"PreventionGenetics, part of Exact Sciences"[submitter] AND "RIPOR2"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595299	NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)	RIPOR2 (T1066A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2703036	NM_001286445.3(RIPOR2):c.3063A>C (p.Ala1021=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder +1 more	GLikely benign
Select item 768069	NM_001286445.3(RIPOR2):c.2802C>T (p.Asn934=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2182324	NM_001286445.3(RIPOR2):c.2745C>T (p.Leu915=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 508139	NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile)	RIPOR2 (V882I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1680486	NM_001286445.3(RIPOR2):c.2573C>T (p.Ser858Leu)	RIPOR2 (S829L +2 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder +2 more	GUncertain significance
Select item 1961494	NM_001286445.3(RIPOR2):c.2173G>A (p.Val725Ile)	RIPOR2 (V746I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2628912	NM_001286445.3(RIPOR2):c.1880G>A (p.Ser627Asn)	RIPOR2 (S598N +2 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder	GUncertain significance
Select item 3035935	NM_001286445.3(RIPOR2):c.1858-1426C>T	RIPOR2	Single nucleotide variant (3 prime UTR variant +1 more)	RIPOR2-related disorder	GLikely benign
Select item 805270	NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)	RIPOR2 (A557V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2629161	NM_001286445.3(RIPOR2):c.1616A>C (p.Glu539Ala)	RIPOR2 (E510A +3 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder	GUncertain significance
Select item 1258140	NM_001286445.3(RIPOR2):c.1152C>G (p.Asp384Glu)	RIPOR2 (D355E +2 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder +1 more	GBenign/Likely benign
Select item 3030360	NM_001286445.3(RIPOR2):c.1137G>A (p.Thr379=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 3041315	NM_001286445.3(RIPOR2):c.1014G>A (p.Leu338=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 3040100	NM_001286445.3(RIPOR2):c.999T>A (p.Leu333=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 509186	NM_001286445.3(RIPOR2):c.521C>G (p.Ala174Gly)	RIPOR2 (A145G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1318100	NM_001286445.3(RIPOR2):c.502-10A>C	RIPOR2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 666748	NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)	RIPOR2 (T94K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 929887	NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=)	RIPOR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3038775	NM_001286446.3(RIPOR2):c.-2C>T	RIPOR2	Single nucleotide variant (5 prime UTR variant)	RIPOR2-related disorder	GLikely benign

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Items: 20