ClinVar for Gene (Select 26275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242129	NM_014362.4(HIBCH):c.644A>G (p.His215Arg)	HIBCH (H215R)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 3105770	NM_014362.4(HIBCH):c.960G>C (p.Lys320Asn)	HIBCH (K320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105769	NM_014362.4(HIBCH):c.1133C>A (p.Ser378Tyr)	HIBCH (S378Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3105768	NM_014362.4(HIBCH):c.1003G>T (p.Ala335Ser)	HIBCH (A335S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2988187	NM_014362.4(HIBCH):c.150A>G (p.Thr50=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2982707	NM_014362.4(HIBCH):c.663+13A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2979318	NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)	HIBCH (Q334*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic
Select item 2845693	NM_014362.4(HIBCH):c.664-16del	HIBCH	Deletion (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GBenign
Select item 2834183	NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)	HIBCH	Single nucleotide variant (synonymous variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2762029	NM_014362.4(HIBCH):c.78+17G>A	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2751780	NM_014362.4(HIBCH):c.963C>G (p.Thr321=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2698589	NM_014362.4(HIBCH):c.664-18T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2690621	NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)	HIBCH (D254I)	Indel (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 2671599	Single allele	HIBCH	Deletion	not provided	GLikely pathogenic
Select item 2608414	NM_014362.4(HIBCH):c.635T>C (p.Ile212Thr)	HIBCH (I212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2580229	NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)	HIBCH (R331W)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 2540568	NM_014362.4(HIBCH):c.744T>A (p.His248Gln)	HIBCH (H248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504876	NM_014362.4(HIBCH):c.750G>A (p.Glu250=)	HIBCH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2476013	NM_014362.4(HIBCH):c.430A>G (p.Met144Val)	HIBCH (M144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446035	NM_014362.4(HIBCH):c.458A>G (p.His153Arg)	HIBCH (H153R)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2440721	NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)	HIBCH (R186*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 2432450	NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)	HIBCH (S104L)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 2417611	NM_014362.4(HIBCH):c.951G>T (p.Gly317=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2413095	NM_014362.4(HIBCH):c.892G>A (p.Val298Ile)	HIBCH (V298I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395983	NM_014362.4(HIBCH):c.812G>C (p.Cys271Ser)	HIBCH (C271S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303337	NM_014362.4(HIBCH):c.632G>A (p.Gly211Glu)	HIBCH (G211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261249	NM_014362.4(HIBCH):c.352T>C (p.Phe118Leu)	HIBCH (F118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220658	NM_014362.4(HIBCH):c.197G>A (p.Arg66Gln)	HIBCH (R66Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208107	NM_001042519.2(C2orf88):c.138G>C (p.Glu46Asp)	C2orf88, HIBCH (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202180	NM_014362.4(HIBCH):c.518-12A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2198114	NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)	HIBCH (A59S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2196723	NM_014362.4(HIBCH):c.288C>T (p.Ala96=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2189624	NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)	HIBCH (A335V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2176972	NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)	HIBCH (I309V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2170628	NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)	HIBCH (K108N)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2169137	NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)	HIBCH (G288A)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2167143	NM_014362.4(HIBCH):c.751-4A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2163396	NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)	HIBCH (R12K)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2162387	NM_014362.4(HIBCH):c.1012-16C>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2160472	NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)	HIBCH (H343L)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2157052	NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)	HIBCH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 2154249	NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)	HIBCH (K42R)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2141605	NM_014362.4(HIBCH):c.1010_1011+3del	HIBCH	Deletion (splice donor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2141275	NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)	HIBCH (E278K)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2141226	NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)	HIBCH (M315I)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 2135692	NM_014362.4(HIBCH):c.60T>C (p.Asn20=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2129776	NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)	HIBCH (L23Q)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2116831	NM_014362.4(HIBCH):c.831G>A (p.Val277=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2101829	NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)	HIBCH (T19S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2101197	NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)	HIBCH (G380E)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2094045	NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)	HIBCH (I85F)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2091909	NM_014362.4(HIBCH):c.219G>A (p.Lys73=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2088137	NM_014362.4(HIBCH):c.664-2A>G	HIBCH	Single nucleotide variant (splice acceptor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 2067164	NM_014362.4(HIBCH):c.1011+10dup	HIBCH	Duplication (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2047180	NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)	HIBCH (F342L)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2025796	NM_014362.4(HIBCH):c.663+14T>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2020238	NM_014362.4(HIBCH):c.1012-19A>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2012743	NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)	HIBCH (V349L)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 2012005	NM_014362.4(HIBCH):c.79-9T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 2006395	NM_014362.4(HIBCH):c.304+9T>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1999309	NM_014362.4(HIBCH):c.438+4A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1998822	NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)	HIBCH (D206N)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1991646	NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)	HIBCH (A231V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 1985245	NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)	HIBCH (L311R)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 1979125	NM_014362.4(HIBCH):c.594A>T (p.Thr198=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1977673	NM_014362.4(HIBCH):c.517+16T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1961553	NM_014362.4(HIBCH):c.891+16T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1960856	NM_014362.4(HIBCH):c.222G>A (p.Lys74=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1958633	NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)	HIBCH (E238K)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1955098	NM_014362.4(HIBCH):c.79-4A>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1948779	NM_014362.4(HIBCH):c.305-5C>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1938463	NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)	HIBCH (R157*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GPathogenic
Select item 1913338	NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)	HIBCH (A362T)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1902427	NM_014362.4(HIBCH):c.751-5_751-2del	HIBCH	Deletion (splice acceptor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808142	GRCh37/hg19 2q32.2(chr2:190819533-191102271)x3	C2orf88, HIBCH +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1804879	NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)	HIBCH (D287G)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 1802988	NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)	HIBCH (K320E)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1802984	NM_014362.4(HIBCH):c.810-4A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1802983	NM_014362.4(HIBCH):c.1118A>G (p.Asn373Ser)	HIBCH (N373S)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1717490	NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)	HIBCH (N239S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1690654	NM_014362.4(HIBCH):c.917C>T (p.Ser306Phe)	HIBCH (S306F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1661424	NM_014362.4(HIBCH):c.1011+20del	HIBCH	Deletion (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GBenign
Select item 1606408	NM_014362.4(HIBCH):c.312G>A (p.Ser104=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1594744	NM_014362.4(HIBCH):c.550T>C (p.Leu184=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1577767	NM_014362.4(HIBCH):c.809+19C>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1575593	NM_014362.4(HIBCH):c.892-18A>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1571687	NM_014362.4(HIBCH):c.891+18T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1566084	NM_014362.4(HIBCH):c.783T>G (p.Leu261=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1554824	NM_014362.4(HIBCH):c.897T>C (p.Ile299=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1553835	NM_014362.4(HIBCH):c.798C>T (p.Asp266=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1537008	NM_014362.4(HIBCH):c.219+16A>G	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1524349	NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)	HIBCH (T368I)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1522611	NM_014362.4(HIBCH):c.385+2T>A	HIBCH	Single nucleotide variant (splice donor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic

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