"NEI Ophthalmic Genomics Laboratory, National Institutes of Health"[su - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636192	NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	PRPH2 (V332E)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 973731	NM_000322.5(PRPH2):c.974_977del (p.Lys325fs)	PRPH2 (K325fs)	Deletion (frameshift variant)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 973730	NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)	PRPH2 (E321*)	Single nucleotide variant (nonsense)	Stargardt disease	GUncertain significance
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 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 973723	NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser)	PRPH2 (P313S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GUncertain significance
Select item 100554	NM_000322.5(PRPH2):c.933C>T (p.Ser311=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-related disorder	GLikely benign
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 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 98713	NM_000322.5(PRPH2):c.828+3A>T	PRPH2	Single nucleotide variant (intron variant)	Doyne honeycomb retinal dystrophy +9 more	GPathogenic
Select item 973719	NM_000322.5(PRPH2):c.828+2T>C	PRPH2	Single nucleotide variant (splice donor variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
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 973718	NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)	PRPH2 (L254Q)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GPathogenic/Likely pathogenic
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 195062	NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	PRPH2 (E242G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 847943	NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	PRPH2 (T228I)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GLikely pathogenic
Select item 973715	NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)	PRPH2 (Y225*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
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 860907	NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)	PRPH2 (R220P)	Single nucleotide variant (missense variant)	Patterned dystrophy of the retinal pigment epithelium +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 971988	NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)	PRPH2 (P216fs)	Indel (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 356777	NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)	PRPH2 (S217G)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Dominant +7 more	GConflicting classifications of pathogenicity
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 973714	NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)	PRPH2 (C214*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 941494	NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)	PRPH2 (C213W)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic
Select item 973713	NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)	PRPH2 (C213S)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic
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 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 973710	NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)	PRPH2 (F211L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 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 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 973708	NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)	PRPH2 (Y204*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +3 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 973706	NM_000322.5(PRPH2):c.597del (p.Asn199fs)	PRPH2 (N199fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 973705	NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)	PRPH2 (K197fs)	Duplication (frameshift variant)	Stargardt disease	GLikely pathogenic
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 623212	NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	PRPH2 (R195Q)	Single nucleotide variant (missense variant)	PRPH2-related disorder +3 more	GPathogenic/Likely 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 942452	NM_000322.5(PRPH2):c.582-1G>A	PRPH2	Single nucleotide variant (splice acceptor variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
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 973727	NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys)	PRPH2 (S181C)	Single nucleotide variant (missense variant)	Stargardt disease	GUncertain significance
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 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 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 973726	NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser)	PRPH2 (W174S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GUncertain significance
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 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 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 973717	NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)	PRPH2 (C165F)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GConflicting classifications of pathogenicity
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 636074	NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	PRPH2 (Q160*)	Single nucleotide variant (nonsense)	Stargardt disease	GLikely pathogenic
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 973716	NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr)	PRPH2 (K153T)	Single nucleotide variant (missense variant)	Stargardt disease	GUncertain significance
Select item 98668	NM_000322.5(PRPH2):c.441del (p.Gly148fs)	PRPH2 (G148fs)	Deletion (frameshift variant)	PRPH2-related disorder +2 more	GPathogenic
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 684461	NM_000322.5(PRPH2):c.394del (p.Gln132fs)	PRPH2 (Q132fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
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 973712	NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	PRPH2 (E127G)	Single nucleotide variant (missense variant)	PRPH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 956620	NM_000322.5(PRPH2):c.318del (p.Leu107fs)	PRPH2 (L107fs)	Deletion (frameshift variant)	Patterned dystrophy of the retinal pigment epithelium +2 more	GPathogenic/Likely pathogenic
Select item 958838	NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)	PRPH2 (I104fs)	Deletion (frameshift variant)	Stargardt disease +2 more	GPathogenic
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 437964	NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)	PRPH2 (D87fs)	Deletion (frameshift variant)	Stargardt disease +1 more	GPathogenic
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 973711	NM_000322.5(PRPH2):c.163del (p.Ser55fs)	PRPH2 (S55fs)	Deletion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic
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 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 858947	NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys)	PRPH2 (W25C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80