ClinVar for PubMed (Select 18507830) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331727	NM_001039.4(SCNN1G):c.564C>A (p.His188Gln)	SCNN1G (H188Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 439084	NM_000492.4(CFTR):c.4243-20A>G	LOC111674477, CFTR	Single nucleotide variant (intron variant)	CFTR-related condition +4 more	GConflicting classifications of pathogenicity
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +7 more	GConflicting classifications of pathogenicity
Select item 209047	NM_000492.3(CFTR):c.[350G>A;1210-12[5]]	CFTR, CFTR-AS1 (R117H)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	CFTR-related condition +6 more	GConflicting classifications of pathogenicity
Select item 8844	NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SCNN1B (S82C)	Single nucleotide variant (missense variant)	SCNN1B-related condition +5 more	GConflicting classifications of pathogenicity
Select item 8843	NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser)	SCNN1B (N288S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 8842	NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr)	SCNN1B (P369T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +4 more	GBenign/Likely benign
Select item 8828	NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	SCNN1G (G183S)	Single nucleotide variant (missense variant)	SCNN1G-related condition +4 more	GBenign/Likely benign
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic