ClinVar for MedGen (Select 410004) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687199	NM_014249.4(NR2E3):c.352G>C (p.Val118Leu)	NR2E3 (V118L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37	GUncertain significance
Select item 1446484	NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu)	NR2E3 (P124L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1348597	NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn)	NR2E3 (S55N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 1330291	NM_014249.4(NR2E3):c.653A>G (p.Asp218Gly)	NR2E3 (D218G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37	GUncertain significance
Select item 1065725	NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg)	NR2E3 (G51R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1060772	NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr)	NR2E3 (A117T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1001884	NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)	NR2E3 (R48C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 991932	NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)	NR2E3 (E222K)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 970775	NM_014249.4(NR2E3):c.1096G>A (p.Val366Met)	NR2E3 (V366M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 967520	NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu)	NR2E3 (P376L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +3 more	GUncertain significance
Select item 952420	NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)	NR2E3 (V75I)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 932078	NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)	NR2E3 (R334Q)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 887402	NM_014249.4(NR2E3):c.*567C>A	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 887281	NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser)	NR2E3 (G287S)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 884317	NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp)	NR2E3 (R309W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 867206	NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)	NR2E3 (C103*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 856848	NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro)	NR2E3 (A23P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 850215	NM_014249.4(NR2E3):c.953C>T (p.Thr318Met)	NR2E3 (T318M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 844032	NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)	NR2E3 (A256V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GConflicting classifications of pathogenicity
Select item 807279	NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln)	NR2E3 (P376Q)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 795985	NM_014249.4(NR2E3):c.222C>T (p.Ser74=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GLikely benign
Select item 787123	NM_014249.4(NR2E3):c.349+7C>T	NR2E3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 787122	NM_014249.4(NR2E3):c.333G>A (p.Ala111=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 740115	NM_014249.4(NR2E3):c.843C>T (p.Pro281=)	NR2E3	Single nucleotide variant (synonymous variant)	Enhanced S-cone syndrome +3 more	GConflicting classifications of pathogenicity
Select item 558411	NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)	NR2E3 (K57R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 558406	NM_014249.4(NR2E3):c.1101-10T>C	NR2E3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558336	NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)	NR2E3 (T300M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 557608	NM_014249.4(NR2E3):c.183C>T (p.Ile61=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 557451	NM_014249.4(NR2E3):c.571+51C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 557395	NM_014249.4(NR2E3):c.350-26C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 556954	NM_014249.4(NR2E3):c.350-31C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 556622	NM_014249.4(NR2E3):c.571+44C>G	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 556393	NM_014249.4(NR2E3):c.119-6C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 555217	NM_014249.4(NR2E3):c.747+10G>A	NR2E3	Single nucleotide variant (intron variant)	Retinitis pigmentosa 37 +2 more	GLikely benign
Select item 554716	NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)	NR2E3 (A175G)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 554361	NM_014249.4(NR2E3):c.677G>A (p.Arg226His)	NR2E3 (R226H)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 553094	NM_014249.4(NR2E3):c.858C>T (p.Ala286=)	NR2E3	Single nucleotide variant (synonymous variant)	Enhanced S-cone syndrome +2 more	GLikely benign
Select item 552868	NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)	NR2E3 (P399T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GConflicting classifications of pathogenicity
Select item 552858	NM_014249.4(NR2E3):c.450G>A (p.Pro150=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 37 +2 more	GLikely benign
Select item 552825	NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)	NR2E3 (P152S)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 552563	NM_014249.4(NR2E3):c.571+65C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 552215	NM_014249.4(NR2E3):c.45A>G (p.Ala15=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 37 +2 more	GLikely benign
Select item 551852	NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	NR2E3	Deletion (inframe_deletion)	Enhanced S-cone syndrome +3 more	GPathogenic/Likely pathogenic
Select item 551766	NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)	NR2E3 (T333M)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 551741	NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg)	NR2E3 (S354R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 550918	NM_014249.4(NR2E3):c.-10C>T	NR2E3	Single nucleotide variant (5 prime UTR variant)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 497063	NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)	NR2E3 (V302I)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +4 more	GBenign
Select item 445726	NM_014249.4(NR2E3):c.951del (p.Thr318fs)	NR2E3 (T318fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome +2 more	GBenign/Likely benign
Select item 438229	NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	NR2E3 (A256E)	Single nucleotide variant (missense variant)	Goldmann-Favre syndrome +5 more	GPathogenic/Likely pathogenic
Select item 438228	NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	NR2E3 (R104Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 426441	NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu)	NR2E3 (S44L)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 317018	NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)	NR2E3 (E222D)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +5 more	GUncertain significance
Select item 317016	NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)	NR2E3 (A191T)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +4 more	GUncertain significance
Select item 317007	NM_014249.4(NR2E3):c.264G>T (p.Gly88=)	NR2E3	Single nucleotide variant (synonymous variant)	Enhanced S-cone syndrome +4 more	GConflicting classifications of pathogenicity
Select item 286837	NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln)	NR2E3 (R77Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 260368	NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)	NR2E3 (V232I)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GBenign/Likely benign
Select item 191062	NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)	NR2E3 (R309L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 191060	NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)	NR2E3 (R125*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 183143	NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)	NR2E3 (R48fs)	Indel (frameshift variant)	Goldmann-Favre syndrome	GPathogenic
Select item 143147	NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	NR2E3 (R122C)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +4 more	GConflicting classifications of pathogenicity
Select item 143146	NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)	NR2E3 (E121K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95580	NM_014249.4(NR2E3):c.245+8C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +3 more	GBenign/Likely benign
Select item 95579	NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)	NR2E3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 5534	NM_014249.4(NR2E3):c.1034_1038del (p.Ala344_Leu345insTer)	NR2E3	Deletion (nonsense)	Retinitis pigmentosa 37	GPathogenic
Select item 5533	NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	NR2E3 (G56R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GPathogenic/Likely pathogenic
Select item 5532	NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	NR2E3 (R311Q)	Single nucleotide variant (missense variant)	NR2E3-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 5530	NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	NR2E3 (R76Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity

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Items: 68