C1864446[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 252538	NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	EYS, PHF3 (A2808T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 558163	NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	EYS (F2712fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 444686	NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)	EYS (H2599R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811974	NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro)	EYS (R2583P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 993393	NM_001142800.2(EYS):c.7578+18C>T	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign/Likely benign
Select item 726159	NM_001142800.2(EYS):c.6079-24TC[8]	EYS	Microsatellite (intron variant)	Retinitis pigmentosa 25 +2 more	GBenign/Likely benign
Select item 137256	NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)	EYS (N1902I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 195937	NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	EYS (W1837S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 811908	NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs)	EYS (L1538fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 357711	NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195938	NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	EYS (D1468H)	Single nucleotide variant (missense variant)	EYS-related condition +4 more	GUncertain significance
Select item 93611	NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)	EYS (L1419S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 137247	NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)	EYS (K1365E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 357719	NM_001142800.2(EYS):c.3345A>G (p.Glu1115=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137272	NM_001142800.2(EYS):c.2733T>C (p.Asn911=)	EYS	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 93605	NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)	EYS (L852P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 811665	NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser)	EYS (C690S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GUncertain significance
Select item 811241	NM_001142800.2(EYS):c.2023+14_2023+15dup	EYS	Duplication (intron variant)	not provided +1 more	GBenign
Select item 137267	NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)	EYS (G631S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 137266	NM_001142800.2(EYS):c.1809C>T (p.Val603=)	EYS	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 788995	NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)	EYS (K532N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 137262	NM_001142800.2(EYS):c.1146T>C (p.Asn382=)	EYS	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 137261	NM_001142800.2(EYS):c.359C>T (p.Thr120Met)	EYS (T120M)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign

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Items: 24