ClinVar for MedGen (Select 381340) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377692	NM_017534.6(MYH2):c.1410T>G (p.Ile470Met)	MYH2, MYHAS (I470M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3377394	NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)	MYH2, MYHAS (Q329*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 3377383	NM_017534.6(MYH2):c.2790G>C (p.Glu930Asp)	MYH2, MYHAS (E930D)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3376860	NM_017534.6(MYH2):c.1714G>A (p.Val572Ile)	MYH2, MYHAS (V572I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3341093	NM_017534.6(MYH2):c.3901G>T (p.Glu1301Ter)	MYH2, MYHAS (E1301*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 3243051	NC_000017.10:g.(?_10432459)_(10433411_?)dup	MYH2	Duplication	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3243050	NC_000017.10:g.(?_10424597)_(10441172_?)dup	MYH2	Duplication	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3243049	NC_000017.10:g.(?_10424597)_(10446498_?)del	MYH2	Deletion	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3022268	NM_017534.6(MYH2):c.2242T>G (p.Ser748Ala)	MYH2, MYHAS (S748A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3021088	NM_017534.6(MYH2):c.3136C>G (p.Gln1046Glu)	MYH2, MYHAS (Q1046E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3018392	NM_017534.6(MYH2):c.1624A>G (p.Met542Val)	MYH2, MYHAS (M542V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3017327	NM_017534.6(MYH2):c.5801A>C (p.His1934Pro)	MYH2, MYHAS (H1934P)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3016957	NM_017534.6(MYH2):c.4972-19A>G	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3016304	NM_017534.6(MYH2):c.1548C>T (p.Phe516=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 3015951	NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)	MYH2, MYHAS (M1435fs)	Insertion (frameshift variant)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 3014836	NM_017534.6(MYH2):c.2940+12A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 3013290	NM_017534.6(MYH2):c.4339G>A (p.Ala1447Thr)	MYH2, MYHAS (A1447T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3013257	NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)	LOC126862500, MYH2 +1 more (S1556C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3013209	NM_017534.6(MYH2):c.4227T>C (p.His1409=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 3012196	NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)	MYH2, MYHAS (Q740fs)	Deletion (frameshift variant)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 3009168	NM_017534.6(MYH2):c.2396G>A (p.Arg799Lys)	MYH2, MYHAS (R799K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 3006256	NM_017534.6(MYH2):c.3499A>T (p.Ile1167Phe)	MYH2, MYHAS (I1167F)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2999832	NM_017534.6(MYH2):c.2208C>T (p.Ile736=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2999713	NM_017534.6(MYH2):c.3264-10T>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2999147	NM_017534.6(MYH2):c.1008+4A>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2997299	NM_017534.6(MYH2):c.470C>T (p.Ser157Phe)	MYH2, MYHAS (S157F)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2995652	NM_017534.6(MYH2):c.5405G>T (p.Arg1802Leu)	MYH2, MYHAS (R1802L)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2995215	NM_017534.6(MYH2):c.5553G>A (p.Arg1851=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2994949	NM_017534.6(MYH2):c.741+17C>T	LOC126862501, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2993850	NM_017534.6(MYH2):c.4365C>T (p.Phe1455=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2990688	NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)	LOC126862501, MYH2 +1 more (R246L)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2989295	NM_017534.6(MYH2):c.1095A>G (p.Leu365=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2986329	NM_017534.6(MYH2):c.3026A>G (p.His1009Arg)	MYH2, MYHAS (H1009R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2984803	NM_017534.6(MYH2):c.3126del (p.Ser1043fs)	MYHAS, MYH2 (S1043fs)	Deletion (frameshift variant)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 2983529	NM_017534.6(MYH2):c.3871+5C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2983274	NM_017534.6(MYH2):c.3848G>C (p.Arg1283Thr)	MYH2, MYHAS (R1283T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2980279	NM_017534.6(MYH2):c.70C>G (p.Arg24Gly)	MYH2, MYHAS (R24G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2978793	NM_017534.6(MYH2):c.138C>A (p.Ser46=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2978242	NM_017534.6(MYH2):c.2063-12A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2975860	NM_017534.6(MYH2):c.2441+4T>A	MYHAS, MYH2	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2975761	NM_017534.6(MYH2):c.137C>A (p.Ser46Tyr)	MYH2, MYHAS (S46Y)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2973639	NM_017534.6(MYH2):c.2698G>A (p.Glu900Lys)	MYHAS, MYH2 (E900K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2973581	NM_017534.6(MYH2):c.1640C>T (p.Thr547Ile)	MYH2, MYHAS (T547I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2972837	NM_017534.6(MYH2):c.2669A>T (p.Lys890Ile)	MYH2, MYHAS (K890I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2970999	NM_017534.6(MYH2):c.505+17C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2963230	NM_017534.6(MYH2):c.2013C>A (p.Thr671=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2960442	NM_017534.6(MYH2):c.2305-18A>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2958708	NM_017534.6(MYH2):c.5511G>C (p.Lys1837Asn)	MYH2, MYHAS (K1837N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2958166	NM_017534.6(MYH2):c.4372-17A>C	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2955833	NM_017534.6(MYH2):c.3904G>C (p.Ala1302Pro)	MYH2, MYHAS (A1302P)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2919795	NM_017534.6(MYH2):c.5359C>A (p.Arg1787=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2919624	NM_017534.6(MYH2):c.91C>A (p.Pro31Thr)	MYH2, MYHAS (P31T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2918525	NM_017534.6(MYH2):c.3456C>T (p.Ile1152=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2916999	NM_017534.6(MYH2):c.525C>T (p.Ile175=)	MYH2, MYHAS +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2915578	NM_017534.6(MYH2):c.1822G>A (p.Val608Met)	MYHAS, MYH2 (V608M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2915247	NM_017534.6(MYH2):c.2909T>C (p.Val970Ala)	MYH2, MYHAS (V970A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2915188	NM_017534.6(MYH2):c.3843G>A (p.Ala1281=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2914251	NM_017534.6(MYH2):c.1847C>G (p.Ala616Gly)	MYH2, MYHAS (A616G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2914243	NM_017534.6(MYH2):c.3695T>C (p.Met1232Thr)	MYH2, MYHAS (M1232T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2911828	NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)	LOC126862500, MYH2 +1 more (A1666V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2910677	NM_017534.6(MYH2):c.5672C>T (p.Ala1891Val)	MYH2, MYHAS (A1891V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2906233	NM_017534.6(MYH2):c.2062+17T>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2905930	NM_017534.6(MYH2):c.4185C>G (p.Ala1395=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2904604	NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)	LOC126862500, MYH2 +1 more (E1474*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 2903458	NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)	MYH2, MYHAS (K1222R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2902132	NM_017534.6(MYH2):c.1114C>T (p.Arg372Cys)	MYH2, MYHAS (R372C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2899721	NM_017534.6(MYH2):c.2398G>C (p.Gly800Arg)	MYH2, MYHAS (G800R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2898351	NM_017534.6(MYH2):c.4971+6T>C	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2897955	NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)	LOC126862500, MYH2 +1 more (T1519K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2897153	NM_017534.6(MYH2):c.3606T>C (p.His1202=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2894757	NM_017534.6(MYH2):c.3801A>G (p.Ser1267=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2892990	NM_017534.6(MYH2):c.4537+9C>A	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2892183	NM_017534.6(MYH2):c.3492A>C (p.Ser1164=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2887616	NM_017534.6(MYH2):c.1147+7A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2884306	NM_017534.6(MYH2):c.2180+16T>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2883410	NM_017534.6(MYH2):c.3074C>A (p.Thr1025Asn)	MYH2, MYHAS (T1025N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2882798	NM_017534.6(MYH2):c.3471A>G (p.Glu1157=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2882797	NM_017534.6(MYH2):c.2655G>C (p.Thr885=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2880239	NM_017534.6(MYH2):c.2502C>G (p.Pro834=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2880104	NM_017534.6(MYH2):c.3500T>C (p.Ile1167Thr)	MYH2, MYHAS (I1167T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2878882	NM_017534.6(MYH2):c.2197G>A (p.Ala733Thr)	MYH2, MYHAS (A733T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2878795	NM_017534.6(MYH2):c.484G>A (p.Ala162Thr)	MYH2, MYHAS (A162T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2876945	NM_017534.6(MYH2):c.3188G>T (p.Gly1063Val)	MYH2, MYHAS (G1063V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2874977	NM_017534.6(MYH2):c.5569A>G (p.Thr1857Ala)	MYH2, MYHAS (T1857A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2872632	NM_017534.6(MYH2):c.5597A>G (p.Asn1866Ser)	MYH2, MYHAS (N1866S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2872294	NM_017534.6(MYH2):c.1691C>A (p.Ala564Asp)	MYH2, MYHAS (A564D)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2871084	NM_017534.6(MYH2):c.4102T>C (p.Ser1368Pro)	MYH2, MYHAS (S1368P)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2870860	NM_017534.6(MYH2):c.3975T>C (p.Leu1325=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2869303	NM_017534.6(MYH2):c.1482C>T (p.His494=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2867114	NM_017534.6(MYH2):c.453C>T (p.Ala151=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2861782	NM_017534.6(MYH2):c.4297G>A (p.Asp1433Asn)	MYH2, MYHAS (D1433N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2857007	NM_017534.6(MYH2):c.5446A>G (p.Lys1816Glu)	MYH2, MYHAS (K1816E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2853819	NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2853206	NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)	LOC126862500, MYH2 +1 more (A1678V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2851905	NM_017534.6(MYH2):c.2181-12G>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2851423	NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)	LOC126862500, MYH2 +1 more (L1628I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 2851422	NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)	MYH2, MYHAS (L1156fs)	Deletion (frameshift variant)	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 2849977	NM_017534.6(MYH2):c.1417-10A>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2848660	NM_017534.6(MYH2):c.5674-16C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia	GLikely benign
Select item 2848258	NM_017534.6(MYH2):c.3775G>C (p.Glu1259Gln)	MYH2, MYHAS (E1259Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance

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