Related gene-specific medical variations for Gene (Select 8942) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065178	NM_003937.3(KYNU):c.1303G>A (p.Val435Met)	KYNU (V435M)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2	GUncertain significance
Select item 3062414	GRCh37/hg19 2q22.2(chr2:143627015-143881574)x3	KYNU	Copy number gain	not specified	GUncertain significance
Select item 2689339	NM_003937.3(KYNU):c.1041G>A (p.Glu347=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1808793	GRCh37/hg19 2q22.2(chr2:143610406-143881574)x3	KYNU	Copy number gain	not provided	GUncertain significance
Select item 1526907	GRCh37/hg19 2q22.2(chr2:143440277-143686832)	KYNU	Copy number gain	not specified	GUncertain significance
Select item 686427	GRCh37/hg19 2q22.2(chr2:143290896-143804910)x3	KYNU	Copy number gain	not provided	GUncertain significance

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