Related gene-specific medical variations for Gene (Select 10002) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677373	NM_014249.4(NR2E3):c.453_465del (p.Pro152fs)	NR2E3 (P152fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677372	NM_014249.4(NR2E3):c.185_186del (p.Tyr62fs)	NR2E3 (Y62fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677371	NM_014249.4(NR2E3):c.119-2A>T	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677370	NM_014249.4(NR2E3):c.1144del (p.Thr382fs)	NR2E3 (T382fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677369	NM_014249.4(NR2E3):c.803G>A (p.Trp268Ter)	NR2E3 (W268*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677368	NM_014249.4(NR2E3):c.298_299del (p.Cys100fs)	NR2E3 (C100fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677367	NM_014249.4(NR2E3):c.771G>A (p.Trp257Ter)	NR2E3 (W257*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677365	NM_014249.4(NR2E3):c.118+1G>A	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677364	NM_014249.4(NR2E3):c.1104del (p.Phe368fs)	NR2E3 (F368fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677363	NM_014249.4(NR2E3):c.572-2A>G	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677362	NM_014249.4(NR2E3):c.359dup (p.Asn120fs)	NR2E3 (N120fs)	Duplication (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677361	NM_014249.4(NR2E3):c.994+2T>C	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677359	NM_014249.4(NR2E3):c.1175del (p.Arg392fs)	NR2E3 (R392fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677358	NM_014249.4(NR2E3):c.509del (p.Gly170fs)	NR2E3 (G170fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677355	NM_014249.4(NR2E3):c.1154_1155del (p.Arg385fs)	NR2E3 (R385fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
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 993593	NM_014249.4(NR2E3):c.458C>T (p.Ala153Val)	NR2E3 (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990923	NM_014249.4(NR2E3):c.119-10T>A	NR2E3	Single nucleotide variant (intron variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 990922	NM_014249.4(NR2E3):c.90C>A (p.Gly30=)	NR2E3	Single nucleotide variant (synonymous variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 990921	NM_014249.4(NR2E3):c.47C>T (p.Ala16Val)	NR2E3 (A16V)	Single nucleotide variant (missense variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 989840	NM_014249.4(NR2E3):c.*2G>A	NR2E3	Single nucleotide variant (3 prime UTR variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 987298	NM_014249.4(NR2E3):c.263G>T (p.Gly88Val)	NR2E3 (G88V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 867180	NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys)	NR2E3 (M400K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 867073	NM_014249.4(NR2E3):c.118+15G>A	NR2E3	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866657	NM_014249.4(NR2E3):c.119-11C>A	NR2E3	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866636	NM_014249.4(NR2E3):c.629C>T (p.Ser210Phe)	NR2E3 (S210F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866463	NM_014249.4(NR2E3):c.748-1G>A	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +1 more	GLikely pathogenic
Select item 866394	NM_014249.4(NR2E3):c.700T>C (p.Trp234Arg)	NR2E3 (W234R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 813055	NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg)	NR2E3 (P188R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic

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Links from Gene

Items: 30