"Blueprint Genetics"[submitter] AND "PRPH2"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 842434	NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)	PRPH2 (A339fs)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 867112	NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs)	PRPH2 (A339fs)	Insertion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 867019	NM_000322.5(PRPH2):c.994G>A (p.Val332Met)	PRPH2 (V332M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 867132	NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)	PRPH2 (S322fs)	Microsatellite (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 866600	NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)	PRPH2 (P313fs)	Deletion (frameshift variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 865787	NM_000322.5(PRPH2):c.934del (p.Val312fs)	PRPH2 (V312fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866239	NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)	PRPH2 (S301fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 866246	NM_000322.5(PRPH2):c.863C>T (p.Thr288Met)	PRPH2 (T288M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
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 867087	NM_000322.5(PRPH2):c.828G>A (p.Glu276=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 812384	NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	PRPH2 (L271del)	Microsatellite (inframe_deletion)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866423	NM_000322.5(PRPH2):c.774_775del (p.Tyr258_Ser259delinsTer)	PRPH2	Deletion (nonsense)	Retinal dystrophy	GPathogenic
Select item 866802	NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)	PRPH2 (Y257*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 866667	NM_000322.5(PRPH2):c.765_769del (p.Ser256fs)	PRPH2 (S256fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865855	NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)	PRPH2 (C250F)	Single nucleotide variant (missense 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 866925	NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	PRPH2 (Y236*)	Single nucleotide variant (nonsense)	Patterned dystrophy of the retinal pigment epithelium +3 more	GPathogenic/Likely pathogenic
Select item 866449	NM_000322.5(PRPH2):c.698A>G (p.His233Arg)	PRPH2 (H233R)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GUncertain significance
Select item 866472	NM_000322.5(PRPH2):c.681C>G (p.Ile227Met)	PRPH2 (I227M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866971	NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)	PRPH2 (C222S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866753	NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)	PRPH2 (C222Y)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 813079	NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)	PRPH2 (S218*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely 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 844144	NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)	PRPH2 (P216A)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely 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 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 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 437965	NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	PRPH2 (G208D)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 866397	NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly)	PRPH2 (D207G)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 523772	NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)	PRPH2 (Y204*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 866564	NM_000322.5(PRPH2):c.610T>C (p.Tyr204His)	PRPH2 (Y204H)	Single nucleotide variant (missense variant)	Patterned dystrophy of the retinal pigment epithelium +2 more	GUncertain significance
Select item 866845	NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro)	PRPH2 (R195P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866648	NM_000322.5(PRPH2):c.581+1G>A	PRPH2	Single nucleotide variant (splice donor variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
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 866791	NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu)	PRPH2 (K190E)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
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 866955	NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)	PRPH2 (W179C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 418425	NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)	PRPH2 (W174C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 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 143070	NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	PRPH2 (G167S)	Single nucleotide variant (missense variant)	PRPH2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 191208	NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)	PRPH2 (C166Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 867057	NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)	PRPH2 (L159R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 866554	NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)	PRPH2 (T155I)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GUncertain significance
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 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 143069	NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)	PRPH2 (G137D)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 866947	NM_000322.5(PRPH2):c.306_320del (p.Ala103_Leu107del)	PRPH2	Deletion (inframe_deletion)	Retinal dystrophy	GUncertain significance
Select item 865978	NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)	PRPH2 (C82*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +2 more	GPathogenic/Likely pathogenic
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 13177	NM_000322.5(PRPH2):c.113del (p.Gly38fs)	PRPH2 (G38fs)	Deletion (frameshift variant)	PRPH2-related disorder +3 more	GPathogenic
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 865760	NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)	PRPH2 (Q10*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic

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Items: 58