Select item 2635738	NM_002472.3(MYH8):c.1580T>C (p.Ile527Thr)	MYH8, MYHAS (I527T)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 736252	NM_002472.3(MYH8):c.954G>C (p.Gln318His)	MYH8, MYHAS (Q318H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129680	NM_002472.3(MYH8):c.714T>C (p.Thr238=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 783772	NM_002472.3(MYH8):c.430G>C (p.Ala144Pro)	MYH8, MYHAS (A144P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3051541	NM_002472.3(MYH8):c.417C>T (p.Pro139=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3036906	NM_002472.3(MYH8):c.405G>T (p.Pro135=)	MYHAS, MYH8	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3030987	NM_002472.3(MYH8):c.355-9T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	MYH8-related disorder	GLikely benign
Select item 2252148	NM_002472.3(MYH8):c.320A>G (p.Asn107Ser)	MYH8, MYHAS (N107S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 887681	NM_002472.3(MYH8):c.304C>G (p.Pro102Ala)	MYH8, MYHAS (P102A)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GConflicting classifications of pathogenicity
Select item 258716	NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)	MYH8, MYHAS (R75S)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GBenign
Select item 783773	NM_002472.3(MYH8):c.143C>T (p.Ser48Phe)	MYH8, MYHAS (S48F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2647477	NM_005963.4(MYH1):c.868dup (p.Tyr290fs)	MYH1, MYHAS (Y290fs)	Duplication (frameshift variant)	MYH1-related disorder +1 more	GLikely benign
Select item 3036126	NM_017534.6(MYH2):c.5805A>T (p.Thr1935=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	MYH2-related disorder	GLikely benign
Select item 197420	NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)	MYH2, MYHAS (R1927Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GBenign/Likely benign
Select item 851415	NM_017534.6(MYH2):c.5641G>A (p.Val1881Met)	MYHAS, MYH2 (V1881M)	Single nucleotide variant (missense variant)	MYH2-related disorder +2 more	GUncertain significance
Select item 2632822	NM_017534.6(MYH2):c.5607G>T (p.Arg1869Ser)	MYH2, MYHAS (R1869S)	Single nucleotide variant (missense variant)	MYH2-related disorder	GUncertain significance
Select item 2630452	NM_017534.6(MYH2):c.5579C>A (p.Thr1860Lys)	MYH2, MYHAS (T1860K)	Single nucleotide variant (missense variant)	MYH2-related disorder	GUncertain significance
Select item 1132483	NM_017534.6(MYH2):c.5577+7C>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	MYH2-related disorder +1 more	GLikely benign
Select item 260827	NM_017534.6(MYH2):c.5472+33G>T	MYHAS, MYH2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2633810	NM_017534.6(MYH2):c.5464G>A (p.Glu1822Lys)	MYH2, MYHAS (E1822K)	Single nucleotide variant (missense variant)	MYH2-related disorder	GUncertain significance
Select item 2629684	NM_017534.6(MYH2):c.5332del (p.Glu1778fs)	MYH2, MYHAS (E1778fs)	Deletion (frameshift variant)	MYH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3047454	NM_017534.6(MYH2):c.5302-7T>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	MYH2-related disorder	GLikely benign
Select item 3029059	NM_017534.6(MYH2):c.5301+8G>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	MYH2-related disorder	GLikely benign
Select item 208780	NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)	MYH2, MYHAS (A1761V)	Single nucleotide variant (missense variant)	MYH2-related disorder +3 more	GUncertain significance
Select item 1026420	NM_017534.6(MYH2):c.5153G>A (p.Arg1718His)	MYH2, MYHAS (R1718H)	Single nucleotide variant (missense variant)	MYH2-related disorder +1 more	GUncertain significance
Select item 260826	NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260825	NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)	LOC126862500, MYH2 +1 more (L1592M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 732100	NM_017534.6(MYH2):c.4770C>T (p.Asp1590=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GLikely benign
Select item 576776	NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)	LOC126862500, MYH2 +1 more (Q1513*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
Select item 3050533	NM_017534.6(MYH2):c.4410T>C (p.His1470=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	MYH2-related disorder	GLikely benign
Select item 283217	NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)	LOC126862500, MYHAS +1 more (A1460G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GLikely benign
Select item 465941	NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 771636	NM_017534.6(MYH2):c.4007C>A (p.Ala1336Glu)	MYH2, MYHAS (A1336E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GBenign/Likely benign
