Related gene-specific medical variations for Gene (Select 171019) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238775	NM_133638.6(ADAMTS19):c.3107G>A (p.Arg1036His)	ADAMTS19 (R1036H)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 3238751	NM_133638.6(ADAMTS19):c.2423C>T (p.Ala808Val)	ADAMTS19 (A808V)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 3236630	NM_133638.6(ADAMTS19):c.1596G>C (p.Lys532Asn)	ADAMTS19 (K532N)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 1808408	GRCh37/hg19 5q23.3(chr5:128585033-128985379)x1	ADAMTS19	Copy number loss	not provided	GUncertain significance
Select item 1696725	NM_133638.6(ADAMTS19):c.3313-12986del	ADAMTS19	Deletion (intron variant)	ADAMTS19-associated congenital heartdefect	GUncertain significance
Select item 563107	GRCh37/hg19 5q23.3(chr5:128482655-128948203)x1	ADAMTS19	Copy number loss	not provided	GUncertain significance

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