ClinVar for Gene (Select 686) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251587	NM_001370658.1(BTD):c.70_71del (p.Thr24fs)	BTD (T24fs)	Microsatellite (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 3251568	NM_001370658.1(BTD):c.690C>G (p.Phe230Leu)	BTD (F230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3240987	NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)	BTD (Y302* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240986	NM_001370658.1(BTD):c.253_254dup (p.Gln86fs)	BTD (Q107fs +1 more)	Duplication (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 3240985	NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)	BTD (W366*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 3240984	NM_001370658.1(BTD):c.1000del (p.Thr334fs)	BTD (T334fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240983	NM_001370658.1(BTD):c.1334del (p.Gly445fs)	BTD (G445fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240982	NM_001370658.1(BTD):c.887del (p.Pro296fs)	BTD (P296fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240981	NM_001370658.1(BTD):c.-6del	BTD	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240980	NM_001370658.1(BTD):c.683dup (p.Leu229fs)	BTD (L229fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3239709	NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)	BTD (S50fs)	Duplication (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 3234871	NM_001370658.1(BTD):c.91_92del (p.Asp31fs)	BTD (D31fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 3234289	NM_001370658.1(BTD):c.1128T>G (p.Ser376=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135471	NM_001370658.1(BTD):c.1358A>G (p.Gln453Arg)	BTD (Q453R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135470	NM_001370658.1(BTD):c.1181A>C (p.Tyr394Ser)	BTD (Y394S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124832	NM_001349278.2(ANKRD28):c.913C>T (p.Pro305Ser)	ANKRD28, BTD (P275S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124830	NM_001349278.2(ANKRD28):c.905G>A (p.Gly302Glu)	ANKRD28, BTD (G305E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124766	NM_001349278.2(ANKRD28):c.3239C>G (p.Ser1080Cys)	ANKRD28, BTD (S1050C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124746	NM_001349278.2(ANKRD28):c.2863G>T (p.Ala955Ser)	ANKRD28, BTD (A925S +5 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3124723	NM_001349278.2(ANKRD28):c.2757T>A (p.Ser919Arg)	ANKRD28, BTD (S735R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124719	NM_001349278.2(ANKRD28):c.2730T>G (p.Ser910Arg)	ANKRD28, BTD (S726R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124715	NM_001349278.2(ANKRD28):c.2639A>G (p.Asn880Ser)	ANKRD28, BTD (N696S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124708	NM_001349278.2(ANKRD28):c.2633A>C (p.Gln878Pro)	ANKRD28, BTD (Q845P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124705	NM_001349278.2(ANKRD28):c.2557G>A (p.Gly853Arg)	ANKRD28, BTD (G823R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124700	NM_001349278.2(ANKRD28):c.2548G>A (p.Asp850Asn)	ANKRD28, BTD (D820N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124699	NM_001349278.2(ANKRD28):c.2489A>G (p.Asn830Ser)	ANKRD28, BTD (N646S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124671	NM_001349278.2(ANKRD28):c.1991G>A (p.Arg664Gln)	ANKRD28, BTD (R631Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124657	NM_001349278.2(ANKRD28):c.1736C>G (p.Ala579Gly)	ANKRD28, BTD (A493G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124647	NM_001349278.2(ANKRD28):c.1624T>G (p.Ser542Ala)	ANKRD28, BTD (S542A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124641	NM_001349278.2(ANKRD28):c.1588A>T (p.Ile530Phe)	ANKRD28, BTD (I346F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124636	NM_001349278.2(ANKRD28):c.1423G>A (p.Ala475Thr)	ANKRD28, BTD (A442T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124610	NM_001349278.2(ANKRD28):c.1133G>A (p.Arg378Gln)	ANKRD28, BTD (R345Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3053034	NM_001370658.1(BTD):c.250-24A>G	BTD	Single nucleotide variant (intron variant)	BTD-related disorder	GLikely benign
Select item 3030301	NM_001370658.1(BTD):c.662G>A (p.Gly221Asp)	BTD (G221D +1 more)	Single nucleotide variant (missense variant +1 more)	BTD-related disorder	GUncertain significance
Select item 3029062	NM_001370658.1(BTD):c.*3052G>C	BTD	Single nucleotide variant (3 prime UTR variant +1 more)	BTD-related disorder	GLikely benign
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)	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)	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)	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)	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 (T214A)	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)	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)	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)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic

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