ClinVar for MedGen (Select 1823999) - 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 1707571	NM_133638.6(ADAMTS19):c.1957C>T (p.Arg653Ter)	ADAMTS19 (R653*)	Single nucleotide variant (nonsense)	Cardiac valvular dysplasia 2	GPathogenic
Select item 1707570	NM_133638.6(ADAMTS19):c.3538C>T (p.Arg1180Ter)	ADAMTS19 (R1180*)	Single nucleotide variant (nonsense)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 1707569	NM_133638.6(ADAMTS19):c.2003+1G>T	ADAMTS19	Single nucleotide variant (splice donor variant)	Cardiac valvular dysplasia 2	GPathogenic
Select item 1707568	NM_133638.6(ADAMTS19):c.1984C>T (p.Arg662Ter)	ADAMTS19 (R662*)	Single nucleotide variant (nonsense)	Cardiac valvular dysplasia 2	GPathogenic

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