ClinVar for PubMed (Select 22344438) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429335	NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)	P3H1 (R214*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic
Select item 235386	NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter)	NLRP14 (K108*)	Single nucleotide variant (nonsense)	Spermatogenic Failure +3 more	GBenign
Select item 207574	NM_000391.4(TPP1):c.509-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Crohn disease +6 more	GConflicting classifications of pathogenicity; association
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 2876	NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)	PCSK9 (Y142*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar