ClinVar for MedGen (Select 1731253) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921164	NM_182948.4(PRKACB):c.1016T>C (p.Ile339Thr)	PRKACB (I280T +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GUncertain significance
Select item 1805125	NM_182948.4(PRKACB):c.404A>T (p.His135Leu)	PRKACB (H135L +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 1687603	NM_182948.4(PRKACB):c.640G>C (p.Asp214His)	PRKACB (D137H +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GUncertain significance
Select item 989459	NM_182948.4(PRKACB):c.403C>A (p.His135Asn)	PRKACB (H88N +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989458	NM_182948.4(PRKACB):c.404A>G (p.His135Arg)	PRKACB (H88R +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989457	NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu)	PRKACB (S54L +11 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989456	NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg)	PRKACB (G235R +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GPathogenic

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