"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552129	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Deletion (splice donor variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 1068379	NM_001370658.1(BTD):c.-17+2T>C	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2691456	NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)	BTD (L20P +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 24973	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	BTD (G25R)	Single nucleotide variant (missense variant)	BTD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 38567	NM_001370658.1(BTD):c.176G>A (p.Arg59His)	BTD (R59H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1365614	NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)	BTD	Deletion (inframe_indel +1 more)	Biotinidase deficiency +1 more	GUncertain significance
Select item 156000	NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	BTD (M66R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 24993	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	BTD (Y73C)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 557611	NM_001370658.1(BTD):c.239C>T (p.Ala80Val)	BTD (A80V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1804727	NM_001370658.1(BTD):c.270del (p.Pro91fs)	BTD (P91fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 24999	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD (G94V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 25000	NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)	BTD (N99S +1 more)	Single nucleotide variant (missense variant)	BTD-related condition +2 more	GUncertain significance
Select item 25005	NM_001370658.1(BTD):c.383G>A (p.Arg128His)	BTD (R128H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 25009	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	BTD	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38298	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	BTD (A151T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 25020	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	BTD (C166Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25021	NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	BTD (N175D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25026	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD (V179M)	Single nucleotide variant (missense variant +1 more)	BTD-related condition +2 more	GPathogenic/Likely pathogenic
Select item 458809	NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	BTD (R189C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 38275	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	BTD (Y190C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 381650	NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	BTD (D202N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 156003	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	BTD (T214I)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	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 25040	NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	BTD (I235T)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 2445709	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	BTD (W252*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
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 25048	NM_001370658.1(BTD):c.827T>G (p.Val276Gly)	BTD (V276G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 550822	NM_001370658.1(BTD):c.862A>C (p.Met288Leu)	BTD (M288L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 555546	NM_001370658.1(BTD):c.881A>G (p.His294Arg)	BTD (H294R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 38278	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	BTD (H303R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1878420	NM_001370658.1(BTD):c.920dup (p.Asn307fs)	BTD (N307fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 38570	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	BTD (P371S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 25062	NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	BTD (N382S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 143949	NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	BTD (F383V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 38573	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	BTD	Deletion (inframe_deletion +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25071	NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	BTD (C398S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25073	NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	BTD (C403R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25075	NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	BTD (C404Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558593	NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)	BTD (L417V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GUncertain significance
Select item 1904	NM_000060.2(BTD):c.[1207T>G;1330G>C]	BTD (D424H +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 1900	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD (D424H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2203321	NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)	BTD (G431D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 458806	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	BTD (Y434C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1902	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD (Q436H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25088	NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 25108	NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	BTD (A458T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1903	NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	BTD (N469T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25094	NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	BTD (P477S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 528479	NM_001370658.1(BTD):c.1456C>T (p.Leu486=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency +1 more	GLikely benign
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)	BTD-related condition +3 more	GPathogenic
Select item 2503972	NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)	BTD (D523V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 555845	NM_001370658.1(BTD):c.*159G>A	BTD	Single nucleotide variant (3 prime UTR variant +1 more)	BTD-related condition +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56