C1864446[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

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Items: 67

	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)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 865915	NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)	EYS, PHF3 (K3128fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 289313	NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	EYS, PHF3 (N3062fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 558109	NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	EYS, PHF3 (I3056fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865822	NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)	EYS, PHF3 (W3044L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 836062	NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	EYS, PHF3 (G2945E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 550019	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS, PHF3 (T2883fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 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)	not provided +2 more	GPathogenic
Select item 867109	NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)	EYS (A2757P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 632492	NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	EYS (L2704* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 853127	NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	EYS (E2703* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 143112	NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)	EYS (W2640*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 809963	NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	EYS (R2604H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866265	NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)	EYS (T2579fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 357689	NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 867095	NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)	EYS (T2465fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93621	NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	EYS (Y2365*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +3 more	GPathogenic
Select item 281325	NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	EYS (P2265fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 143108	NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	EYS (G2186E)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 208578	NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	EYS (Y2176*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189230	NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	EYS (C2139Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438200	NM_001142800.2(EYS):c.5928-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 425384	NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	EYS (S1915G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 167050	NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)	EYS (T1825N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 438198	NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)	EYS	Indel (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867110	NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)	EYS (S1652*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 195938	NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	EYS (D1468H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 552610	NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	EYS (A1465fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 853292	NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)	EYS (S1400*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866084	NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)	EYS (R1349Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 841931	NM_001142800.2(EYS):c.3568+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 195665	NM_001142800.2(EYS):c.3443+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 195666	NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	EYS (T1084P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 844797	NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)	EYS (C1001*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866396	NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)	EYS (Y988*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 236446	NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	EYS (V944fs)	Deletion (frameshift variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 357723	NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)	EYS (G941V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 866441	NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)	EYS (K885*)	Duplication (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 438194	NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	EYS (Q874*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866582	NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)	EYS (R849C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 836950	NM_001142800.2(EYS):c.2381+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 650440	NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)	EYS (R794*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +3 more	GPathogenic
Select item 194357	NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	EYS (N745S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 194358	NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	EYS (Q732*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 421249	NM_001142800.2(EYS):c.2137+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 811665	NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser)	EYS (C690S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 357732	NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)	EYS (I680T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 438193	NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	EYS (R667H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 522342	NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	EYS (W558*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 619215	NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	EYS (C436*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 236447	NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	EYS (C385*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438211	NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	EYS (S326N)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 865954	NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)	EYS (G323*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 208579	NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	EYS (S294*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 865955	NM_001142800.2(EYS):c.803del (p.Gly268fs)	EYS (G268fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 732960	NM_001142800.2(EYS):c.788A>G (p.His263Arg)	EYS (H263R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 813182	NM_001142800.2(EYS):c.749-1G>C	EYS	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 737220	NM_001142800.2(EYS):c.748+6A>T	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357748	NM_001142800.2(EYS):c.334G>C (p.Val112Leu)	EYS (V112L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866202	NM_001142800.2(EYS):c.32dup (p.Met12fs)	EYS (M12fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 865902	NM_001142800.2(EYS):c.-448+5G>A	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity

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Items: 67