"Illumina Laboratory Services, Illumina"[submitter] AND "CBLIF"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878166	NM_005142.3(CBLIF):c.*87G>A	CBLIF	Single nucleotide variant (3 prime UTR variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305029	NM_005142.3(CBLIF):c.*56T>G	CBLIF	Single nucleotide variant (3 prime UTR variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 878167	NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser)	CBLIF (P394S)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 788331	NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile)	CBLIF (V380I)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GBenign/Likely benign
Select item 305030	NM_005142.3(CBLIF):c.1107C>T (p.Val369=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 800190	NM_005142.3(CBLIF):c.1074-3T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 879624	NM_005142.3(CBLIF):c.1074-14A>G	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305031	NM_005142.3(CBLIF):c.990C>T (p.Asn330=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency +1 more	GBenign
Select item 305032	NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)	CBLIF (P304S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 305033	NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg)	CBLIF (Q285R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305034	NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn)	CBLIF (K278N)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305035	NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser)	CBLIF (N255S)	Single nucleotide variant (missense variant)	CBLIF-related condition +2 more	GBenign
Select item 879625	NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys)	CBLIF (E192K)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305036	NM_005142.3(CBLIF):c.524T>C (p.Met175Thr)	CBLIF (M175T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305037	NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)	CBLIF (P152L)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GConflicting classifications of pathogenicity
Select item 305038	NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr)	CBLIF (A127T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305039	NM_005142.3(CBLIF):c.371-15C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305040	NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)	CBLIF (M97T)	Single nucleotide variant (missense variant)	CBLIF-related condition +2 more	GConflicting classifications of pathogenicity
Select item 719724	NM_005142.3(CBLIF):c.256+10C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GConflicting classifications of pathogenicity
Select item 305041	NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn)	CBLIF (D83N)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GBenign
Select item 305042	NM_005142.3(CBLIF):c.246C>T (p.Ser82=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency +1 more	GBenign
Select item 879991	NM_005142.3(CBLIF):c.239T>C (p.Met80Thr)	CBLIF (M80T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 632162	NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)	CBLIF (Q78*)	Single nucleotide variant (nonsense)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305043	NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg)	CBLIF (K73R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 618142	NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg)	CBLIF (G65R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 305044	NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)	CBLIF (Y52N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 761936	NM_005142.3(CBLIF):c.138G>A (p.Ser46=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GConflicting classifications of pathogenicity
Select item 305045	NM_005142.3(CBLIF):c.79+3G>A	CBLIF	Single nucleotide variant (intron variant)	CBLIF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 439755	NM_005142.3(CBLIF):c.79+1G>A	CBLIF	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1742	NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)	CBLIF (Q23R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 877195	NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)	CBLIF (L9P)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance

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Items: 31