LOC130005078[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2460909	NM_022772.4(EPS8L2):c.589T>C (p.Ser197Pro)	EPS8L2, LOC130005078 (S197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425710	NM_022772.4(EPS8L2):c.609G>A (p.Gln203=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1616110	NM_022772.4(EPS8L2):c.615G>C (p.Pro205=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534968	NM_022772.4(EPS8L2):c.616G>T (p.Ala206Ser)	EPS8L2, LOC130005078 (A206S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1919312	NM_022772.4(EPS8L2):c.619C>T (p.Pro207Ser)	EPS8L2, LOC130005078 (P207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747955	NM_022772.4(EPS8L2):c.640G>A (p.Gly214Ser)	EPS8L2, LOC130005078 (G214S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2909805	NM_022772.4(EPS8L2):c.641G>A (p.Gly214Asp)	EPS8L2, LOC130005078 (G214D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202202	NM_022772.4(EPS8L2):c.642C>T (p.Gly214=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089967	NM_022772.4(EPS8L2):c.668G>A (p.Arg223His)	EPS8L2, LOC130005078 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031855	NM_022772.4(EPS8L2):c.672G>T (p.Val224=)	LOC130005078, EPS8L2	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3089968	NM_022772.4(EPS8L2):c.685C>T (p.Pro229Ser)	EPS8L2, LOC130005078 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1645042	NM_022772.4(EPS8L2):c.700+10G>A	EPS8L2, LOC130005078	Single nucleotide variant (intron variant)	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

Search results

Items: 21