"CBLIF-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3036637	NM_005142.3(CBLIF):c.930T>G (p.Ser310=)	CBLIF	Single nucleotide variant (synonymous variant)	CBLIF-related condition	GLikely benign
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 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 3034563	NM_005142.3(CBLIF):c.276C>T (p.Leu92=)	CBLIF	Single nucleotide variant (synonymous variant)	CBLIF-related condition	GLikely benign
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 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 770216	NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile)	CBLIF (T20I)	Single nucleotide variant (missense variant)	CBLIF-related condition +1 more	GBenign/Likely benign