C0220754[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550283	NM_001370658.1(BTD):c.-74G>A	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 558675	NM_001370658.1(BTD):c.-60A>G	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 558577	NM_001370658.1(BTD):c.-59T>C	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 552501	NM_001370658.1(BTD):c.-59T>A	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 555087	NM_001370658.1(BTD):c.-58G>A	BTD	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 552129	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Deletion (splice donor variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 371272	NM_001370658.1(BTD):c.-18A>T	BTD	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 371236	NM_001370658.1(BTD):c.-17+1del	BTD	Deletion (splice donor variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370613	NM_001370658.1(BTD):c.-17+1G>T	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370391	NM_001370658.1(BTD):c.-17+1G>C	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370376	NM_001370658.1(BTD):c.-17+1G>A	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 370847	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	BTD (Y16*)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 550208	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	BTD (L20fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 189072	NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	BTD (L49fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38482	NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	BTD (L51P)	Single nucleotide variant (missense variant)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1905	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	BTD (R79C +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
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 24989	NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	BTD (A62V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 24991	NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)	BTD (L63S)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 24993	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	BTD (Y73C)	Single nucleotide variant (missense variant)	not provided +1 more	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 370921	NM_001370658.1(BTD):c.249+1G>T	BTD	Single nucleotide variant (splice donor variant)	Biotinidase deficiency	GLikely pathogenic
Select item 156006	NM_001370658.1(BTD):c.250-15del	BTD	Deletion (intron variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 551671	NM_001370658.1(BTD):c.250-1G>T	BTD	Single nucleotide variant (splice acceptor variant)	Biotinidase deficiency	GLikely pathogenic
Select item 554090	NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	BTD (Q86* +1 more)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 556687	NM_001370658.1(BTD):c.261T>G (p.Ile87Met)	BTD (I87M +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GUncertain significance
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)	not specified +1 more	GUncertain significance
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 370087	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	BTD (Y106fs)	Duplication (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 556694	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	BTD (W120* +1 more)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25004	NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	BTD (P122T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 373539	NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	BTD (R128C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25005	NM_001370658.1(BTD):c.383G>A (p.Arg128His)	BTD (R128H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 25011	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	BTD (Q136*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 25012	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	BTD (R137C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25014	NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	BTD (A142V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 25017	NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)	BTD (N152S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 528478	NM_001370658.1(BTD):c.527del (p.Thr176fs)	BTD (T176fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25026	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD (V179M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558727	NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)	BTD (V187del)	Microsatellite (inframe_indel +2 more)	Biotinidase deficiency	GUncertain significance
Select item 458809	NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	BTD (R189C)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +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)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25028	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	BTD (R191C)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 25029	NM_001370658.1(BTD):c.572G>A (p.Arg191His)	BTD (R191H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25031	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	BTD (L195F)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 557291	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	BTD (F197fs)	Indel (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 381650	NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	BTD (D202N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 25039	NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	BTD (P233S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
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 551326	NM_001370658.1(BTD):c.721_723del (p.Tyr241del)	BTD (Y241del)	Deletion (inframe_indel +2 more)	Biotinidase deficiency	GUncertain significance
Select item 25045	NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	BTD (L258P)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 554943	NM_001370658.1(BTD):c.795G>C (p.Gln265His)	BTD (Q265H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 379232	NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	BTD (A269V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 25047	NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	BTD (I274V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 550822	NM_001370658.1(BTD):c.862A>C (p.Met288Leu)	BTD (M288L)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GUncertain significance
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 25054	NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)	BTD (G292S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 25055	NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)	BTD (G292D)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
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 554651	NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)	BTD (P296T)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 551149	NM_001370658.1(BTD):c.932_941del (p.His311fs)	BTD (H311fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 553614	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	BTD (I314fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25107	NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)	BTD (N329T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 25057	NM_001370658.1(BTD):c.992del (p.Thr331fs)	BTD (T331fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 550894	NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	BTD (L342*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25059	NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)	BTD (P349L)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 552232	NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	BTD (Q356*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370125	NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	BTD (E357*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 38569	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	BTD (W366*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 371418	NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)	BTD (P371fs)	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)	Biotinidase deficiency +2 more	GUncertain significance
Select item 25065	NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	BTD (T384I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 188805	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	BTD (W389fs)	Indel (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 38577	NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	BTD (G393S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 38573	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	BTD	Deletion (intron variant)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25069	NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	BTD (C398R)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 38593	NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency +2 more	GBenign/Likely benign
Select item 371377	NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)	BTD (E416fs)	Microsatellite (frameshift variant +1 more)	Biotinidase deficiency	GLikely 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 25080	NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	BTD (Y418*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371553	NM_001370658.1(BTD):c.1264del (p.Val422fs)	BTD (V422fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 1900	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD (D424H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 556288	NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)	BTD (G425E)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 25083	NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	BTD (H427Y)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 558367	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	BTD (G431fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 552997	NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)	BTD (Y433*)	Duplication (frameshift variant +2 more)	Biotinidase deficiency	GLikely pathogenic
Select item 458806	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	BTD (Y434C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 550861	NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	BTD (V437L)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 25087	NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)	BTD (C443Y)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 38580	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	BTD (L446fs)	Duplication (intron variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 418710	NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)	BTD (G445C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280333	NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	BTD (C451fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
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

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