Related gene-specific medical variations for Gene (Select 686) - ClinVar

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Items: 61

	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 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 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
Select item 2680347	NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	BTD (E198D)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2680346	NM_001370658.1(BTD):c.799del (p.Ala267fs)	BTD (A267fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2672933	NM_001349278.2(ANKRD28):c.2605T>C (p.Leu869=)	ANKRD28, BTD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653604	NM_001349278.2(ANKRD28):c.784-656G>A	ANKRD28, BTD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653603	NM_001349278.2(ANKRD28):c.*2197C>T	ANKRD28, BTD	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2602492	NM_001349278.2(ANKRD28):c.1658T>C (p.Leu553Pro)	ANKRD28, BTD (L523P +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533189	NM_001349278.2(ANKRD28):c.3134T>C (p.Leu1045Ser)	ANKRD28, BTD (L861S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526608	NM_001349278.2(ANKRD28):c.1592G>T (p.Arg531Leu)	ANKRD28, BTD (R347L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521499	NM_001349278.2(ANKRD28):c.2285T>C (p.Ile762Thr)	ANKRD28, BTD (I578T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2509026	NM_001349278.2(ANKRD28):c.974A>T (p.Asn325Ile)	BTD, ANKRD28 (N328I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507522	NM_012260.4(HACL1):c.8A>G (p.Asp3Gly)	BTD, HACL1 (D3G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486215	NM_001349278.2(ANKRD28):c.3181A>T (p.Ile1061Phe)	ANKRD28, BTD (I1028F +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2484618	NM_001349278.2(ANKRD28):c.1586G>A (p.Gly529Glu)	ANKRD28, BTD (G532E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470298	NM_001349278.2(ANKRD28):c.2447G>A (p.Gly816Glu)	ANKRD28, BTD (G786E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2467017	NM_012260.4(HACL1):c.52A>G (p.Lys18Glu)	BTD, HACL1 (K18E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457386	NM_001349278.2(ANKRD28):c.1225G>T (p.Ala409Ser)	ANKRD28, BTD (A379S +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2439582	NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)	BTD (E487K +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 2439581	NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)	BTD (P372del +1 more)	Microsatellite (inframe_indel +2 more)	Biotinidase deficiency	GUncertain significance
Select item 2435599	NM_001370658.1(BTD):c.1030dup (p.Ile344fs)	BTD (I344fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2435597	NM_001370658.1(BTD):c.1204dup (p.Leu402fs)	BTD (L402fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 2408019	NM_001349278.2(ANKRD28):c.2837G>A (p.Arg946Lys)	ANKRD28, BTD (R762K +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2397298	NM_001349278.2(ANKRD28):c.3140T>C (p.Ile1047Thr)	ANKRD28, BTD (I1014T +5 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2397255	NM_001349278.2(ANKRD28):c.1798G>C (p.Val600Leu)	ANKRD28, BTD (V416L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395183	NM_012260.4(HACL1):c.12T>G (p.Ser4Arg)	BTD, HACL1 (S4R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2393345	NM_001349278.2(ANKRD28):c.1363C>G (p.Leu455Val)	ANKRD28, BTD (L369V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368502	NM_001349278.2(ANKRD28):c.793C>T (p.Pro265Ser)	ANKRD28, BTD (P265S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364080	NM_001349278.2(ANKRD28):c.1918T>G (p.Leu640Val)	ANKRD28, BTD (L456V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355531	NM_001349278.2(ANKRD28):c.1271C>T (p.Ser424Leu)	ANKRD28, BTD (S338L +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2343993	NM_001349278.2(ANKRD28):c.1180G>A (p.Asp394Asn)	ANKRD28, BTD (D364N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343571	NM_001349278.2(ANKRD28):c.2224T>G (p.Cys742Gly)	ANKRD28, BTD (C558G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298916	NM_001349278.2(ANKRD28):c.836A>G (p.Asn279Ser)	ANKRD28, BTD (N249S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2287809	NM_001349278.2(ANKRD28):c.866T>C (p.Ile289Thr)	ANKRD28, BTD (I292T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256691	NM_001349278.2(ANKRD28):c.2300C>G (p.Ala767Gly)	BTD, ANKRD28 (A767G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244901	NM_001349278.2(ANKRD28):c.1126G>A (p.Ala376Thr)	ANKRD28, BTD (A346T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240435	NM_012260.4(HACL1):c.15C>G (p.Asn5Lys)	BTD, HACL1 (N5K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236354	NM_001349278.2(ANKRD28):c.2387A>G (p.Asn796Ser)	ANKRD28, BTD (N766S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2218834	NM_001349278.2(ANKRD28):c.2860G>A (p.Ala954Thr)	ANKRD28, BTD (A770T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211168	NM_001349278.2(ANKRD28):c.2211A>C (p.Gln737His)	ANKRD28, BTD (Q704H +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2206613	NM_001349278.2(ANKRD28):c.2234G>A (p.Arg745Gln)	ANKRD28, BTD (R715Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1701930	NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)	BTD (C225* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 1701928	NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)	BTD (E463*)	Duplication (frameshift variant +2 more)	Biotinidase deficiency	GLikely pathogenic
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 1330058	NM_001370658.1(BTD):c.64G>C (p.Ala22Pro)	BTD (A22P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325381	NM_001370658.1(BTD):c.500del (p.Pro167fs)	BTD (P167fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 1325380	NM_001370658.1(BTD):c.1103dup (p.Asn369fs)	BTD (N369fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 1266847	NM_012260.4(HACL1):c.-73T>C	BTD, HACL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 991774	NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)	BTD (K206E +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 991773	NM_001370658.1(BTD):c.-45A>T	BTD (I6F)	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 930305	NM_001370658.1(BTD):c.249+1G>A	BTD	Single nucleotide variant (splice donor variant)	Biotinidase deficiency	GPathogenic
Select item 830047	NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)	BTD	Deletion (inframe_indel +2 more)	Biotinidase deficiency	GLikely pathogenic

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Links from Gene

Items: 61