"Genome-Nilou Lab"[submitter] AND "LOC111674477"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 661390	NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)	CFTR, LOC111674477 (V1421L)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 618957	NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)	CFTR, LOC111674477 (S1426Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 455780	NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)	CFTR, LOC111674477 (S1426F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 824764	NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys)	CFTR, LOC111674477 (N1432K)	Single nucleotide variant (missense variant)	CFTR-related disorder +2 more	GUncertain significance
Select item 558250	NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)	LOC111674477, CFTR (E1433K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53940	NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)	CFTR, LOC111674477 (R1438W)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 632769	NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)	CFTR, LOC111674477 (R1438Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 281792	NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr)	CFTR, LOC111674477 (I1441T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 455781	NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu)	CFTR, LOC111674477 (V1447E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 93157	NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	CFTR-related disorder +4 more	GBenign/Likely benign
Select item 502054	NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)	CFTR, LOC111674477 (R1479K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 909238	NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)	CFTR, LOC111674477 (L1480P)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GUncertain significance