"EYS-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

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Items: 39

	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 +4 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 25 +4 more	GPathogenic/Likely pathogenic
Select item 2636212	NM_001142800.2(EYS):c.8906A>T (p.Asp2969Val)	EYS, PHF3 (D2969V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EYS-related disorder	GUncertain significance
Select item 1065672	NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	EYS, PHF3 (S2869* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 143113	NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)	EYS (L2671*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 729277	NM_001142800.2(EYS):c.7723+9T>C	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +2 more	GLikely benign
Select item 2902908	NM_001142800.2(EYS):c.6572-8del	EYS	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3054434	NM_001142800.2(EYS):c.6571+3G>A	EYS	Single nucleotide variant (intron variant)	EYS-related disorder	GLikely benign
Select item 731600	NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)	EYS (I2179V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 189230	NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	EYS (C2139Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
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 766522	NM_001142800.2(EYS):c.6009C>T (p.Leu2003=)	EYS	Single nucleotide variant (synonymous variant)	EYS-related disorder +1 more	GLikely benign
Select item 425384	NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	EYS (S1915G)	Single nucleotide variant (missense variant)	EYS-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 721275	NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281813	NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)	EYS (G1779S)	Single nucleotide variant (missense variant)	EYS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 992126	NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)	EYS	Single nucleotide variant (synonymous variant)	EYS-related disorder +1 more	GLikely benign
Select item 167051	NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)	EYS (D1662V)	Single nucleotide variant (missense variant)	EYS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 952148	NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)	EYS (S1652*)	Single nucleotide variant (nonsense)	EYS-related disorder +2 more	GPathogenic
Select item 1116807	NM_001142800.2(EYS):c.4455A>G (p.Arg1485=)	EYS	Single nucleotide variant (synonymous variant)	EYS-related disorder +2 more	GLikely benign
Select item 195938	NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	EYS (D1468H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 560533	NM_001142800.2(EYS):c.3906C>A (p.His1302Gln)	EYS (H1302Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763085	NM_001142800.2(EYS):c.3858C>T (p.Asp1286=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1155350	NM_001142800.2(EYS):c.3657G>T (p.Ser1219=)	EYS	Single nucleotide variant (synonymous variant)	EYS-related disorder +1 more	GLikely benign
Select item 143102	NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)	EYS (N1163K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 195665	NM_001142800.2(EYS):c.3443+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 195666	NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	EYS (T1084P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1102441	NM_001142800.2(EYS):c.2992+7C>A	EYS	Single nucleotide variant (intron variant)	EYS-related disorder +1 more	GLikely benign
Select item 194823	NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	EYS (K938R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 93604	NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)	EYS (Q770P)	Single nucleotide variant (missense variant)	EYS-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 357730	NM_001142800.2(EYS):c.2260-7C>T	EYS	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421249	NM_001142800.2(EYS):c.2137+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 554792	NM_001142800.2(EYS):c.1766+2598del	EYS (Q601fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 2675301	NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)	EYS (F502fs)	Insertion (frameshift variant)	EYS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1170249	NM_001142800.2(EYS):c.1460-5del	EYS	Deletion (intron variant)	EYS-related disorder +1 more	GBenign/Likely benign
Select item 763838	NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)	EYS (C461Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 287292	NM_001142800.2(EYS):c.988G>A (p.Glu330Lys)	EYS (E330K)	Single nucleotide variant (missense variant)	EYS-related disorder +2 more	GBenign
Select item 438211	NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	EYS (S326N)	Single nucleotide variant (missense variant)	EYS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 732960	NM_001142800.2(EYS):c.788A>G (p.His263Arg)	EYS (H263R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 763277	NM_001142800.2(EYS):c.390A>G (p.Leu130=)	EYS	Single nucleotide variant (synonymous variant)	EYS-related disorder +1 more	GLikely benign

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Items: 39