nested PCR - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664496	NM_000350.3(ABCA4):c.6386+4A>G	ABCA4	Single nucleotide variant (intron variant)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 178282	NM_004415.4(DSP):c.939+1G>A	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 21359	NM_003221.4(TFAP2B):c.601+5G>A	TFAP2B	Single nucleotide variant (intron variant)	Patent ductus arteriosus 2 +1 more	GPathogenic
Select item 8602	NC_000011.10:g.47333189C>T	MYBPC3	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188961	NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	ATM (Q268*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GPathogenic
Select item 16969	NM_000762.5(CYP2A6):c.479T>A (p.Leu160His)	CYP2A6 (L160H)	Single nucleotide variant (missense variant)	Warfarin response +1 more	Gdrug response

ClinVar