"Mendelics"[submitter] AND "BTD"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801941	NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	BTD (C13F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 373906	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 1899	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	BTD (G14S)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 801942	NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	BTD (C15fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 801943	NM_001370658.1(BTD):c.203del (p.Gln68fs)	BTD (Q68fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 156006	NM_001370658.1(BTD):c.250-15del	BTD	Deletion (intron variant)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 801944	NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	BTD (I88V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 24999	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD (G94V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 25001	NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	BTD (R102G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 38298	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	BTD (A151T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 801945	NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	BTD (C166G +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 801946	NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	BTD (I235M +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 801947	NM_001370658.1(BTD):c.798del (p.Ala267fs)	BTD (A267fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 25047	NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	BTD (I274V)	Single nucleotide variant (missense variant +1 more)	BTD-related condition +3 more	GBenign/Likely benign
Select item 38278	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	BTD (H303R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1900	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD (D424H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1902	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD (Q436H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 25090	NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	BTD (H465Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 801948	NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)	BTD (P489S +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 25103	NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	BTD (D523E)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic

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Items: 20