"GeneDx"[submitter] AND "PRPH2"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 356749	NM_000322.5(PRPH2):c.*1375C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Pigmentary retinal dystrophy +6 more	GBenign
Select item 1279045	NM_000322.5(PRPH2):c.*1370A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 356750	NM_000322.5(PRPH2):c.*1357C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356756	NM_000322.5(PRPH2):c.*1001C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign
Select item 356759	NM_000322.5(PRPH2):c.*898C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign
Select item 356760	NM_000322.5(PRPH2):c.*839G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign
Select item 356762	NM_000322.5(PRPH2):c.*762C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign
Select item 356764	NM_000322.5(PRPH2):c.*543G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Pigmentary retinal dystrophy +6 more	GBenign
Select item 1683854	NM_000322.5(PRPH2):c.*484dup	PRPH2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 356765	NM_000322.5(PRPH2):c.483_484dup	PRPH2	Duplication (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GConflicting classifications of pathogenicity
Select item 356766	NM_000322.5(PRPH2):c.*484del	PRPH2	Deletion (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign/Likely benign
Select item 356769	NM_000322.5(PRPH2):c.*276G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Pigmentary retinal dystrophy +6 more	GBenign
Select item 356771	NM_000322.5(PRPH2):c.*174C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356773	NM_000322.5(PRPH2):c.*145G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Pigmentary retinal dystrophy +6 more	GBenign
Select item 356774	NM_000322.5(PRPH2):c.*132C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Pigmentary retinal dystrophy +6 more	GBenign
Select item 138906	NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)	PRPH2 (D338G)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar 2 +10 more	GBenign
Select item 138905	NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	PRPH2 (R310K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +11 more	GBenign
Select item 3368422	NM_000322.5(PRPH2):c.910_911delinsGT (p.Gln304Val)	PRPH2 (Q304V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1027278	NM_000322.5(PRPH2):c.911A>C (p.Gln304Pro)	PRPH2 (Q304P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138904	NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	PRPH2 (Q304E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +10 more	GBenign
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 255827	NM_000322.5(PRPH2):c.829-48C>T	PRPH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1261528	NM_000322.5(PRPH2):c.829-120C>G	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266067	NM_000322.5(PRPH2):c.829-230A>G	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286052	NM_000322.5(PRPH2):c.829-261G>T	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285770	NM_000322.5(PRPH2):c.828+284_828+285del	PRPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258023	NM_000322.5(PRPH2):c.828+260del	PRPH2	Deletion (intron variant)	not provided	GBenign
Select item 1257245	NM_000322.5(PRPH2):c.828+244T>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266021	NM_000322.5(PRPH2):c.828+241del	PRPH2	Deletion (intron variant)	not provided	GBenign
Select item 1297750	NM_000322.5(PRPH2):c.828+176TATT[7]	PRPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1239952	NM_000322.5(PRPH2):c.828+176TATT[5]	PRPH2	Microsatellite (intron variant)	not provided	GBenign
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 1017159	NM_000322.5(PRPH2):c.823T>C (p.Phe275Leu)	PRPH2 (F275L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GUncertain significance
Select item 942581	NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg)	PRPH2 (T269R)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 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 1091067	NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)	PRPH2 (L261F)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 419521	NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	PRPH2 (C250S)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3365810	NM_000322.5(PRPH2):c.743G>A (p.Arg248His)	PRPH2 (R248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 816994	NM_000322.5(PRPH2):c.707dup (p.Tyr236Ter)	PRPH2 (Y236*)	Duplication (nonsense)	not provided	GPathogenic
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 1187632	NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)	PRPH2 (A232V)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3368438	NM_000322.5(PRPH2):c.671A>C (p.Gln224Pro)	PRPH2 (Q224P)	Single nucleotide variant (missense variant)	not provided	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 2430832	NM_000322.5(PRPH2):c.661C>T (p.Pro221Ser)	PRPH2 (P221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2580761	NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)	PRPH2 (P219A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 2179204	NM_000322.5(PRPH2):c.621C>A (p.Asp207Glu)	PRPH2 (D207E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 973709	NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)	PRPH2 (L205P)	Single nucleotide variant (missense variant)	not provided +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 429433	NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn)	PRPH2 (I196N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 973722	NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)	PRPH2 (R195*)	Single nucleotide variant (nonsense)	Patterned dystrophy of the retinal pigment epithelium +3 more	GPathogenic/Likely pathogenic
Select item 1228297	NM_000322.5(PRPH2):c.582-58A>G	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175285	NM_000322.5(PRPH2):c.582-67T>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175284	NM_000322.5(PRPH2):c.582-85G>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275570	NM_000322.5(PRPH2):c.582-225C>T	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274264	NM_000322.5(PRPH2):c.581+81C>T	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 13169	NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	PRPH2 (G167D)	Single nucleotide variant (missense variant)	not provided +1 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 909080	NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	PRPH2	Single nucleotide variant (synonymous variant)	Patterned macular dystrophy 1 +9 more	GBenign/Likely benign
Select item 707592	NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)	PRPH2 (I161M)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1175280	NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)	PRPH2 (K153E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418424	NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)	PRPH2 (R142Q)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
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 939112	NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)	PRPH2 (K135E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 942510	NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)	PRPH2 (L130P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92846	NM_000322.5(PRPH2):c.318T>C (p.Val106=)	PRPH2	Single nucleotide variant (synonymous variant)	Vitelliform macular dystrophy 3 +10 more	GBenign
Select item 419667	NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)	PRPH2 (Y101*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 193083	NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)	PRPH2 (Y91N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1320737	NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn)	PRPH2 (D84N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 999926	NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser)	PRPH2 (C72S)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GUncertain significance
Select item 504093	NM_000322.5(PRPH2):c.174_184del (p.His58fs)	PRPH2 (H58fs)	Deletion (frameshift variant)	not provided	GLikely 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 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 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 138908	NM_000322.5(PRPH2):c.-11A>C	PRPH2	Single nucleotide variant (5 prime UTR variant)	Choroidal dystrophy, central areolar 2 +6 more	GBenign
Select item 1290068	NC_000006.12:g.42722776G>A	PRPH2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1257259	NC_000006.12:g.42722950A>C	PRPH2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 138907	NM_000322.4:c.+13C>T	PRPH2	Single nucleotide variant	not provided	GBenign

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Items: 94