"GeneDx"[submitter] AND "RNF216"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 1303223	NM_207111.4(RNF216):c.2467C>T (p.Arg823Cys)	RNF216 (R766C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152011	GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3	LOC110121162, LOC123924897 +15 more	Copy number gain	See cases	GLikely benign
Select item 2501423	NM_207111.4(RNF216):c.2279G>A (p.Cys760Tyr)	RNF216 (C703Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310428	NM_207111.4(RNF216):c.1988C>T (p.Pro663Leu)	RNF216 (P606L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501625	NM_207111.4(RNF216):c.1779C>G (p.Phe593Leu)	RNF216 (F536L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407791	NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys)	RNF216 (R573C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817880	NM_207111.4(RNF216):c.930del (p.Glu310fs)	RNF216 (E310fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2663322	NM_207111.4(RNF216):c.607G>C (p.Asp203His)	RNF216 (D146H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343198	NM_207111.4(RNF216):c.451C>A (p.Gln151Lys)	RNF216 (Q151K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 669433	NM_207111.4(RNF216):c.445A>C (p.Ser149Arg)	RNF216 (S149R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3364427	NM_207111.4(RNF216):c.17A>G (p.Asn6Ser)	RNF216 (N6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance