"Revvity Omics, Revvity"[submitter] AND "LOC111674472"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	Obstructive azoospermia +4 more	GConflicting classifications of pathogenicity
Select item 35859	NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	CFTR, LOC111674472 (P1013H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53668	NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	CFTR, LOC111674472 (T1057A)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 53683	NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	CFTR, LOC111674472 (A1067V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 500634	NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)	CFTR, LOC111674472 (Y1092C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 53722	NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	CFTR, LOC111674472 (S1118F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic