"Retina International"[submitter] AND "PRPH2"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98654	NM_000322.5(PRPH2):c.851_854del	PRPH2	Deletion (3 prime UTR variant)	not provided	Gnot provided
Select item 98724	NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)	PRPH2 (Q331*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 13176	NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	PRPH2 (W316*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 98721	NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	PRPH2 (P313L)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 98719	NM_000322.5(PRPH2):c.914_922del (p.Gly305_Leu308delinsVal)	PRPH2	Deletion (inframe_indel)	not provided	GPathogenic
Select item 98720	NM_000322.5(PRPH2):c.920del (p.Leu307fs)	PRPH2 (L307fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 98718	NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)	PRPH2 (G305D)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 98717	NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	PRPH2 (E302*)	Single nucleotide variant (nonsense)	Adult-onset foveomacular vitelliform dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 13171	NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)	PRPH2 (S301fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 98715	NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	PRPH2 (S289L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 98714	NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)	PRPH2 (Y285*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 98713	NM_000322.5(PRPH2):c.828+3A>T	PRPH2	Single nucleotide variant (intron variant)	Doyne honeycomb retinal dystrophy +9 more	GPathogenic
Select item 98712	NM_000322.5(PRPH2):c.824_825del (p.Leu274_Phe275insTer)	PRPH2	Deletion (nonsense)	not provided	GPathogenic
Select item 98710	NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)	PRPH2 (V268I)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GUncertain significance
Select item 98709	NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	PRPH2 (G266D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 98706	NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	PRPH2 (W246R)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 3	GLikely pathogenic
Select item 98705	NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)	PRPH2 (N244K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 13172	NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	PRPH2 (N244K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 98704	NM_000322.5(PRPH2):c.730A>C (p.Asn244His)	PRPH2 (N244H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 98703	NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	PRPH2 (Q239*)	Single nucleotide variant (nonsense)	Patterned dystrophy of the retinal pigment epithelium +4 more	GPathogenic
Select item 98702	NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)	PRPH2	Single nucleotide variant (synonymous variant)	Adult-onset foveomacular vitelliform dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 98701	NM_000322.5(PRPH2):c.700dup (p.Tyr234fs)	PRPH2 (Y234fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 98699	NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	PRPH2 (R220Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 98698	NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	PRPH2 (R220W)	Single nucleotide variant (missense variant)	Patterned dystrophy of the retinal pigment epithelium +4 more	GConflicting classifications of pathogenicity
Select item 98697	NM_000322.5(PRPH2):c.656_658del (p.Pro219del)	PRPH2 (P219del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 98696	NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)	PRPH2 (P219R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13164	NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	PRPH2 (P216L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +4 more	GPathogenic
Select item 98695	NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	PRPH2 (P216S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 98694	NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser)	PRPH2 (C214S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 98693	NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr)	PRPH2 (C214Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98692	NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	PRPH2 (C213Y)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 98691	NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	PRPH2 (C213R)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 98690	NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	PRPH2 (S212T)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 98689	NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)	PRPH2 (S212G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 98688	NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)	PRPH2 (F211L)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 98687	NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)	PRPH2 (P210L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 13173	NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	PRPH2 (P210R)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2 +5 more	GPathogenic/Likely pathogenic
Select item 98686	NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)	PRPH2 (P210S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98684	NM_000322.5(PRPH2):c.616_627del (p.Val206_Val209del)	PRPH2	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 98683	NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)	PRPH2 (Y204fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 98685	NM_000322.5(PRPH2):c.623dup (p.Val209fs)	PRPH2 (V209fs)	Duplication (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 98682	NM_000322.5(PRPH2):c.599T>A (p.Val200Glu)	PRPH2 (V200E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98681	NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)	PRPH2 (K197E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13182	NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)	PRPH2 (R195L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 98680	NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)	PRPH2 (K193fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 98679	NM_000322.5(PRPH2):c.577_579del (p.Lys193del)	PRPH2 (K193del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 13165	NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	PRPH2 (L185P)	Single nucleotide variant (missense variant)	Patterned dystrophy of the retinal pigment epithelium +4 more	GPathogenic/Likely pathogenic
Select item 98678	NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser)	PRPH2 (Y184S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 98677	NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)	PRPH2 (W179R)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 98676	NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)	PRPH2 (Q178R)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GLikely pathogenic
Select item 13181	NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	PRPH2 (D173V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +1 more	GPathogenic/Likely pathogenic
Select item 13167	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	PRPH2 (R172Q)	Single nucleotide variant (missense variant)	PRPH2-related disorder +5 more	GPathogenic
Select item 98675	NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly)	PRPH2 (R172G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13170	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	PRPH2 (R172W)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2 +9 more	GPathogenic/Likely pathogenic
Select item 98674	NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser)	PRPH2 (G170S)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GUncertain significance
Select item 98673	NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del)	PRPH2 (N169del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 13169	NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	PRPH2 (G167D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 98672	NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)	PRPH2 (C165Y)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 98671	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	PRPH2 (D157N)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 13178	NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	PRPH2 (K154del)	Microsatellite (inframe_deletion)	PRPH2-related disorder +2 more	GPathogenic
Select item 98669	NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)	PRPH2 (K153R)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 98668	NM_000322.5(PRPH2):c.441del (p.Gly148fs)	PRPH2 (G148fs)	Deletion (frameshift variant)	PRPH2-related disorder +2 more	GPathogenic
Select item 98667	NM_000322.5(PRPH2):c.423_424insTACT (p.Arg142fs)	PRPH2 (R142fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 13183	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	PRPH2 (R142W)	Single nucleotide variant (missense variant)	PRPH2-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 98666	NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	PRPH2 (Y141C)	Single nucleotide variant (missense variant)	Autosomal recessive bestrophinopathy +7 more	GPathogenic/Likely pathogenic
Select item 98665	NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)	PRPH2 (Y141H)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
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 98661	NM_000322.5(PRPH2):c.371del (p.Gly124fs)	PRPH2 (G124fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 13162	NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)	PRPH2 (C119del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98659	NM_000322.5(PRPH2):c.303C>T (p.Tyr101=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 98658	NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	PRPH2	Single nucleotide variant (synonymous variant)	Adult-onset foveomacular vitelliform dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 98657	NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)	PRPH2 (G68R)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 98655	NM_000322.5(PRPH2):c.198_202delinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg)	PRPH2	Indel (inframe_indel)	not provided	Gnot provided
Select item 98656	NM_000322.5(PRPH2):c.199_201del (p.Met67del)	PRPH2 (M67del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 13179	NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	PRPH2 (R46*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 98653	NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)	PRPH2 (L45F)	Single nucleotide variant (missense variant)	PRPH2-related disorder +7 more	GBenign/Likely benign
Select item 13177	NM_000322.5(PRPH2):c.113del (p.Gly38fs)	PRPH2 (G38fs)	Deletion (frameshift variant)	PRPH2-related disorder +3 more	GPathogenic
Select item 98723	NM_000322.5(PRPH2):c.96dup (p.Ile33fs)	PRPH2 (I33fs)	Duplication (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 98722	NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	PRPH2 (I32V)	Single nucleotide variant (missense variant)	PRPH2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 98711	NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)	PRPH2 (S27F)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 98707	NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)	PRPH2 (W25fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 98664	NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	PRPH2 (R13W)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 98663	NM_000322.5(PRPH2):c.37C>A (p.Arg13=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 13175	NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	PRPH2 (M1T)	Single nucleotide variant (missense variant +1 more)	PRPH2-related disorder	GPathogenic

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Items: 86