"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RNF213-AS1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2864517	NM_001256071.3(RNF213):c.10450G>A (p.Gly3484Ser)	RNF213, RNF213-AS1 (G3533S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3380531	NM_001256071.3(RNF213):c.11210A>G (p.Lys3737Arg)	RNF213, RNF213-AS1 (K3737R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380532	NM_001256071.3(RNF213):c.11671A>G (p.Met3891Val)	RNF213, RNF213-AS1 (M3891V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210007	NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)	RNF213, RNF213-AS1 (R4019C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 780068	NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu)	RNF213, RNF213-AS1 (P4531L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3380533	NM_001256071.3(RNF213):c.13808A>G (p.Asn4603Ser)	RNF213, RNF213-AS1 (N4603S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600883	NM_001256071.3(RNF213):c.14072A>G (p.His4691Arg)	RNF213, RNF213-AS1 (H4691R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 39700	NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	RNF213, RNF213-AS1 (R4810K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723725	NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)	LOC126862664, RNF213 +1 more (E4893Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3380534	NM_001256071.3(RNF213):c.15340G>A (p.Ala5114Thr)	RNF213, RNF213-AS1 (A5114T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance