"Revvity Omics, Revvity"[submitter] AND "MYHAS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433949	NM_002472.3(MYH8):c.3980A>C (p.Lys1327Thr)	MYH8, MYHAS (K1327T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433950	NM_002472.3(MYH8):c.3860C>T (p.Ala1287Val)	MYH8, MYHAS (A1287V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689502	NM_002472.3(MYH8):c.3803A>T (p.Glu1268Val)	MYH8, MYHAS (E1268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433947	NM_002472.3(MYH8):c.3101T>C (p.Val1034Ala)	LOC126862494, MYH8 +1 more (V1034A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14136	NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)	MYH8, MYHAS (R674Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 887682	NM_002472.3(MYH8):c.277A>G (p.Met93Val)	MYH8, MYHAS (M93V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 287307	NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636251	NM_017534.6(MYH2):c.5673+1G>C	MYHAS, MYH2	Single nucleotide variant (splice donor variant)	MYH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2433879	NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)	MYH2, MYHAS (E1890fs)	Duplication (frameshift variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433890	NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)	MYH2, MYHAS (R1852Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2689492	NM_017534.6(MYH2):c.5527G>C (p.Val1843Leu)	MYH2, MYHAS (V1843L)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433904	NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)	MYH2, MYHAS (R1838H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 654743	NM_017534.6(MYH2):c.5472+3G>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1046548	NM_017534.6(MYH2):c.5405G>A (p.Arg1802His)	MYH2, MYHAS (R1802H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 639702	NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala)	MYH2, MYHAS (E1793A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 1101001	NM_017534.6(MYH2):c.5355G>T (p.Leu1785=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 649904	NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr)	MYH2, MYHAS (A1769T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 208780	NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)	MYH2, MYHAS (A1761V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1000133	NM_017534.6(MYH2):c.5264G>A (p.Arg1755His)	MYH2, MYHAS (R1755H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1026420	NM_017534.6(MYH2):c.5153G>A (p.Arg1718His)	MYH2, MYHAS (R1718H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 445951	NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr)	LOC126862500, MYH2 +1 more (A1708T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962240	NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln)	LOC126862500, MYH2 +1 more (E1699Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433891	NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)	LOC126862500, MYH2 +1 more (R1695Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433898	NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)	LOC126862500, MYH2 +1 more (E1692K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433889	NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)	MYHAS, LOC126862500 +1 more (Q1676E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 499174	NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln)	LOC126862500, MYH2 +1 more (R1668Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1096639	NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)	LOC126862500, MYH2 +1 more (R1566C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity
Select item 465942	NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)	MYH2, MYHAS +1 more (R1528H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2594201	NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)	LOC126862500, MYH2 +1 more (E1524K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 1029470	NM_017534.6(MYH2):c.4537+1G>A	LOC126862500, MYH2 +1 more	Single nucleotide variant (splice donor variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
Select item 641606	NM_017534.6(MYH2):c.4442G>A (p.Arg1481His)	MYH2, LOC126862500 +1 more (R1481H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 534351	NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)	LOC126862500, MYH2 +1 more (L1459P)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433888	NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)	LOC126862500, MYH2 +1 more (N1454D)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 705415	NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)	MYH2, MYHAS (M1435T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 581871	NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys)	MYH2, MYHAS (E1421K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 659987	NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln)	MYH2, MYHAS (R1402Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 864425	NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val)	MYH2, MYHAS (A1400V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2441618	NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)	MYH2, MYHAS (E1394*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GLikely pathogenic
Select item 1512396	NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys)	MYH2, MYHAS (E1373K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421579	NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln)	MYH2, MYHAS (R1350Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 465938	NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser)	MYH2, MYHAS (A1334S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1497300	NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro)	MYH2, MYHAS (Q1317P)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 658428	NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)	MYH2, MYHAS (R1295H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 534347	NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)	MYH2, MYHAS (R1274Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433883	NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1443325	NM_017534.6(MYH2):c.3745-3T>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 566257	NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met)	MYH2, MYHAS (T1243M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321672	NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)	MYH2, MYHAS (L1237F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1018984	NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr)	MYH2, MYHAS (I1234T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 944662	NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)	MYH2, MYHAS (S1228N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 999146	NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln)	MYHAS, MYH2 (R1218Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1128162	NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity
Select item 465937	NM_017534.6(MYH2):c.3572A>G (p.His1191Arg)	MYH2, MYHAS (H1191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 287312	NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln)	MYH2, MYHAS (R1173Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 715141	NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 2433902	NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)	MYH2, MYHAS (A1159S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 617568	NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)	MYHAS, MYH2 (E1154K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity
Select item 582536	NM_017534.6(MYH2):c.3425G>A (p.Arg1142His)	MYHAS, MYH2 (R1142H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928092	NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)	MYH2, MYHAS (R1135Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 841548	NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp)	MYH2, MYHAS (R1135W)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1417276	NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln)	MYHAS, MYH2 (R1132Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433887	NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)	MYH2, MYHAS (A1057T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 465932	NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu)	MYH2, MYHAS (V1023L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481188	NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val)	MYH2, MYHAS (L1016V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1323305	NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter)	MYH2, MYHAS (E1007*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 2433895	NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)	MYH2, MYHAS (A1004D)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1009191	NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg)	MYH2, MYHAS (K1002R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 465931	NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp)	MYH2, MYHAS (E941D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 803321	NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)	MYH2, MYHAS (E936K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1051673	NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn)	MYH2, MYHAS (D934N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1478434	NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys)	MYH2, MYHAS (E902K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2195415	NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)	MYH2, MYHAS (E889G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 321682	NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)	MYH2, MYHAS (T885M)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +2 more	GUncertain significance
Select item 585068	NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)	MYH2, MYHAS (A870V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 195692	NM_017534.6(MYH2):c.2565G>A (p.Met855Ile)	MYH2, MYHAS (M855I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 1014863	NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)	MYHAS, MYH2 (A849V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2118855	NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)	MYH2, MYHAS (S848R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433881	NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)	MYH2, MYHAS (L846V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 945683	NM_017534.6(MYH2):c.2390G>T (p.Arg797Met)	MYH2, MYHAS (R797M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 291167	NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	MYH2, MYHAS (I757T)	Single nucleotide variant (missense variant)	MYH2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 465927	NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)	MYH2, MYHAS (D756N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity
Select item 995142	NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser)	MYH2, MYHAS (N682S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372425	NM_017534.6(MYH2):c.1975-1G>C	MYH2, MYHAS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
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 465924	NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser)	MYH2, MYHAS (A627S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433894	NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)	MYH2, MYHAS (K599R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 499533	NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)	MYH2, MYHAS (E598K)	Single nucleotide variant (missense variant)	MYH2-related disorder +2 more	GUncertain significance
Select item 648656	NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys)	MYH2, MYHAS (N592K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1372011	NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr)	MYH2, MYHAS (A581T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1158065	NM_017534.6(MYH2):c.1566C>T (p.Ala522=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity
Select item 2433882	NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)	MYH2, MYHAS (A522V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1054335	NM_017534.6(MYH2):c.1546T>G (p.Phe516Val)	MYH2, MYHAS (F516V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 661850	NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)	MYH2, MYHAS (T512M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2433901	NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)	MYH2, MYHAS (K506N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 857269	NM_017534.6(MYH2):c.1492G>A (p.Val498Met)	MYHAS, MYH2 (V498M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2433897	NM_017534.6(MYH2):c.1395T>C (p.Ile465=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 834381	NM_017534.6(MYH2):c.1334G>A (p.Arg445His)	MYH2, MYHAS (R445H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 944077	NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys)	MYH2, MYHAS (E436K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 856967	NM_017534.6(MYH2):c.1300G>A (p.Val434Ile)	MYH2, MYHAS (V434I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 576826	NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys)	MYH2, MYHAS (N425K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance

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