"Revvity Omics, Revvity"[submitter] AND "RNF213"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500257	NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)	RNF213 (M567V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2689875	NM_001256071.3(RNF213):c.2299_2300del (p.Leu767fs)	RNF213 (L767fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2689876	NM_001256071.3(RNF213):c.3025-2A>C	RNF213	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2689874	NM_001256071.3(RNF213):c.7465_7466del (p.Ala2489fs)	RNF213 (A2489fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2689873	NM_001256071.3(RNF213):c.8635G>A (p.Val2879Ile)	RNF213 (V2879I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075994	NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)	RNF213, RNF213-AS1 (M3699T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1184842	NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)	RNF213, RNF213-AS1 (T4114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689877	NM_001256071.3(RNF213):c.13939C>A (p.Arg4647Ser)	RNF213, RNF213-AS1 (R4647S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance