C1864446[trait identifier] AND "Mendelics"[submitter] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EYS-related condition +4 more	GPathogenic/Likely pathogenic
Select item 444685	NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	EYS, PHF3 (G3131A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 849255	NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 841729	NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	EYS, PHF3 (Q3119fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557700	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 289313	NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	EYS, PHF3 (N3062fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 853016	NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	EYS, PHF3 (I3041T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 1500117	NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	EYS, PHF3 (D3028Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 599165	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS, PHF3 (V2944fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 143115	NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 624249	NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	EYS, PHF3 (C2927R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 857139	NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter)	EYS, PHF3 (L2938* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 802231	NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter)	EYS, PHF3 (G2864* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 503517	NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)	EYS, PHF3 (R2849* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 552866	NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93622	NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)	EYS, PHF3 (N2803fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 1685776	NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)	EYS, PHF3 (D2746Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 802232	NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)	EYS (W2524*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 438200	NM_001142800.2(EYS):c.5928-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 537	NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)	EYS (E1953*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 802233	NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)	EYS (W1817*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 802234	NM_001142800.2(EYS):c.5182del (p.Ser1728fs)	EYS (S1728fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 137253	NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)	EYS (D1682Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1685777	NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs)	EYS (C1660fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 802235	NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	EYS (E1551*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 802236	NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)	EYS (R1374*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1685778	NM_001142800.2(EYS):c.4073del (p.Pro1358fs)	EYS (P1358fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 554662	NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)	EYS (T1110S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195666	NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	EYS (T1084P)	Single nucleotide variant (missense variant)	EYS-related condition +3 more	GConflicting classifications of pathogenicity
Select item 802237	NM_001142800.2(EYS):c.2981del (p.Pro994fs)	EYS (P994fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 802238	NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)	EYS (G941fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 802239	NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)	EYS (C916*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 93605	NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)	EYS (L852P)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 194615	NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)	EYS (V834I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 802240	NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs)	EYS (A686fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 551672	NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	EYS (R589G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802241	NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	EYS (N443fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560456	NM_001142800.2(EYS):c.1299+5_1299+8del	EYS	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 872090	NM_001142800.2(EYS):c.35T>C (p.Met12Thr)	EYS (M12T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity

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Items: 42