C5200934[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9 (R1933*)	Single nucleotide variant (nonsense)	MYH9-related disorder +2 more	GPathogenic
Select item 1699301	NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu)	MYH9 (V1930L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1805850	NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)	MYH9 (A1886V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1805344	NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)	MYH9 (Q1420E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9 (R1165C)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic
Select item 1804967	NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)	LOC126863137, MYH9 (K989Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804897	NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)	LOC126863137, MYH9 (K974Q)	Single nucleotide variant (missense variant)	not provided +1 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	GLikely pathogenic
Select item 14079	NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	MYH9 (R705H)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 562364	NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)	MYH9 (R424Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 14083	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	MYH9 (S96L)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic