MYH10[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	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 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	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 712206	NM_001256012.3(MYH10):c.5985C>T (p.Thr1995=)	MYH10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2220187	NM_001256012.3(MYH10):c.5978G>C (p.Ser1993Thr)	MYH10 (S1972T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397412	NM_001256012.3(MYH10):c.5930T>C (p.Leu1977Pro)	MYH10 (L1946P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024411	NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)	MYH10 (R1944H +3 more)	Single nucleotide variant (missense variant)	Jaw-winking syndrome	GUncertain significance
Select item 2532112	NM_001256012.3(MYH10):c.5912G>C (p.Arg1971Pro)	MYH10 (R1971P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712638	NM_001256012.3(MYH10):c.5907del (p.Ser1970fs)	MYH10 (S1939fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2444573	NM_001256012.3(MYH10):c.5881C>T (p.Arg1961Trp)	MYH10 (R1930W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618226	NM_001256012.3(MYH10):c.5872C>T (p.Arg1958Trp)	LOC125177414, MYH10 (R1958W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576873	NM_001256012.3(MYH10):c.5858G>C (p.Ser1953Thr)	LOC125177414, MYH10 (S1922T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517955	NM_001256012.3(MYH10):c.5849G>A (p.Arg1950His)	LOC125177414, MYH10 (R1919H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551274	NM_001256012.3(MYH10):c.5836G>C (p.Glu1946Gln)	LOC125177414, MYH10 (E1924Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041192	NM_001256012.3(MYH10):c.5835C>T (p.Asn1945=)	LOC125177414, MYH10	Single nucleotide variant (synonymous variant)	MYH10-related condition	GLikely benign
Select item 2333408	NM_001256012.3(MYH10):c.5806C>T (p.Arg1936Trp)	LOC125177414, MYH10 (R1914W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689490	NM_001256012.3(MYH10):c.5777G>A (p.Arg1926His)	LOC125177414, MYH10 (R1895H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636700	NM_001256012.3(MYH10):c.5710G>C (p.Glu1904Gln)	LOC125177414, MYH10 (E1873Q +3 more)	Single nucleotide variant (missense variant)	MYH10-related condition	GUncertain significance
Select item 2647457	NM_001256012.3(MYH10):c.5706+5G>T	MYH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745663	NM_001256012.3(MYH10):c.5706+5G>A	MYH10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770441	NM_001256012.3(MYH10):c.5706+4C>T	MYH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662056	NM_001256012.3(MYH10):c.5696dup (p.Tyr1899Ter)	MYH10 (Y1868* +3 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 983383	NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)	MYH10 (R1863Q +3 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 2471802	NM_001256012.3(MYH10):c.5630G>A (p.Arg1877His)	MYH10 (R1846H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208911	NM_001256012.3(MYH10):c.5608G>A (p.Ala1870Thr)	MYH10 (A1848T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635189	NM_001256012.3(MYH10):c.5571_5582del (p.Glu1859_Glu1862del)	MYH10	Deletion (inframe_deletion)	MYH10-related condition	GUncertain significance
Select item 2219799	NM_001256012.3(MYH10):c.5582T>G (p.Leu1861Arg)	MYH10 (L1830R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662319	NM_001256012.3(MYH10):c.5581C>T (p.Leu1861Phe)	MYH10 (L1830F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255637	NM_001256012.3(MYH10):c.5531A>T (p.Lys1844Met)	MYH10 (K1813M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446594	NM_001256012.3(MYH10):c.5458dup (p.Gln1820fs)	MYH10 (Q1789fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2409411	NM_001256012.3(MYH10):c.5453G>A (p.Arg1818His)	MYH10 (R1818H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710856	NM_001256012.3(MYH10):c.5448T>A (p.Asn1816Lys)	MYH10 (N1785K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443437	NM_001256012.3(MYH10):c.5426G>T (p.Ser1809Ile)	MYH10 (S1778I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336270	NM_001256012.3(MYH10):c.5389G>A (p.Val1797Met)	MYH10 (V1766M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035196	NM_001256012.3(MYH10):c.5388+8A>G	MYH10	Single nucleotide variant (intron variant)	MYH10-related condition	GLikely benign
Select item 3049618	NM_001256012.3(MYH10):c.5379C>G (p.Thr1793=)	MYH10	Single nucleotide variant (synonymous variant)	MYH10-related condition	GLikely benign
Select item 2572272	NM_001256012.3(MYH10):c.5362G>A (p.Asp1788Asn)	MYH10 (D1757N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2461427	NM_001256012.3(MYH10):c.5303G>A (p.Arg1768Gln)	MYH10 (R1768Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2204931	NM_001256012.3(MYH10):c.5290C>T (p.Arg1764Cys)	MYH10 (R1764C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591326	NM_001256012.3(MYH10):c.5288G>T (p.Arg1763Leu)	MYH10 (R1741L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745664	NM_001256012.3(MYH10):c.5270C>T (p.Ala1757Val)	MYH10 (A1736V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710457	NM_001256012.3(MYH10):c.5235G>A (p.Ala1745=)	MYH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024409	NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)	MYH10 (R1704Q +3 more)	Single nucleotide variant (missense variant)	Jaw-winking syndrome	GUncertain significance
Select item 1181228	NM_001256012.3(MYH10):c.5175+17_5175+18insATTC	MYH10	Insertion (intron variant)	not provided	GBenign
Select item 3061500	NM_001256012.3(MYH10):c.5175+4G>A	MYH10	Single nucleotide variant (intron variant)	MYH10-related condition	GLikely benign
Select item 3032610	NM_001256012.3(MYH10):c.5104A>G (p.Ile1702Val)	MYH10 (I1671V +3 more)	Single nucleotide variant (missense variant)	MYH10-related condition	GUncertain significance
Select item 2378655	NM_001256012.3(MYH10):c.5087G>A (p.Arg1696His)	MYH10 (R1665H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465211	NM_001256012.3(MYH10):c.5069G>A (p.Arg1690His)	MYH10 (R1659H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628453	NM_001256012.3(MYH10):c.5047G>C (p.Ala1683Pro)	MYH10 (A1652P +3 more)	Single nucleotide variant (missense variant)	MYH10-related condition	GUncertain significance
Select item 1256834	NM_001256012.3(MYH10):c.5046+18T>C	MYH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2391727	NM_001256012.3(MYH10):c.4981G>A (p.Glu1661Lys)	MYH10 (E1630K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1013379	NM_001256012.3(MYH10):c.4928G>A (p.Arg1643Gln)	MYH10 (R1612Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618228	NM_001256012.3(MYH10):c.4914T>C (p.Asp1638=)	MYH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603641	NM_001256012.3(MYH10):c.4889G>A (p.Arg1630Gln)	MYH10 (R1599Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1281424	NM_001256012.3(MYH10):c.4885-1241C>T	MYH10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331610	NM_001256012.3(MYH10):c.4884+1G>A	MYH10	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2266069	NM_001256012.3(MYH10):c.4838C>T (p.Thr1613Ile)	MYH10 (T1591I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872122	NM_001256012.3(MYH10):c.4745T>C (p.Leu1582Pro)	MYH10 (L1560P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404500	NM_001256012.3(MYH10):c.4511G>A (p.Arg1504Gln)	MYH10 (R1483Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347736	NM_001256012.3(MYH10):c.4510C>T (p.Arg1504Trp)	MYH10 (R1483W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625873	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	MYH10 (R1502P +3 more)	Single nucleotide variant (missense variant)	Wide nose +6 more	GPathogenic
Select item 2662113	NM_001256012.3(MYH10):c.4492T>C (p.Tyr1498His)	MYH10 (Y1467H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689489	NM_001256012.3(MYH10):c.4412G>A (p.Arg1471His)	MYH10 (R1440H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387935	NM_001256012.3(MYH10):c.4313G>A (p.Arg1438His)	MYH10 (R1407H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039312	NM_001256012.3(MYH10):c.4296G>A (p.Ala1432=)	MYH10	Single nucleotide variant (synonymous variant)	MYH10-related condition	GLikely benign
