HIBCH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
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 1250382	NM_014362.4(HIBCH):c.*154A>T	HIBCH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1321705	NM_014362.4(HIBCH):c.*92C>G	HIBCH	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 384211	NM_014362.4(HIBCH):c.*3T>C	HIBCH	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
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 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 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 217316	NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	HIBCH (K377*)	Duplication (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 1467805	NM_014362.4(HIBCH):c.1128del (p.Phe376fs)	HIBCH (F376fs)	Deletion (frameshift variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 424194	NM_014362.4(HIBCH):c.1117AAT[1] (p.Asn374del)	HIBCH (N374del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
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 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 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 664250	NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)	HIBCH (I351M)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 795925	NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 385802	NM_014362.4(HIBCH):c.1046-8C>T	HIBCH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1321780	NM_014362.4(HIBCH):c.1046-124T>A	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287537	NM_014362.4(HIBCH):c.1045+196dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1279360	NM_014362.4(HIBCH):c.1045+196_1045+199dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1265562	NM_014362.4(HIBCH):c.1045+196_1045+197dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1221023	NM_014362.4(HIBCH):c.1045+196_1045+198dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1296507	NM_014362.4(HIBCH):c.1045+141A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296506	NM_014362.4(HIBCH):c.1045+105A>C	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
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 383058	NM_014362.4(HIBCH):c.1038T>A (p.Val346=)	HIBCH	Single nucleotide variant (synonymous variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +2 more	GBenign/Likely benign
Select item 1321813	NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)	HIBCH (V346I)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +2 more	GUncertain significance
Select item 2157052	NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)	HIBCH	Single nucleotide variant (synonymous variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1491325	NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)	HIBCH (G345V)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 208532	NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)	HIBCH (G345S)	Single nucleotide variant (missense variant +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic
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 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 1379552	NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)	HIBCH (R338*)	Single nucleotide variant (nonsense +1 more)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 518029	NM_014362.4(HIBCH):c.1012-10T>G	HIBCH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2020238	NM_014362.4(HIBCH):c.1012-19A>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1234077	NM_014362.4(HIBCH):c.1011+11dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1661424	NM_014362.4(HIBCH):c.1011+20del	HIBCH	Deletion (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GBenign
Select item 2067164	NM_014362.4(HIBCH):c.1011+10dup	HIBCH	Duplication (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 668485	NM_014362.4(HIBCH):c.1011+11A>T	HIBCH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2141605	NM_014362.4(HIBCH):c.1010_1011+3del	HIBCH	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 3105768	NM_014362.4(HIBCH):c.1003G>T (p.Ala335Ser)	HIBCH (A335S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2580229	NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)	HIBCH (R331W)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 1393523	NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)	HIBCH (V325G)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
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 3105770	NM_014362.4(HIBCH):c.960G>C (p.Lys320Asn)	HIBCH (K320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 515763	NM_014362.4(HIBCH):c.957A>G (p.Ser319=)	HIBCH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 187864	NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	HIBCH (G317E)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 2141226	NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)	HIBCH (M315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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	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 1206536	NM_014362.4(HIBCH):c.925A>T (p.Ile309Phe)	HIBCH (I309F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 987063	NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)	HIBCH (T305A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2413095	NM_014362.4(HIBCH):c.892G>A (p.Val298Ile)	HIBCH (V298I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1273405	NM_014362.4(HIBCH):c.892-234T>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248923	NM_014362.4(HIBCH):c.891+165C>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224997	NM_014362.4(HIBCH):c.891+80G>A	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508416	NM_014362.4(HIBCH):c.891+19C>T	HIBCH	Single nucleotide variant (intron variant)	not specified	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 1961553	NM_014362.4(HIBCH):c.891+16T>C	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1492266	NM_014362.4(HIBCH):c.891+1G>A	HIBCH	Single nucleotide variant (splice donor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
Select item 724483	NM_014362.4(HIBCH):c.885A>G (p.Gln295=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GLikely benign
Select item 390256	NM_014362.4(HIBCH):c.882G>A (p.Glu294=)	HIBCH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 430547	NM_014362.4(HIBCH):c.852del (p.Leu284fs)	HIBCH (L284fs)	Deletion (frameshift variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 972925	NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	HIBCH (E279*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic
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 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 488530	NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)	HIBCH (V277E)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 1279632	NM_014362.4(HIBCH):c.810-176G>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266768	NM_014362.4(HIBCH):c.809+146dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1326700	NM_014362.4(HIBCH):c.809+91T>C	HIBCH	Single nucleotide variant (intron variant)	not provided	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 424160	NM_014362.4(HIBCH):c.809+1G>A	HIBCH	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 432402	NM_014362.4(HIBCH):c.808A>G (p.Ser270Gly)	HIBCH (S270G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 235593	NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)	HIBCH (D266N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 642439	NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)	HIBCH (M265T)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 973477	NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)	HIBCH (H264Y)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
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 1332820	NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)	HIBCH (F259L)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic

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