Related gene-specific medical variations for Gene (Select 344148) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684719	GRCh37/hg19 2q21.2(chr2:134281507-134588616)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 1526900	GRCh37/hg19 2q21.2(chr2:134240110-134302739)	NCKAP5	Copy number loss	not specified	GUncertain significance
Select item 1526899	GRCh37/hg19 2q21.2(chr2:134056021-134170904)	NCKAP5	Copy number loss	not specified	GUncertain significance
Select item 1526898	GRCh37/hg19 2q21.2(chr2:134039648-134072006)	NCKAP5	Copy number loss	not specified	GUncertain significance
Select item 1526897	GRCh37/hg19 2q21.2(chr2:133928775-134105365)	NCKAP5	Copy number loss	not specified	GUncertain significance
Select item 1341120	GRCh37/hg19 2q21.2(chr2:133933170-134088150)x1	NCKAP5	Copy number loss	not provided	GLikely benign
Select item 1340438	GRCh37/hg19 2q21.2(chr2:133984853-134705923)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 980587	GRCh37/hg19 2q21.2(chr2:133892330-134051863)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 980586	GRCh37/hg19 2q21.2(chr2:134095455-134303747)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 689268	GRCh37/hg19 2q21.2(chr2:134020433-134107384)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 689079	GRCh37/hg19 2q21.2(chr2:134020433-134107384)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 688651	GRCh37/hg19 2q21.2(chr2:134140351-134474330)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 687876	GRCh37/hg19 2q21.2(chr2:134312566-134363549)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 687546	GRCh37/hg19 2q21.2(chr2:133982564-134698220)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 687474	GRCh37/hg19 2q21.2(chr2:134020433-134115804)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 687430	GRCh37/hg19 2q21.2(chr2:133830378-134363549)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 686961	GRCh37/hg19 2q21.2(chr2:133880771-134007799)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 686685	GRCh37/hg19 2q21.2(chr2:134020433-134067132)x1	NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 685061	GRCh37/hg19 2q21.2(chr2:133985423-134707484)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 562573	GRCh37/hg19 2q21.2(chr2:133914887-134258831)x3	NCKAP5	Copy number gain	not provided	GUncertain significance
Select item 562568	GRCh37/hg19 2q21.2(chr2:134274624-134588616)x1	NCKAP5	Copy number loss	not provided	GLikely benign
Select item 562505	GRCh37/hg19 2q21.2(chr2:133569066-133652076)x1	NCKAP5	Copy number loss	not provided	GLikely benign
Select item 393788	GRCh37/hg19 2q21.2(chr2:133497956-133681874)x3	NCKAP5	Copy number gain	See cases	GLikely benign
Select item 226139	GRCh37/hg19 2q21.2(chr2:133927604-133963658)	NCKAP5	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 221792	GRCh37/hg19 2q21.2(chr2:133584471-133902333)x3	NCKAP5	Copy number gain	Premature ovarian failure	GUncertain significance

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Links from Gene

Items: 25