"Myriad Genetics, Inc."[submitter] AND "LOC111674472"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	LOC111674472, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1725579	NM_000492.4(CFTR):c.3168del (p.Thr1057fs)	CFTR, LOC111674472 (T1057fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 7162	NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR, LOC111674472 (R1066C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7194	NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 983864	NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 38728	NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7211	NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 39516	NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	CFTR, LOC111674472 (M1101K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1724812	NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)	CFTR, LOC111674472 (L1120fs)	Indel (frameshift variant)	Cystic fibrosis	GLikely pathogenic