Select item 2325656	NM_001256012.3(MYH10):c.4240G>T (p.Asp1414Tyr)	MYH10 (D1383Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061570	NM_001256012.3(MYH10):c.4170G>A (p.Arg1390=)	MYH10	Single nucleotide variant (synonymous variant)	MYH10-related condition	GLikely benign
Select item 1679727	NM_001256012.3(MYH10):c.4148AGG[7] (p.Glu1388dup)	MYH10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2444609	NM_001256012.3(MYH10):c.4150G>C (p.Glu1384Gln)	MYH10 (E1353Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256023	NM_001256012.3(MYH10):c.4105A>G (p.Ile1369Val)	MYH10 (I1348V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578521	NM_001256012.3(MYH10):c.4054C>T (p.Gln1352Ter)	MYH10 (Q1321* +3 more)	Single nucleotide variant (nonsense)	Complex neurodevelopmental disorders	GPathogenic
Select item 1804481	NM_001256012.3(MYH10):c.4017G>C (p.Lys1339Asn)	MYH10 (K1308N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286184	NM_001256012.3(MYH10):c.4001G>T (p.Gly1334Val)	MYH10 (G1312V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236800	NM_001256012.3(MYH10):c.3994A>G (p.Lys1332Glu)	MYH10 (K1301E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501890	NM_001256012.3(MYH10):c.3937G>A (p.Ala1313Thr)	MYH10 (A1282T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602116	NM_001256012.3(MYH10):c.3803C>T (p.Ala1268Val)	MYH10 (A1246V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046289	NM_001256012.3(MYH10):c.3784A>G (p.Thr1262Ala)	MYH10 (T1231A +3 more)	Single nucleotide variant (missense variant)	MYH10-related condition	GLikely benign
Select item 2525982	NM_001256012.3(MYH10):c.3776G>T (p.Gly1259Val)	MYH10 (G1237V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428853	NM_001256012.3(MYH10):c.3599+2T>G	MYH10	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2247198	NM_001256012.3(MYH10):c.3465G>T (p.Gln1155His)	MYH10 (Q1124H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532483	NM_001256012.3(MYH10):c.3445G>T (p.Ala1149Ser)	MYH10 (A1118S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690597	NM_001256012.3(MYH10):c.3374G>C (p.Gly1125Ala)	MYH10 (G1094A +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430111	NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)	MYH10 (E1091* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2536218	NM_001256012.3(MYH10):c.3326T>C (p.Ile1109Thr)	MYH10 (I1078T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811078	NM_001256012.3(MYH10):c.3321G>A (p.Ala1107=)	MYH10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2222395	NM_001256012.3(MYH10):c.3307G>A (p.Ala1103Thr)	MYH10 (A1072T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618227	NM_001256012.3(MYH10):c.3276C>A (p.Asp1092Glu)	MYH10 (D1092E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689488	NM_001256012.3(MYH10):c.3250C>A (p.Leu1084Met)	MYH10 (L1053M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558615	NM_001256012.3(MYH10):c.3238A>G (p.Thr1080Ala)	MYH10 (T1080A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275784	NM_001256012.3(MYH10):c.3158C>T (p.Ala1053Val)	MYH10 (A1053V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031911	NM_001256012.3(MYH10):c.3091-5T>G	MYH10	Single nucleotide variant (intron variant)	MYH10-related condition	GLikely benign
Select item 2505224	NM_001256012.3(MYH10):c.3090+2_3090+5del	MYH10	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2621897	NM_001256012.3(MYH10):c.3052A>T (p.Ile1018Phe)	MYH10 (I987F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208680	NM_001256012.3(MYH10):c.2815G>T (p.Glu939Ter)	MYH10 (E908* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2635314	NM_001256012.3(MYH10):c.2731C>T (p.Arg911Trp)	LOC126862486, MYH10 (R880W +3 more)	Single nucleotide variant (missense variant)	MYH10-related condition	GUncertain significance
Select item 167869	NM_001256012.3(MYH10):c.2722G>T (p.Glu908Ter)	LOC126862486, MYH10 (E908* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1326602	NM_001256012.3(MYH10):c.2700G>A (p.Thr900=)	LOC126862486, MYH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756434	NM_001256012.3(MYH10):c.2679G>A (p.Leu893=)	LOC126862486, MYH10	Single nucleotide variant (synonymous variant)	MYH10-related condition +1 more	GBenign/Likely benign

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