"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438210	NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)	EYS, PHF3 (D2873G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 438209	NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)	EYS, PHF3 (R2790G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 438208	NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)	EYS (G2665E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438242	Single allele	EYS	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 438241	Single allele	EYS, LOC129996683	Deletion	Retinitis pigmentosa	GLikely 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 438207	NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter)	EYS (Q2313*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 438240	NM_001142800.2(EYS):c.6726-2973_6834+548del	EYS	Deletion (splice acceptor variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 438239	Single allele	EYS, LOC113175011	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 438206	NM_001142800.2(EYS):c.6545del (p.Asn2182fs)	EYS (N2182fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 438205	NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter)	EYS (E2168*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 438204	NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)	EYS (L2158P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 438203	NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)	EYS (C2108Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438201	NM_001142800.2(EYS):c.5928-3_5928-1del	EYS	Deletion (splice acceptor variant)	not provided	GPathogenic
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 195937	NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	EYS (W1837S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438199	NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter)	EYS (S1803*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
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 438197	NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	EYS (R1349*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 438196	NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)	EYS (Q1259*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 438195	NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)	EYS (C992*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 438237	Single allele	EYS	Deletion	Retinitis pigmentosa	GLikely 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 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 438192	NM_001142800.2(EYS):c.1211del (p.Asn404fs)	EYS (N404fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic
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 438202	NM_001142800.2(EYS):c.613C>T (p.Pro205Ser)	EYS (P205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197186	NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	EYS (R164*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 438238	NC_000006.11:g.65133931_65156120dup	EYS	Duplication	Retinitis pigmentosa	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29