"GeneDx"[submitter] AND "LOC111674472"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53627	NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	CFTR, LOC111674472 (A1006E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 35860	NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 35861	NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	CFTR, LOC111674472 (Y1032C)	Single nucleotide variant (missense variant)	CFTR-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 619836	NM_000492.4(CFTR):c.3139+42A>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GBenign
Select item 1214782	NM_000492.4(CFTR):c.3139+199A>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695177	NM_000492.4(CFTR):c.3140-92T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GBenign
Select item 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	LOC111674472, CFTR (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR, LOC111674472 (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53688	NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	LOC111674472, CFTR (F1074L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 432801	NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)	LOC111674472, CFTR (W1089C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 495930	NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	CFTR, LOC111674472 (Y1092H)	Single nucleotide variant (missense variant)	not provided +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=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 574132	NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)	CFTR, LOC111674472 (R1097C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity