Related gene-specific medical variations for Gene (Select 57644) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248340	NC_000020.10:g.(?_33564133)_(33574012_?)del	MYH7B	Deletion	not provided	GUncertain significance
Select item 2689501	NM_020884.7(MYH7B):c.1533G>A (p.Trp511Ter)	MYH7B (W511*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689500	NM_020884.7(MYH7B):c.2335G>A (p.Val779Ile)	MYH7B (V779I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689499	NM_020884.7(MYH7B):c.2289C>G (p.Tyr763Ter)	MYH7B (Y763*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689498	NM_020884.7(MYH7B):c.4096C>T (p.Arg1366Trp)	MYH7B (R1366W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638684	NM_020884.7(MYH7B):c.4931_4932del (p.Thr1644fs)	MYH7B (T1644fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 1	GPathogenic
Select item 638683	NM_020884.7(MYH7B):c.624+1G>A	MYH7B	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 1	GPathogenic
Select item 638682	NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs)	MYH7B (K206fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 1	GPathogenic
Select item 638681	NM_020884.7(MYH7B):c.5335G>C (p.Glu1779Gln)	MYH7B (E1779Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 638680	NM_020884.7(MYH7B):c.4415G>A (p.Arg1472Gln)	MYH7B (R1472Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 638679	NM_020884.7(MYH7B):c.2719G>C (p.Asp907His)	MYH7B (D907H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 638678	NM_020884.7(MYH7B):c.1837T>C (p.Phe613Leu)	MYH7B (F613L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 599539	NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs)	MYH7B	Microsatellite (splice donor variant)	Short stature	GPathogenic
Select item 599538	NM_020884.7(MYH7B):c.4190+5G>C	MYH7B	Single nucleotide variant (intron variant)	Short stature	GUncertain significance
Select item 599537	NM_020884.7(MYH7B):c.2986G>A (p.Val996Met)	MYH7B (V996M)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599536	NM_020884.7(MYH7B):c.1579_1581del (p.Ile527del)	MYH7B (I527del)	Deletion (inframe_deletion)	Short stature	GUncertain significance