"Athena Diagnostics"[submitter] AND "RIPOR2"[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 508155	NM_001286445.3(RIPOR2):c.2895A>G (p.Leu965=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 994449	NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508139	NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile)	RIPOR2 (V882I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 508583	NM_001286445.3(RIPOR2):c.2507-6G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 994448	NM_001286445.3(RIPOR2):c.1858-1422G>T	RIPOR2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 586405	NM_001286445.3(RIPOR2):c.1858-1486C>T	RIPOR2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 509122	NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)	RIPOR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 805270	NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)	RIPOR2 (A557V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 508153	NM_001286445.3(RIPOR2):c.1495C>T (p.Arg499Cys)	RIPOR2 (R520C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 508152	NM_001286445.3(RIPOR2):c.1292C>G (p.Ser431Cys)	RIPOR2 (S452C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 508151	NM_001286445.3(RIPOR2):c.1207G>A (p.Glu403Lys)	RIPOR2 (E424K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 509125	NM_001286445.3(RIPOR2):c.1164+402C>G	RIPOR2 (F382L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 509124	NM_001286445.3(RIPOR2):c.1086A>G (p.Ala362=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 509123	NM_001286445.3(RIPOR2):c.1072G>T (p.Ala358Ser)	RIPOR2 (A329S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 508603	NM_001286445.3(RIPOR2):c.1045G>A (p.Val349Met)	RIPOR2 (V320M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 508605	NM_001286445.3(RIPOR2):c.715+8T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 509186	NM_001286445.3(RIPOR2):c.521C>G (p.Ala174Gly)	RIPOR2 (A145G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 666748	NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)	RIPOR2 (T94K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 805271	NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr)	RIPOR2 (R113T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508573	NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=)	RIPOR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 805272	NM_001286446.3(RIPOR2):c.43T>C (p.Trp15Arg)	RIPOR2 (W15R)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21