"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623104	NM_002473.6(MYH9):c.5808del (p.Gly1938fs)	MYH9 (G1938fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
Select item 623111	NM_002473.6(MYH9):c.5800del (p.Met1934fs)	MYH9 (M1934fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
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 623110	NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs)	MYH9 (G1924fs)	Deletion (frameshift variant)	MYH9-related disorder	GPathogenic
Select item 14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9 (E1841K)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 627083	NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)	MYH9 (A1692T)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 623103	NM_002473.6(MYH9):c.5032A>G (p.Met1678Val)	MYH9 (M1678V)	Single nucleotide variant (missense variant)	MYH9-related disorder	GUncertain significance
Select item 623102	NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly)	MYH9 (D1649G)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 627311	NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg)	MYH9 (M1510R)	Single nucleotide variant (missense variant)	MYH9-related disorder	GUncertain significance
Select item 627310	NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)	MYH9 (E1507Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627067	NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)	MYH9 (D1447G)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 204783	NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)	MYH9 (D1447V)	Single nucleotide variant (missense variant)	MYH9-related disorder	GLikely pathogenic
Select item 623101	NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)	MYH9 (Q1434H)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 523453	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9 (D1424G)	Single nucleotide variant (missense variant)	MYH9-related disorder +10 more	GLikely pathogenic
Select item 38966	NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)	MYH9 (D1424Y)	Single nucleotide variant (missense variant)	not provided +1 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 623100	NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala)	MYH9 (E1421A)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 623099	NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu)	MYH9 (S1195L)	Single nucleotide variant (missense variant)	MYH9-related disorder	GUncertain significance
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 623098	NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup)	MYH9	Duplication (inframe_insertion)	MYH9-related disorder	GUncertain significance
Select item 623097	NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys)	LOC126863137, MYH9 (E921K)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 623096	NM_002473.6(MYH9):c.2668del (p.Gln890fs)	LOC126863137, MYH9 (Q890fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
Select item 623109	NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	MYH9 (P836L)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 627042	NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn)	MYH9 (K801N)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 623108	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9 (R718W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 627035	NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)	MYH9 (R702S)	Single nucleotide variant (missense variant)	MYH9-related disorder	GLikely pathogenic
Select item 14078	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9 (R702C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GPathogenic
Select item 623107	NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)	MYH9 (K373N)	Single nucleotide variant (missense variant)	MYH9-related disorder	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
Select item 623106	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9 (A95T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 14075	NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)	MYH9 (N93K)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GPathogenic
Select item 623105	NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)	MYH9 (K74E)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GLikely pathogenic
Select item 627009	NM_002473.6(MYH9):c.154G>A (p.Glu52Lys)	MYH9 (E52K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GUncertain significance
Select item 627223	NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu)	MYH9 (A44L)	Indel (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 377017	NM_002473.6(MYH9):c.122T>C (p.Phe41Ser)	MYH9 (F41S)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 623095	NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del)	MYH9	Deletion (inframe_deletion)	MYH9-related disorder	GUncertain significance
Select item 627409	NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)	MYH9 (W33C)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GPathogenic
Select item 623094	NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)	MYH9 (W33G)	Single nucleotide variant (missense variant)	MYH9-related disorder	GLikely pathogenic

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Items: 39