ClinVar for Gene (Select 5013) - 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 3303722	NM_014562.4(OTX1):c.391G>C (p.Ala131Pro)	OTX1 (A131P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303721	NM_014562.4(OTX1):c.1036C>A (p.Gln346Lys)	OTX1 (Q346K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207453	NM_014562.4(OTX1):c.801G>A (p.Met267Ile)	OTX1 (M267I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207452	NM_014562.4(OTX1):c.787C>G (p.Gln263Glu)	OTX1 (Q263E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207451	NM_014562.4(OTX1):c.481C>T (p.Pro161Ser)	OTX1 (P161S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207450	NM_014562.4(OTX1):c.137C>A (p.Thr46Lys)	OTX1 (T46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062425	GRCh37/hg19 2p15(chr2:63198384-63413573)x1	EHBP1, OTX1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062381	GRCh37/hg19 2p15(chr2:63151172-63361926)x1	EHBP1, OTX1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2477136	NM_014562.4(OTX1):c.841C>T (p.His281Tyr)	OTX1 (H281Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370939	NM_014562.4(OTX1):c.895C>A (p.His299Asn)	OTX1 (H299N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277273	NM_014562.4(OTX1):c.577G>C (p.Val193Leu)	OTX1 (V193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240946	NM_014562.4(OTX1):c.545T>C (p.Ile182Thr)	OTX1 (I182T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240782	NM_014562.4(OTX1):c.503T>G (p.Leu168Arg)	OTX1 (L168R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808338	GRCh37/hg19 2p15(chr2:63069112-63309986)x1	EHBP1, OTX1	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526785	GRCh37/hg19 2p15(chr2:63050380-63473443)	EHBP1, OTX1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1241607	NM_014562.4(OTX1):c.792C>G (p.Leu264=)	OTX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1062698	NC_000002.11:g.(?_62991401)_(64335444_?)dup	EHBP1, MDH1 +5 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 731079	NM_014562.4(OTX1):c.27A>T (p.Pro9=)	OTX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 710892	NM_014562.4(OTX1):c.676G>A (p.Gly226Ser)	OTX1 (G226S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic

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