Related gene-specific medical variations for Gene (Select 4628) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361590	NM_001256012.3(MYH10):c.3976C>T (p.Leu1326Phe)	MYH10 (L1295F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361584	NM_001256012.3(MYH10):c.1678G>C (p.Val560Leu)	MYH10 (V550L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361275	NM_001256012.3(MYH10):c.3043G>C (p.Glu1015Gln)	MYH10 (E1015Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359740	NM_001256012.3(MYH10):c.4477A>T (p.Ser1493Cys)	MYH10 (S1462C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359665	NM_001256012.3(MYH10):c.3200T>G (p.Ile1067Ser)	MYH10 (I1036S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359508	NM_001256012.3(MYH10):c.1716G>C (p.Lys572Asn)	MYH10 (K562N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155985	NM_001256012.3(MYH10):c.2699C>T (p.Thr900Met)	LOC126862486, MYH10 (T878M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155984	NM_001256012.3(MYH10):c.2687A>G (p.Lys896Arg)	LOC126862486, MYH10 (K865R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046495	NM_001256012.3(MYH10):c.2622G>A (p.Pro874=)	LOC126862486, MYH10	Single nucleotide variant (synonymous variant)	MYH10-related disorder	GLikely benign
Select item 3041192	NM_001256012.3(MYH10):c.5835C>T (p.Asn1945=)	LOC125177414, MYH10	Single nucleotide variant (synonymous variant)	MYH10-related disorder	GLikely benign
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 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 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 2689487	NM_001256012.3(MYH10):c.784G>A (p.Val262Ile)	MYH10 (V252I +2 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 disorder	GUncertain significance
Select item 2635314	NM_001256012.3(MYH10):c.2731C>T (p.Arg911Trp)	LOC126862486, MYH10 (R880W +3 more)	Single nucleotide variant (missense variant)	MYH10-related disorder	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 2573803	NM_001256012.3(MYH10):c.2591A>G (p.Gln864Arg)	LOC126862486, MYH10 (Q833R +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 1679727	NM_001256012.3(MYH10):c.4148AGG[7] (p.Glu1388dup)	MYH10	Microsatellite (inframe_insertion)	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 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 811078	NM_001256012.3(MYH10):c.3321G>A (p.Ala1107=)	MYH10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 756434	NM_001256012.3(MYH10):c.2679G>A (p.Leu893=)	LOC126862486, MYH10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618228	NM_001256012.3(MYH10):c.4914T>C (p.Asp1638=)	MYH10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 167869	NM_001256012.3(MYH10):c.2722G>T (p.Glu908Ter)	LOC126862486, MYH10 (E908* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Links from Gene

Items: 30