C1864446[trait identifier] AND "Joint Genome Diagnostic Labs from Nijm - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560452	NM_001142800.1(EYS):c.[3906C>A;9405T>A]	EYS, PHF3 (Y3156* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinitis pigmentosa 25	GPathogenic
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 143112	NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)	EYS (W2640*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic
Select item 809963	NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	EYS (R2604H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 658881	NM_001142800.2(EYS):c.7228+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +2 more	GPathogenic
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 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 565297	NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del	EYS	Deletion	Retinitis pigmentosa 25	GPathogenic
Select item 357700	NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)	EYS (P2095L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560459	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS (G2017V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
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 560458	NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs)	EYS (L1723fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
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 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 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 1070198	NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)	EYS (Q1188*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 565296	NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup	EYS, LOC132089415	Duplication	Retinitis pigmentosa 25	GPathogenic
Select item 565294	NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del	EYS, LOC132089415 +1 more	Deletion	Retinitis pigmentosa 25	GPathogenic
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 650440	NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)	EYS (R794*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 1284363	NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)	EYS (Q770*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 565295	NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup	EYS, LOC132089416	Duplication	Retinitis pigmentosa 25	GPathogenic
Select item 194357	NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	EYS (N745S)	Single nucleotide variant (missense variant)	not specified +4 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 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 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 560457	NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter)	EYS (Y500*)	Duplication (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 560451	NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del	EYS, LOC132089417 +11 more	Deletion	Retinitis pigmentosa 25	GPathogenic
Select item 137263	NM_001142800.2(EYS):c.1300-3C>T	EYS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 560455	NM_001142800.2(EYS):c.1185-3C>T	EYS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 560454	NM_001142800.2(EYS):c.1161del (p.Lys387fs)	EYS (K387fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
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
Select item 560453	NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)	EYS (Q35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 47