C1864446[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

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Items: 38

	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)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 357689	NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)	EYS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 93621	NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	EYS (Y2365*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 93620	NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)	EYS (R2326Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 357701	NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)	EYS (G2016D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 839972	NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr)	EYS (I1872T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 167051	NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)	EYS (D1662V)	Single nucleotide variant (missense variant)	EYS-related condition +5 more	GConflicting classifications of pathogenicity
Select item 554129	NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)	EYS (P1631S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GUncertain significance
Select item 93615	NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)	EYS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 93614	NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)	EYS (S1517G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 93613	NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)	EYS (R1515W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
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 93612	NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)	EYS (I1451T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
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 93610	NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)	EYS (I1361V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +4 more	GBenign
Select item 93609	NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)	EYS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 93608	NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)	EYS (Q1325E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +4 more	GBenign
Select item 93607	NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 93606	NM_001142800.2(EYS):c.3906C>T (p.His1302=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 137241	NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)	EYS (I1263V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 194931	NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)	EYS (L991F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 357727	NM_001142800.2(EYS):c.2613C>T (p.Asp871=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 357739	NM_001142800.2(EYS):c.1899A>G (p.Gln633=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 551873	NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	EYS (G618S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 137265	NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)	EYS (Q571R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 287293	NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)	EYS (C554S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 137263	NM_001142800.2(EYS):c.1300-3C>T	EYS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 438211	NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	EYS (S326N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 137261	NM_001142800.2(EYS):c.359C>T (p.Thr120Met)	EYS (T120M)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 137260	NM_001142800.2(EYS):c.334G>A (p.Val112Ile)	EYS (V112I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 357749	NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)	EYS (P94Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity

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Items: 38