Related gene-specific medical variations for Gene (Select 5961) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1275765	NM_000322.5(PRPH2):c.911_912dup (p.Gly305fs)	PRPH2 (G305fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 932046	NM_000322.5(PRPH2):c.793dup (p.Met265fs)	PRPH2 (M265fs)	Duplication (frameshift variant)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 867112	NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs)	PRPH2 (A339fs)	Insertion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 867087	NM_000322.5(PRPH2):c.828G>A (p.Glu276=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866947	NM_000322.5(PRPH2):c.306_320del (p.Ala103_Leu107del)	PRPH2	Deletion (inframe_deletion)	Retinal dystrophy	GUncertain significance
Select item 866675	NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly)	PRPH2 (D173G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866667	NM_000322.5(PRPH2):c.765_769del (p.Ser256fs)	PRPH2 (S256fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866641	NM_000322.5(PRPH2):c.743del (p.Arg248fs)	PRPH2 (R248fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866423	NM_000322.5(PRPH2):c.774_775del (p.Tyr258_Ser259delinsTer)	PRPH2	Deletion (nonsense)	Retinal dystrophy	GPathogenic
Select item 865854	NM_000322.5(PRPH2):c.458A>T (p.Lys153Met)	PRPH2 (K153M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865760	NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)	PRPH2 (Q10*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865759	NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe)	PRPH2 (C222F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 813080	NM_000322.5(PRPH2):c.686_689del (p.Asn229fs)	PRPH2 (N229fs)	Deletion (frameshift variant)	Cone dystrophy	GPathogenic
Select item 813078	NM_000322.5(PRPH2):c.461_464delinsTGGTCT (p.Lys154fs)	PRPH2 (K154fs)	Indel (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 813077	NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)	PRPH2 (Y91*)	Single nucleotide variant (nonsense)	Central areolar choroidal dystrophy	GPathogenic
Select item 161464	NM_000322.5(PRPH2):c.997G>A (p.Glu333Lys)	PRPH2 (E333K)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 138907	NM_000322.4:c.+13C>T	PRPH2	Single nucleotide variant	not provided	GBenign
Select item 98708	NM_000322.5(PRPH2):c.773A>C (p.Tyr258Ser)	PRPH2 (Y258S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98700	NM_000322.5(PRPH2):c.676C>G (p.Gln226Glu)	PRPH2 (Q226E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98679	NM_000322.5(PRPH2):c.577_579del (p.Lys193del)	PRPH2 (K193del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 98667	NM_000322.5(PRPH2):c.423_424insTACT (p.Arg142fs)	PRPH2 (R142fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98663	NM_000322.5(PRPH2):c.37C>A (p.Arg13=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98662	NM_000322.5(PRPH2):c.376C>G (p.Leu126Val)	PRPH2 (L126V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98655	NM_000322.5(PRPH2):c.198_202delinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg)	PRPH2	Indel (inframe_indel)	not provided	Gnot provided
Select item 98654	NM_000322.5(PRPH2):c.851_854del	PRPH2	Deletion (3 prime UTR variant)	not provided	Gnot provided

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Links from Gene

Items: 25