ClinVar for MedGen (Select 1646806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1175298	NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)	PRPH2 (C250Y)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +1 more	GLikely pathogenic
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 1064590	NM_000322.5(PRPH2):c.581+5G>A	PRPH2	Single nucleotide variant (intron variant)	Patterned macular dystrophy 1	GLikely pathogenic
Select item 1048171	NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)	PRPH2 (Y204fs)	Deletion (frameshift variant)	Patterned macular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 973722	NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)	PRPH2 (R195*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 971980	NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)	PRPH2 (G202E)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely 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 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 812385	NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)	PRPH2 (M265R)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +1 more	GLikely pathogenic
Select item 802215	NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)	PRPH2 (S76*)	Single nucleotide variant (nonsense)	PRPH2-related disorder +1 more	GPathogenic
Select item 802214	NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)	PRPH2 (W246*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1	GPathogenic
Select item 802213	NM_000322.5(PRPH2):c.829-4C>G	PRPH2	Single nucleotide variant (intron variant)	PRPH2-related disorder +1 more	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 626250	NM_000322.5(PRPH2):c.523T>G (p.Phe175Val)	PRPH2 (F175V)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1	GUncertain significance
Select item 623212	NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	PRPH2 (R195Q)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
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 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
Select item 356772	NM_000322.5(PRPH2):c.*154C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
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 356770	NM_000322.5(PRPH2):c.*213A>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356769	NM_000322.5(PRPH2):c.*276G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356768	NM_000322.5(PRPH2):c.*351G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356767	NM_000322.5(PRPH2):c.468_469del	PRPH2	Deletion (3 prime UTR variant)	Patterned macular dystrophy 1 +5 more	GUncertain significance
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 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 356764	NM_000322.5(PRPH2):c.*543G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356763	NM_000322.5(PRPH2):c.*592A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356762	NM_000322.5(PRPH2):c.*762C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356761	NM_000322.5(PRPH2):c.*797G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 356760	NM_000322.5(PRPH2):c.*839G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356759	NM_000322.5(PRPH2):c.*898C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356758	NM_000322.5(PRPH2):c.*917G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356757	NM_000322.5(PRPH2):c.*989G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356756	NM_000322.5(PRPH2):c.*1001C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356755	NM_000322.5(PRPH2):c.*1007C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356754	NM_000322.5(PRPH2):c.*1121A>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356753	NM_000322.5(PRPH2):c.*1230C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356752	NM_000322.5(PRPH2):c.*1299C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356751	NM_000322.5(PRPH2):c.*1313G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
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 356749	NM_000322.5(PRPH2):c.*1375C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356748	NM_000322.5(PRPH2):c.*1408G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356747	NM_000322.5(PRPH2):c.*1524G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356746	NM_000322.5(PRPH2):c.*1534T>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356745	NM_000322.5(PRPH2):c.*1565G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 356744	NM_000322.5(PRPH2):c.*1580C>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356743	NM_000322.5(PRPH2):c.*1687C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 285861	NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)	PRPH2 (R123W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 255826	NM_000322.5(PRPH2):c.801C>T (p.Val267=)	PRPH2	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 167542	NM_000322.5(PRPH2):c.*13C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +8 more	GBenign
Select item 138908	NM_000322.5(PRPH2):c.-11A>C	PRPH2	Single nucleotide variant (5 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GBenign
Select item 138906	NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)	PRPH2 (D338G)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +10 more	GBenign
Select item 138905	NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	PRPH2 (R310K)	Single nucleotide variant (missense variant)	Adult-onset foveomacular vitelliform dystrophy +11 more	GBenign
Select item 138904	NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	PRPH2 (Q304E)	Single nucleotide variant (missense variant)	Retinal dystrophy +10 more	GBenign
Select item 98721	NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	PRPH2 (P313L)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 98713	NM_000322.5(PRPH2):c.828+3A>T	PRPH2	Single nucleotide variant (intron variant)	Cone-rod dystrophy +9 more	GPathogenic
Select item 98702	NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)	PRPH2	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 98692	NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	PRPH2 (C213Y)	Single nucleotide variant (missense variant)	Stargardt disease +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)	Vitelliform macular dystrophy 2 +4 more	GPathogenic/Likely pathogenic
Select item 98666	NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	PRPH2 (Y141C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 98664	NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	PRPH2 (R13W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +7 more	GBenign/Likely benign
Select item 98658	NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	PRPH2	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 98653	NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)	PRPH2 (L45F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GBenign/Likely benign
Select item 92846	NM_000322.5(PRPH2):c.318T>C (p.Val106=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +10 more	GBenign
Select item 13183	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	PRPH2 (R142W)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic

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