"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC111674 - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 194922	NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53638	NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1011536	NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)	CFTR, LOC111674472 (V1022M)	Single nucleotide variant (missense variant)	CFTR-related disorder +1 more	GUncertain significance
Select item 35860	NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 439492	NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	CFTR, LOC111674472 (K1041Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 35863	NM_000492.4(CFTR):c.3139+8A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 439483	NM_000492.4(CFTR):c.3140-33A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	CFTR-related disorder +1 more	GLikely benign
Select item 53670	NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +2 more	GLikely benign
Select item 53684	NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	CFTR, LOC111674472 (G1069R)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	LOC111674472, CFTR (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
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 7194	NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 495930	NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	CFTR, LOC111674472 (Y1092H)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 38728	NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 195464	NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	LOC111674472, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 2453615	NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 286681	NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	LOC111674472, CFTR (F1099L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 697193	NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	CFTR-related disorder +3 more	GLikely benign