ClinVar for MedGen (Select 66323) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 595

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068254	NM_001370658.1(BTD):c.430_431del (p.Arg144fs)	BTD (R144fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3065157	NM_001370658.1(BTD):c.38_44del (p.Cys13fs)	BTD (C13fs)	Deletion (frameshift variant)	Biotinidase deficiency	GUncertain significance
Select item 3023155	NM_001370658.1(BTD):c.870A>T (p.Gly290=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 3021025	NM_001370658.1(BTD):c.456T>C (p.Asn152=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 3018696	NM_001370658.1(BTD):c.-17+12_-17+27dup	BTD	Duplication (intron variant)	Biotinidase deficiency	GLikely benign
Select item 3018596	NM_001370658.1(BTD):c.253G>A (p.Val85Ile)	BTD (V106I +2 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 3009043	NM_001370658.1(BTD):c.399+19C>T	BTD (L140F +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 3009012	NM_001370658.1(BTD):c.1500C>T (p.Phe500=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 3006638	NM_001370658.1(BTD):c.737T>A (p.Val246Asp)	BTD (V246D +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 3002779	NM_001370658.1(BTD):c.249+19A>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2999490	NM_001370658.1(BTD):c.-17+16G>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2996237	NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2990308	NM_001370658.1(BTD):c.867A>G (p.Thr289=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2989876	NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2989851	NM_001370658.1(BTD):c.1479C>G (p.Gly493=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2985346	NM_001370658.1(BTD):c.250-16A>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2979584	NM_001370658.1(BTD):c.250-15T>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2975918	NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)	BTD (S508P +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 2972460	NM_001370658.1(BTD):c.555C>G (p.Thr185=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2971525	NM_001370658.1(BTD):c.1164C>T (p.Val388=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2970767	NM_001370658.1(BTD):c.449T>C (p.Val150Ala)	BTD (V150A +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 2918916	NM_001370658.1(BTD):c.1191C>T (p.Val397=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2918707	NM_001370658.1(BTD):c.125T>C (p.Val42Ala)	BTD (V62A +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2914877	NM_001370658.1(BTD):c.400-16C>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2901302	NM_001370658.1(BTD):c.400-7C>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2896969	NM_001370658.1(BTD):c.975T>C (p.Ile325=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2891267	NM_001370658.1(BTD):c.96T>C (p.His32=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2889657	NM_001370658.1(BTD):c.1257C>T (p.Ala419=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2888977	NM_001370658.1(BTD):c.858G>T (p.Leu286=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2887511	NM_001370658.1(BTD):c.564C>T (p.Asp188=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2886208	NM_001370658.1(BTD):c.471G>A (p.Glu157=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2877395	NM_001370658.1(BTD):c.1257C>A (p.Ala419=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2875947	NM_001370658.1(BTD):c.-1T>C	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2865860	NM_001370658.1(BTD):c.881A>T (p.His294Leu)	BTD (H294L +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2865174	NM_001370658.1(BTD):c.399+8C>T	BTD (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2859442	NM_001370658.1(BTD):c.58C>T (p.Leu20=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2857297	NM_001370658.1(BTD):c.141C>T (p.Ser47=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2854785	NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)	BTD (R5I +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GUncertain significance
Select item 2854137	NM_001370658.1(BTD):c.711C>T (p.Val237=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2853683	NM_001370658.1(BTD):c.624T>C (p.Asp208=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2853522	NM_001370658.1(BTD):c.187T>C (p.Leu63=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2852364	NM_001370658.1(BTD):c.753C>T (p.Ala251=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2852289	NM_001370658.1(BTD):c.1260G>A (p.Leu420=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2848768	NM_001370658.1(BTD):c.1341C>A (p.Gly447=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2848432	NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)	BTD (T234A +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2844549	NM_001370658.1(BTD):c.-16-7del	BTD	Deletion (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2841710	NM_001370658.1(BTD):c.1368A>G (p.Thr456=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2833416	NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)	BTD (P142S +2 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2832442	NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)	BTD (Y516fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2829036	NM_001370658.1(BTD):c.642C>T (p.Thr214=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2822553	NM_001370658.1(BTD):c.-17+20_-17+40dup	BTD	Duplication (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2809139	NM_001370658.1(BTD):c.-16-19T>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2807978	NM_001370658.1(BTD):c.1077C>T (p.His359=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2801766	NM_001370658.1(BTD):c.1434G>A (p.Leu478=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2800574	NM_001370658.1(BTD):c.1404C>A (p.Gly468=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2789154	NM_001370658.1(BTD):c.875G>T (p.Gly292Val)	BTD (G292V +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2784787	NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)	BTD (C140S +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2766321	NM_001370658.1(BTD):c.1197C>T (p.Ser399=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2761753	NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)	BTD (D361fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2753995	NM_001370658.1(BTD):c.411C>A (p.Arg137=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2746492	NM_001370658.1(BTD):c.516C>T (p.Tyr172=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2745501	NM_001370658.1(BTD):c.399+10G>A	BTD (A158T +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2744068	NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)	BTD (Y418H +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2738033	NM_001370658.1(BTD):c.1164C>G (p.Val388=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2734457	NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)	BTD (G517E)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2734456	NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)	BTD (M379I +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2734455	NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)	BTD (G290E)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2734454	NM_001370658.1(BTD):c.836C>T (p.Ala279Val)	BTD (A279V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2734453	NM_001370658.1(BTD):c.710T>A (p.Val237Asp)	BTD (V237D)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2734452	NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)	BTD (P233L)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2734451	NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)	BTD (T244I +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2734450	NM_001370658.1(BTD):c.604G>C (p.Asp202His)	BTD (D202H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2734449	NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)	BTD (E92K +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GPathogenic
Select item 2734448	NM_001370658.1(BTD):c.229G>A (p.Val77Met)	BTD (V77M +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2732704	NM_001370658.1(BTD):c.84C>T (p.Ser28=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2723714	NM_001370658.1(BTD):c.-18A>G	BTD (R15G)	Single nucleotide variant (5 prime UTR variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 2710843	NM_001370658.1(BTD):c.-17+7A>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2706266	NM_001370658.1(BTD):c.699T>C (p.Pro233=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2705956	NM_001370658.1(BTD):c.250-18T>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2705215	NM_001370658.1(BTD):c.846C>T (p.His282=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2704191	NM_001370658.1(BTD):c.1047G>T (p.Pro349=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2699674	NM_001370658.1(BTD):c.897C>T (p.Ser299=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2697667	NM_001370658.1(BTD):c.291A>G (p.Gly97=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2696148	NM_001370658.1(BTD):c.1207del (p.Cys403fs)	BTD (C403fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2694704	NM_001370658.1(BTD):c.177C>G (p.Arg59=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2693745	NM_001370658.1(BTD):c.1530G>A (p.Leu510=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
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 2687878	NM_001370658.1(BTD):c.430del (p.Arg144fs)	BTD (R144fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2680363	NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)	BTD (Q68*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 2680362	NM_001370658.1(BTD):c.-24A>T	BTD (K13*)	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2680361	NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)	BTD (P489R)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2680360	NM_001370658.1(BTD):c.52del (p.Val18fs)	BTD (V18fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2680359	NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	BTD (E26*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 2680358	NM_001370658.1(BTD):c.346del (p.Gln116fs)	BTD (Q116fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 2680357	NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)	BTD (N469S +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2680355	NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)	BTD (Q316* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 2680354	NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)	BTD (Y37*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 2680352	NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	BTD (F108V +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2680350	NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)	BTD (K156* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2680349	NM_001370658.1(BTD):c.167del (p.Leu56fs)	BTD (L56fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic

<< First< Prev

Page of 6