C1970163[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 557608	NM_014249.4(NR2E3):c.183C>T (p.Ile61=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided +3 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 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
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 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 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 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 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 143147	NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	NR2E3 (R122C)	Single nucleotide variant (missense variant)	not provided +4 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 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 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 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 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 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 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 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 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 555217	NM_014249.4(NR2E3):c.747+10G>A	NR2E3	Single nucleotide variant (intron variant)	Retinitis pigmentosa 37 +2 more	GLikely benign
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 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 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 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 95579	NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)	NR2E3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 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

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Items: 32