ClinVar for Gene (Select 28524) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 147557	GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1	LOC112214171, LOC126861891 +44 more	Copy number loss	See cases	GBenign
Select item 146643	GRCh38/hg38 14q11.2(chr14:21854413-22495939)x1	LOC112214171, LOC121838587 +74 more	Copy number loss	See cases	GBenign
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146148	GRCh38/hg38 14q11.2(chr14:21973760-22442515)x1	LOC121838587, LOC130055288 +35 more	Copy number loss	See cases	GBenign
Select item 145806	GRCh38/hg38 14q11.2(chr14:21919243-22511027)x1	LOC112214171, LOC121838587 +85 more	Copy number loss	See cases	GBenign
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 59814	GRCh38/hg38 14q11.2(chr14:22021664-22592708)x1	DAD1, LINC02332 +123 more	Copy number loss	See cases	GBenign
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57497	GRCh38/hg38 14q11.2(chr14:21919243-22442515)x1	LOC121838587, LOC130055288 +38 more	Copy number loss	See cases	GBenign
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic