"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25104	NM_001370658.1(BTD):c.-94C>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1895	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD (C13fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38574	NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)	BTD (E44D)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 385308	NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	BTD (Q68E)	Single nucleotide variant (missense variant)	BTD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 439451	NM_001370658.1(BTD):c.248del (p.Lys83fs)	BTD (K83fs)	Deletion (frameshift variant)	not specified	GLikely pathogenic
Select item 723988	NM_001370658.1(BTD):c.252T>C (p.Asp84=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
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 25014	NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	BTD (A142V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 25018	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	BTD (K156N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 92400	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	BTD (R189H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic
Select item 25032	NM_001370658.1(BTD):c.585C>T (p.Leu195=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1330701	NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)	BTD (F212C +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 38281	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	BTD (C225Y)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25037	NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	BTD (I228T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 25052	NM_001370658.1(BTD):c.873del (p.Ser291fs)	BTD (S291fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38570	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	BTD (P371S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GBenign/Likely benign
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 25088	NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency +2 more	GBenign
Select item 617999	NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	BTD (E463*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1330926	NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	BTD (Q491H +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 1897	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD (T512M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1898	NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	BTD (R518C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic

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Items: 23