RBM17[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2383887	NM_032905.5(RBM17):c.188C>T (p.Ser63Leu)	RBM17 (S63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236238	NM_032905.5(RBM17):c.236T>G (p.Leu79Arg)	RBM17 (L79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210798	NM_032905.5(RBM17):c.307A>G (p.Met103Val)	RBM17 (M103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313206	NM_032905.5(RBM17):c.321T>A (p.Asp107Glu)	RBM17 (D107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152219	NM_032905.5(RBM17):c.325G>A (p.Glu109Lys)	RBM17 (E109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527624	NM_032905.5(RBM17):c.508A>G (p.Met170Val)	RBM17 (M170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152220	NM_032905.5(RBM17):c.557A>G (p.Lys186Arg)	RBM17 (K186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719467	NM_032905.5(RBM17):c.840C>T (p.Gly280=)	RBM17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572330	NM_032905.5(RBM17):c.973G>T (p.Glu325Ter)	RBM17 (E325*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2263398	NM_032905.5(RBM17):c.1004A>G (p.Lys335Arg)	RBM17 (K335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance