ClinVar for MedGen (Select 86317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689864	NM_002905.5(RDH5):c.952dup (p.Tyr318fs)	BLOC1S1-RDH5, CD63 +1 more (Y318fs)	Duplication (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 2582763	NM_000326.5(RLBP1):c.433C>A (p.Pro145Thr)	RLBP1 (P145T)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy	GUncertain significance
Select item 1805000	NM_002905.5(RDH5):c.608T>A (p.Val203Glu)	BLOC1S1-RDH5, CD63 +1 more (V203E)	Single nucleotide variant (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 1710108	NM_000326.5(RLBP1):c.683A>G (p.Gln228Arg)	RLBP1 (Q228R)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy	GUncertain significance
Select item 1687569	NM_002905.5(RDH5):c.394G>A (p.Val132Met)	BLOC1S1-RDH5, RDH5 (V132M)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 1686100	NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)	PRPH2 (M1R)	Single nucleotide variant (missense variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 1685416	NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)	PRPH2 (W179G)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +1 more	GLikely pathogenic
Select item 1323522	NM_002905.5(RDH5):c.625del (p.Arg209fs)	BLOC1S1-RDH5, CD63 +1 more (R209fs)	Deletion (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 1301830	NM_000326.5(RLBP1):c.-223-1G>A	RLBP1	Single nucleotide variant (splice acceptor variant)	Pigmentary retinal dystrophy	GUncertain significance
Select item 1293624	NM_002905.5(RDH5):c.569+47C>A	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	Pigmentary retinal dystrophy +1 more	GBenign
Select item 1076073	NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	PRPH2 (S231*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 944300	NM_002905.5(RDH5):c.190G>A (p.Gly64Arg)	BLOC1S1-RDH5, RDH5 (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932140	NM_000539.3(RHO):c.892G>A (p.Ala298Thr)	RHO (A298T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 932046	NM_000322.5(PRPH2):c.793dup (p.Met265fs)	PRPH2 (M265fs)	Duplication (frameshift variant)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 931938	NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)	PRPH2 (C166*)	Single nucleotide variant (nonsense)	Pigmentary retinal dystrophy +1 more	GPathogenic
Select item 930528	NM_002905.5(RDH5):c.248dup (p.Thr84fs)	BLOC1S1-RDH5, RDH5 (T84fs)	Duplication (frameshift variant)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 911725	NM_000322.5(PRPH2):c.*417A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 911661	NM_000322.5(PRPH2):c.*626A>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 911537	NM_000322.5(PRPH2):c.*1000C>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 910955	NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)	PRPH2 (K15R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 910832	NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)	PRPH2 (S125L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +6 more	GUncertain significance
Select item 910496	NM_000322.5(PRPH2):c.*509G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 910443	NM_000322.5(PRPH2):c.*661G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 909882	NM_000322.5(PRPH2):c.852C>A (p.Arg284=)	PRPH2	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 909688	NM_000322.5(PRPH2):c.*152G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 909504	NM_000322.5(PRPH2):c.*692C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 909503	NM_000322.5(PRPH2):c.*743G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 909080	NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	PRPH2	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy +9 more	GBenign/Likely benign
Select item 909079	NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)	PRPH2 (E162K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 908960	NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)	PRPH2 (F319L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 908891	NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)	PRPH2 (A342S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 908832	NM_000322.5(PRPH2):c.*152G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 908772	NM_000322.5(PRPH2):c.*350C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 908512	NM_000322.5(PRPH2):c.*1079G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 908443	NM_000322.5(PRPH2):c.*1372C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GBenign/Likely benign
Select item 908376	NM_000322.5(PRPH2):c.*1533A>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 908107	NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly)	PRPH2 (E56G)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 908040	NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)	PRPH2 (A116S)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 887774	NM_000326.5(RLBP1):c.-169T>A	RLBP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887714	NM_000326.5(RLBP1):c.228G>C (p.Ser76=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887654	NM_000326.5(RLBP1):c.684+6G>C	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887653	NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln)	RLBP1 (R234Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 887533	NM_000326.5(RLBP1):c.*403T>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887404	NM_000326.5(RLBP1):c.*212G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887403	NM_000326.5(RLBP1):c.*217A>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 886399	NM_000326.5(RLBP1):c.*256G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 886398	NM_000326.5(RLBP1):c.*301T>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885501	NM_000326.5(RLBP1):c.78A>T (p.Thr26=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885500	NM_000326.5(RLBP1):c.105C>T (p.Gly35=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 885439	NM_000326.5(RLBP1):c.525+14C>T	RLBP1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 885438	NM_000326.5(RLBP1):c.526-4C>T	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885370	NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr)	RLBP1 (I280T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 884503	NM_000326.5(RLBP1):c.626T>C (p.Met209Thr)	RLBP1 (M209T)	Single nucleotide variant (missense variant)	Newfoundland cone-rod dystrophy +3 more	GUncertain significance
Select item 884447	NM_000326.5(RLBP1):c.924C>A (p.Pro308=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 884446	NM_000326.5(RLBP1):c.*135G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 883739	NM_002905.5(RDH5):c.*105A>G	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 882948	NM_002905.5(RDH5):c.928C>G (p.Leu310Val)	BLOC1S1-RDH5, CD63 +1 more (L310V)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 882947	NM_002905.5(RDH5):c.900C>G (p.Ser300Arg)	BLOC1S1-RDH5, CD63 +1 more (S300R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 882946	NM_002905.5(RDH5):c.792G>A (p.Val264=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882945	NM_002905.5(RDH5):c.683G>A (p.Arg228Gln)	BLOC1S1-RDH5, CD63 +1 more (R228Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 881797	NM_002905.5(RDH5):c.537A>G (p.Lys179=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 881796	NM_002905.5(RDH5):c.525C>T (p.Tyr175=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 881795	NM_002905.5(RDH5):c.489C>T (p.Ser163=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 881794	NM_002905.5(RDH5):c.311-12A>G	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881351	NM_002905.5(RDH5):c.224G>A (p.Arg75His)	BLOC1S1-RDH5, RDH5 (R75H)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +1 more	GBenign/Likely benign
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO (V104I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 846922	NM_000322.5(PRPH2):c.454A>G (p.Met152Val)	PRPH2 (M152V)	Single nucleotide variant (missense variant)	PRPH2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 844049	NM_000326.5(RLBP1):c.282del (p.Phe95fs)	RLBP1 (F95fs)	Deletion (frameshift variant)	Pigmentary retinal dystrophy +2 more	GPathogenic
Select item 829822	NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)	RLBP1 (Y251*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 812398	NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)	RLBP1 (I201T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 812393	NM_002905.5(RDH5):c.547G>T (p.Glu183Ter)	RDH5, BLOC1S1-RDH5 (E183*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 812392	NM_002905.5(RDH5):c.412del (p.Met138fs)	BLOC1S1-RDH5, RDH5 (M138fs)	Deletion (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 812391	NM_002905.5(RDH5):c.71_74del (p.Leu24fs)	BLOC1S1-RDH5, RDH5 (L24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 778888	NM_000322.5(PRPH2):c.909C>T (p.Ser303=)	PRPH2	Single nucleotide variant (synonymous variant)	Choroidal dystrophy, central areolar 2 +7 more	GBenign/Likely benign
Select item 720750	NM_000326.5(RLBP1):c.529T>C (p.Leu177=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 636196	NM_002905.5(RDH5):c.208C>T (p.Arg70Trp)	RDH5, BLOC1S1-RDH5 (R70W)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 635161	NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)	BLOC1S1-RDH5, RDH5 (D128N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 623474	NM_002905.5(RDH5):c.-33+2dup	BLOC1S1-RDH5, RDH5	Duplication (splice donor variant)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 594435	NM_000539.3(RHO):c.759G>T (p.Met253Ile)	RHO (M253I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GConflicting classifications of pathogenicity
Select item 523376	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO (S297R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 498453	NM_000322.5(PRPH2):c.888C>T (p.Pro296=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 437965	NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	PRPH2 (G208D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 425006	NM_002905.5(RDH5):c.572G>A (p.Arg191Gln)	RDH5, BLOC1S1-RDH5 +1 more (R191Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 386307	NM_002905.5(RDH5):c.570-8G>C	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 386306	NM_002905.5(RDH5):c.-32-9C>T	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	Pigmentary retinal dystrophy +1 more	GLikely benign
Select item 378479	NM_000326.5(RLBP1):c.684+20C>T	RLBP1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 356785	NM_000322.4(PRPH2):c.-282G>A	PRPH2	Single nucleotide variant	Patterned macular dystrophy 1 +5 more	GUncertain significance
Select item 356784	NM_000322.5(PRPH2):c.-166G>A	PRPH2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356783	NM_000322.5(PRPH2):c.-116C>G	PRPH2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356782	NM_000322.5(PRPH2):c.-60C>T	PRPH2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356781	NM_000322.5(PRPH2):c.-59G>A	PRPH2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356780	NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)	PRPH2 (G31V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 more	GUncertain significance
Select item 356779	NM_000322.5(PRPH2):c.252C>T (p.Asp84=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 356778	NM_000322.5(PRPH2):c.312C>T (p.Ile104=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 356777	NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)	PRPH2 (S217G)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 356776	NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 356775	NM_000322.5(PRPH2):c.*20C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 356774	NM_000322.5(PRPH2):c.*132C>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)	Retinitis pigmentosa +6 more	GBenign

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