Select item 1003333	NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys)	MYH2, MYHAS (Q1316K)	Single nucleotide variant (missense variant)	MYH2-related disorder +1 more	GUncertain significance
Select item 534363	NM_017534.6(MYH2):c.3582A>G (p.Thr1194=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 654356	NM_017534.6(MYH2):c.3459C>T (p.Ser1153=)	MYHAS, MYH2	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GLikely benign
Select item 196035	NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 3044303	NM_017534.6(MYH2):c.3355-4C>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	MYH2-related disorder	GLikely benign
Select item 260823	NM_017534.6(MYH2):c.3354+24C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3056172	NM_017534.6(MYH2):c.3263+11_3263+15delinsG	MYH2, MYHAS	Indel (intron variant)	MYH2-related disorder	GLikely benign
Select item 260822	NM_017534.6(MYH2):c.3263+15A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 195897	NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)	MYH2, MYHAS (L1061V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GConflicting classifications of pathogenicity
Select item 195898	NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)	MYH2, MYHAS (S1043A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260820	NM_017534.6(MYH2):c.3117+32C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260819	NM_017534.6(MYH2):c.3048G>A (p.Leu1016=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 656701	NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn)	MYH2, MYHAS (T999N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 260818	NM_017534.6(MYH2):c.2697+25A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 739497	NM_017534.6(MYH2):c.2364C>T (p.Ala788=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	MYH2-related disorder +1 more	GLikely benign
Select item 195517	NM_017534.6(MYH2):c.2304+7T>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 733029	NM_017534.6(MYH2):c.2286T>C (p.Tyr762=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GLikely benign
Select item 291167	NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	MYH2, MYHAS (I757T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194975	NM_017534.6(MYH2):c.2106C>T (p.Asn702=)	MYHAS, MYH2	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 260817	NM_017534.6(MYH2):c.2062+22G>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260816	NM_017534.6(MYH2):c.1975-9G>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260815	NM_017534.6(MYH2):c.1975-47A>G	MYHAS, MYH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 884792	NM_017534.6(MYH2):c.1913G>A (p.Gly638Glu)	MYH2, MYHAS (G638E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 260814	NM_017534.6(MYH2):c.1898-3C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 499533	NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)	MYHAS, MYH2 (E598K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 260813	NM_017534.6(MYH2):c.1416+40G>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1545199	NM_017534.6(MYH2):c.1305C>T (p.Tyr435=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GLikely benign
Select item 2635759	NM_017534.6(MYH2):c.1266+7G>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 321692	NM_017534.6(MYH2):c.1227C>T (p.Val409=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 260829	NM_017534.6(MYH2):c.904+10G>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260828	NM_017534.6(MYH2):c.742-30A>C	MYHAS, LOC126862501 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 704285	NM_017534.6(MYH2):c.705C>T (p.Asn235=)	LOC126862501, MYH2 +1 more	Single nucleotide variant (synonymous variant)	MYH2-related disorder +1 more	GLikely benign
Select item 465951	NM_017534.6(MYH2):c.687A>G (p.Leu229=)	LOC126862501, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 183667	NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)	MYHAS, LOC126862501 +1 more (T178I)	Single nucleotide variant (missense variant)	MYH2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 260824	NM_017534.6(MYH2):c.399T>A (p.Pro133=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +3 more	GBenign
Select item 260821	NM_017534.6(MYH2):c.324A>G (p.Glu108=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3054722	NM_017534.6(MYH2):c.300T>C (p.Pro100=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	MYH2-related disorder	GLikely benign

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Items: 100