CN239329[trait identifier] AND "Beijing Key Laboratory for Genetic Res - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065366	NM_002470.4(MYH3):c.5658+3_5658+6del	MYH3	Deletion (splice donor variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065369	NM_002470.4(MYH3):c.5220_5223del (p.Ser1740fs)	MYH3 (S1740fs)	Deletion (frameshift variant)	MYH3-related disorder	GLikely pathogenic
Select item 1255529	NM_002470.4(MYH3):c.4357-10G>A	LOC130060295, MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1065365	NM_002470.4(MYH3):c.4244T>G (p.Leu1415Arg)	MYH3 (L1415R)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065368	NM_002470.4(MYH3):c.4000del (p.Leu1334fs)	MYH3 (L1334fs)	Deletion (frameshift variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065363	NM_002470.4(MYH3):c.3661_3663del (p.Glu1221del)	MYH3 (E1221del)	Deletion (inframe_deletion)	MYH3-related disorder	GLikely pathogenic
Select item 1065364	NM_002470.4(MYH3):c.3062del (p.Ser1020_Leu1021insTer)	MYH3	Deletion (nonsense)	MYH3-related disorder	GLikely pathogenic
Select item 1065362	NM_002470.4(MYH3):c.1400A>C (p.Glu467Ala)	MYH3 (E467A)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065367	NM_002470.4(MYH3):c.1002+1G>A	MYH3	Single nucleotide variant (splice donor variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065361	NM_002470.4(MYH3):c.841G>A (p.Glu281Lys)	MYH3 (E281K)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic