Related gene-specific medical variations for Gene (Select 167691) - ClinVar

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

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246249	NC_000006.11:g.(?_80202248)_(80203487_?)del	LCA5	Deletion	not provided	GPathogenic
Select item 3241826	NM_001122769.3(LCA5):c.721-2A>T	LCA5	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241825	NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)	LCA5 (S497*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241824	NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter)	LCA5 (S227*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241823	NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)	LCA5 (Y23*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 3241822	NM_001122769.3(LCA5):c.1579del (p.Ile527fs)	LCA5 (I527fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241821	NM_001122769.3(LCA5):c.982del (p.Leu328fs)	LCA5 (L328fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241820	NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro)	LCA5 (S202P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241819	NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)	LCA5 (R476*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241817	NM_001122769.3(LCA5):c.1823del (p.Leu608fs)	LCA5 (L608fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GPathogenic
Select item 3241816	NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)	LCA5 (E236*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3068066	NM_001122769.3(LCA5):c.386del (p.Leu129fs)	LCA5 (L129fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676291	NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)	LCA5 (S621fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676289	NM_001122769.3(LCA5):c.129dup (p.Ala44fs)	LCA5 (A44fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676288	NM_001122769.3(LCA5):c.122del (p.Ser41fs)	LCA5 (S41fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676287	NM_001122769.3(LCA5):c.887del (p.Asn296fs)	LCA5 (N296fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676286	NM_001122769.3(LCA5):c.1099-1G>A	LCA5	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676285	NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)	LCA5 (K134fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676284	NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)	LCA5 (E599*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676283	NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)	LCA5 (E229fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676282	NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)	LCA5 (W412*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676281	NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)	LCA5 (S559fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676280	NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)	LCA5 (L518*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676279	NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)	LCA5 (R517fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676278	NM_001122769.3(LCA5):c.41del (p.Arg14fs)	LCA5 (R14fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676277	NM_001122769.3(LCA5):c.955+1G>A	LCA5	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2574661	NM_181714.4(LCA5):c.1569_1582del (p.His523fs)	LCA5 (H523fs)	Deletion	Leber congenital amaurosis 5	GLikely pathogenic
Select item 1527255	GRCh37/hg19 6q14.1(chr6:80086190-80307416)	LCA5	Copy number loss	not specified	GUncertain significance
Select item 865956	NM_001122769.3(LCA5):c.1794del (p.Glu599fs)	LCA5 (E599fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 814837	GRCh37/hg19 6q14.1(chr6:79999914-80315818)x3	LCA5	Copy number gain	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30