"PreventionGenetics, part of Exact Sciences"[submitter] AND "RBM10"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296132	NM_005676.5(RBM10):c.-149T>C	LOC130068208, NDUFB11 +1 more (S6P)	Single nucleotide variant (5 prime UTR variant +1 more)	RBM10-related disorder +1 more	GBenign
Select item 3049165	NM_005676.5(RBM10):c.252G>C (p.Arg84=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	RBM10-related disorder	GLikely benign
Select item 3048944	NM_005676.5(RBM10):c.253C>A (p.Arg85=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	RBM10-related disorder	GLikely benign
Select item 2797022	NM_005676.5(RBM10):c.336GGA[7] (p.Glu119del)	RBM10 (E119del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2870967	NM_005676.5(RBM10):c.495A>G (p.Lys165=)	RBM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 721169	NM_005676.5(RBM10):c.1175A>G (p.Asn392Ser)	RBM10 (N314S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 738001	NM_005676.5(RBM10):c.1230C>G (p.Ala410=)	RBM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 719274	NM_005676.5(RBM10):c.1536C>T (p.Ala512=)	RBM10	Single nucleotide variant (synonymous variant)	RBM10-related disorder +1 more	GBenign
Select item 3043765	NM_005676.5(RBM10):c.1749C>T (p.Asp583=)	RBM10	Single nucleotide variant (synonymous variant)	RBM10-related disorder	GLikely benign
Select item 788052	NM_005676.5(RBM10):c.1758C>T (p.Thr586=)	RBM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 749986	NM_005676.5(RBM10):c.2319G>A (p.Ala773=)	RBM10	Single nucleotide variant (synonymous variant)	RBM10-related disorder +1 more	GLikely benign
Select item 2057825	NM_005676.5(RBM10):c.2379A>C (p.Arg793=)	RBM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2629534	NM_005676.5(RBM10):c.2430+1G>A	RBM10	Single nucleotide variant (splice donor variant)	RBM10-related disorder	GLikely pathogenic
Select item 2058589	NM_005676.5(RBM10):c.2484C>T (p.Pro828=)	RBM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign