ClinVar for Gene (Select 28672) - 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	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 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 154878	GRCh38/hg38 14q11.2(chr14:21830995-22324997)x3	LOC121838587, LOC130055288 +37 more	Copy number gain	See cases	GLikely benign
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150810	GRCh38/hg38 14q11.2(chr14:21919182-22398359)x3	LOC121838587, LOC130055288 +33 more	Copy number gain	See cases	GLikely benign
Select item 150434	GRCh38/hg38 14q11.2(chr14:21919182-22201679)x3	LOC121838587, LOC130055288 +21 more	Copy number gain	See cases	GLikely benign
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
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	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +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