ClinVar for Gene (Select 205251) - ClinVar

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

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340099	Single allele	LOC126806306, LOC129934555 +4 more	Deletion	Nephronophthisis 1	GPathogenic
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2505162	GRCh38/hg38 2q13(chr2:110091573-110212811)	LOC126806305, LOC126806306 +5 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 453297	Single allele	LOC126806306, LOC126806305 +5 more	Deletion	Senior-loken syndrome 3 +1 more	GPathogenic
Select item 438246	Single allele	LOC126806305, LOC126806306 +5 more	Deletion	Cone dystrophy	GLikely pathogenic
Select item 223120	Single allele	LIMS3-LOC440895, LINC01123 +15 more	Duplication	Autism spectrum disorder +1 more	GUncertain significance
Select item 161069	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 161023	GRCh38/hg38 2q13(chr2:110104900-110611314)x3	LIMS4, LINC01106 +11 more	Copy number gain	See cases	GBenign
Select item 153087	GRCh38/hg38 2q13(chr2:110143902-110222910)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152160	GRCh38/hg38 2q13(chr2:110066680-110225841)x0	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GPathogenic
Select item 151434	GRCh38/hg38 2q13(chr2:110104900-110257869)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GLikely benign
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 149342	GRCh38/hg38 2q13(chr2:110104897-110371270)x1	LIMS4, LOC126806305 +8 more	Copy number loss	See cases	GBenign
Select item 149321	GRCh38/hg38 2q13(chr2:110049995-110576905)x3	LIMS4, LINC01106 +12 more	Copy number gain	See cases	GLikely benign
Select item 148909	GRCh38/hg38 2q13(chr2:109975055-110576905)x3	LIMS4, LINC01106 +13 more	Copy number gain	See cases	GLikely benign
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 147196	GRCh38/hg38 2q13(chr2:110025681-110576905)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 146632	GRCh38/hg38 2q13(chr2:110143816-110222824)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign
Select item 146178	GRCh38/hg38 2q13(chr2:110104900-110611314)x1	LIMS4, LINC01106 +11 more	Copy number loss	See cases	GBenign
Select item 145443	GRCh38/hg38 2q13(chr2:110025674-110321488)x3	LOC126806305, LOC126806306 +9 more	Copy number gain	See cases	GBenign
Select item 145407	GRCh38/hg38 2q13(chr2:110104897-110321488)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 144831	GRCh38/hg38 2q13(chr2:109959903-110360538)x3	LIMS3-LOC440895, LIMS4 +12 more	Copy number gain	See cases	GBenign
Select item 144830	GRCh38/hg38 2q13(chr2:110076063-110257869)x3	LOC126806305, LOC126806306 +6 more	Copy number gain	See cases	GBenign
Select item 144426	GRCh38/hg38 2q13(chr2:110104900-110321480)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 59745	GRCh38/hg38 2q13(chr2:110084194-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 59744	GRCh38/hg38 2q13(chr2:110084138-110611314)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 59743	GRCh38/hg38 2q13(chr2:110084138-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 59742	GRCh38/hg38 2q13(chr2:109936618-110452159)x1	LIMS3-LOC440895, LIMS4 +13 more	Copy number loss	See cases	GBenign
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 57545	GRCh38/hg38 2q13(chr2:110025659-110371270)x0	LIMS4, LOC126806305 +10 more	Copy number loss	See cases	GPathogenic
Select item 32161	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign

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: 34