"GeneDx"[submitter] AND "MYH8"[gene] - ClinVar

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Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 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 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)	Hecht syndrome +1 more	GLikely benign
Select item 321620	NM_002472.3(MYH8):c.*72T>C	MYH8, MYHAS	Single nucleotide variant (3 prime UTR variant)	Hecht syndrome +1 more	GLikely benign
Select item 1178307	NM_002472.3(MYH8):c.5664+223C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
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 445512	NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)	LOC126862493, MYH8 +1 more (E1838A)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
Select item 258722	NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)	MYHAS, LOC126862493 +1 more (V1822I)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
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)	Hecht syndrome +2 more	GBenign
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 2497978	NM_002472.3(MYH8):c.5140G>A (p.Glu1714Lys)	MYH8, MYHAS (E1714K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129678	NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)	MYH8, MYHAS (W1692R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 1201662	NM_002472.3(MYH8):c.4649C>G (p.Ala1550Gly)	MYH8, MYHAS (A1550G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720389	NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)	MYH8, MYHAS (T1500M)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign/Likely benign
Select item 2502495	NM_002472.3(MYH8):c.4253A>C (p.Glu1418Ala)	MYH8, MYHAS (E1418A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129677	NM_002472.3(MYH8):c.4233C>T (p.Asn1411=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign/Likely benign
Select item 1191709	NM_002472.3(MYH8):c.4179-137C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706770	NM_002472.3(MYH8):c.4179-194C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182036	NM_002472.3(MYH8):c.4179-309A>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197896	NM_002472.3(MYH8):c.4178+120dup	MYH8, MYHAS	Duplication (intron variant)	not provided	GLikely benign
Select item 211564	NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)	MYH8, MYHAS (E1348K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1214766	NM_002472.3(MYH8):c.3863-108CA[6]	MYH8, MYHAS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1225420	NM_002472.3(MYH8):c.3862+276CA[11]	MYH8, MYHAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1223943	NM_002472.3(MYH8):c.3862+276CA[12]	MYH8, MYHAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1218213	NM_002472.3(MYH8):c.3862+276CA[10]	MYH8, MYHAS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1221468	NM_002472.3(MYH8):c.3862+174C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504789	NM_002472.3(MYH8):c.3790A>G (p.Thr1264Ala)	MYH8, MYHAS (T1264A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129676	NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys)	MYH8, MYHAS (R1253C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1281021	NM_002472.3(MYH8):c.3736-158C>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327829	NM_002472.3(MYH8):c.3736-263C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129675	NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)	MYH8, MYHAS (M1229T)	Single nucleotide variant (missense variant)	Hecht syndrome +3 more	GBenign/Likely benign
Select item 710105	NM_002472.3(MYH8):c.3513G>A (p.Glu1171=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3343149	NM_002472.3(MYH8):c.3364G>C (p.Gly1122Arg)	LOC126862494, MYH8 +1 more (G1122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283964	NM_002472.3(MYH8):c.3345+36A>G	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129674	NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 129673	NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	MYHAS, LOC126862494 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 1272778	NM_002472.3(MYH8):c.2433-165GT[11]	MYH8, MYHAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1325981	NM_002472.3(MYH8):c.2433-167_2433-166insCGTGTG	MYH8, MYHAS	Insertion (intron variant)	not provided	GLikely benign
Select item 1282012	NM_002472.3(MYH8):c.2433-167_2433-166insCGTG	MYH8, MYHAS	Insertion (intron variant)	not provided	GBenign
Select item 1267685	NM_002472.3(MYH8):c.2433-167_2433-166insCG	MYH8, MYHAS	Insertion (intron variant)	not provided	GBenign
Select item 1242012	NM_002472.3(MYH8):c.2433-166T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265290	NM_002472.3(MYH8):c.2433-182C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451725	NM_002472.3(MYH8):c.2234C>T (p.Ser745Phe)	MYHAS, MYH8 (S745F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309298	NM_002472.3(MYH8):c.2230G>A (p.Ala744Thr)	MYH8, MYHAS (A744T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181847	NM_002472.3(MYH8):c.2171+82T>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227085	NM_002472.3(MYH8):c.2171+45G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14136	NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)	MYH8, MYHAS (R674Q)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GPathogenic
Select item 129672	NM_002472.3(MYH8):c.2016C>T (p.Phe672=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 3366247	NM_002472.3(MYH8):c.1996A>T (p.Arg666Trp)	MYH8, MYHAS (R666W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129671	NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)	MYHAS, MYH8 (A636V)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GBenign
Select item 3369575	NM_002472.3(MYH8):c.1759G>A (p.Gly587Ser)	MYH8, MYHAS (G587S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129670	NM_002472.3(MYH8):c.1701G>A (p.Gln567=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +1 more	GBenign
Select item 1224622	NM_002472.3(MYH8):c.1536G>C (p.Thr512=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181307	NM_002472.3(MYH8):c.1417-111C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256766	NM_002472.3(MYH8):c.1417-131G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242075	NM_002472.3(MYH8):c.1417-220C>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327778	NM_002472.3(MYH8):c.1416+215G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275530	NM_002472.3(MYH8):c.1416+131C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277987	NM_002472.3(MYH8):c.1148-230G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286655	NM_002472.3(MYH8):c.1148-234A>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291660	NM_002472.3(MYH8):c.1148-235C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327875	NM_002472.3(MYH8):c.1147+147C>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248523	NM_002472.3(MYH8):c.1147+94C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192172	NM_002472.3(MYH8):c.1147+15T>G	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236083	NM_002472.3(MYH8):c.806-30T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179638	NM_002472.3(MYH8):c.806-41T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227475	NM_002472.3(MYH8):c.806-139T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129680	NM_002472.3(MYH8):c.714T>C (p.Thr238=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 887498	NM_002472.3(MYH8):c.676G>A (p.Ala226Thr)	MYH8, MYHAS (A226T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1722946	NM_002472.3(MYH8):c.629A>G (p.Asp210Gly)	MYH8, MYHAS (D210G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 321655	NM_002472.3(MYH8):c.578G>A (p.Arg193His)	MYHAS, MYH8 (R193H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1224192	NM_002472.3(MYH8):c.512-123T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783772	NM_002472.3(MYH8):c.430G>C (p.Ala144Pro)	MYH8, MYHAS (A144P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3365589	NM_002472.3(MYH8):c.372C>G (p.Phe124Leu)	MYH8, MYHAS (F124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2252148	NM_002472.3(MYH8):c.320A>G (p.Asn107Ser)	MYH8, MYHAS (N107S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 258716	NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)	MYH8, MYHAS (R75S)	Single nucleotide variant (missense variant)	Hecht syndrome +1 more	GBenign
Select item 1199453	NM_002472.3(MYH8):c.211-218C>T	MYH8, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783773	NM_002472.3(MYH8):c.143C>T (p.Ser48Phe)	MYH8, MYHAS (S48F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884537	NM_002472.3(MYH8):c.59G>A (p.Arg20Gln)	MYHAS, MYH8 (R20Q)	Single nucleotide variant (missense variant)	Hecht syndrome +2 more	GUncertain significance
Select item 452066	NM_002472.3(MYH8):c.11G>A (p.Ser4Asn)	MYHAS, MYH8 (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683865	NM_002472.3(MYH8):c.-30-104G>C	MYHAS, MYH8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 92