"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MYH9"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380711	NM_002473.6(MYH9):c.5835del (p.Glu1946fs)	MYH9 (E1946fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9 (R1933*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GPathogenic
Select item 2683570	NM_002473.6(MYH9):c.5309G>A (p.Arg1770His)	MYH9 (R1770H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380712	NM_002473.6(MYH9):c.4669C>T (p.Arg1557Trp)	MYH9 (R1557W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164432	NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)	MYH9 (V1516L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 14082	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9 (D1424N)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 164439	NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)	MYH9 (D1409N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 44562	NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)	MYH9 (R1400W)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1219716	NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)	MYH9 (V1280M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1370545	NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)	MYH9 (R1226L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9 (R1165C)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic
Select item 1691816	NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)	MYH9 (S1061C)	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2500720	NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)	LOC126863137, MYH9 (E894K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GLikely pathogenic
Select item 2066179	NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)	MYH9 (R802W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380713	NM_002473.6(MYH9):c.2335A>G (p.Ile779Val)	MYH9 (I779V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14081	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9 (R702H)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3380714	NM_002473.6(MYH9):c.200T>G (p.Val67Gly)	MYH9 (V67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance