"GeneDx"[submitter] AND "HIBCH"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
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 217316	NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	HIBCH (K377*)	Duplication (nonsense +1 more)	not provided +1 more	GLikely pathogenic
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 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 383058	NM_014362.4(HIBCH):c.1038T>A (p.Val346=)	HIBCH	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	Inborn genetic diseases +2 more	GUncertain significance
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 1234077	NM_014362.4(HIBCH):c.1011+11dup	HIBCH	Duplication (intron variant)	not provided	GBenign
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)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GPathogenic/Likely pathogenic
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 1206536	NM_014362.4(HIBCH):c.925A>T (p.Ile309Phe)	HIBCH (I309F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 390256	NM_014362.4(HIBCH):c.882G>A (p.Glu294=)	HIBCH	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 424160	NM_014362.4(HIBCH):c.809+1G>A	HIBCH	Single nucleotide variant (splice donor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +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 1326096	NM_014362.4(HIBCH):c.751-41A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225679	NM_014362.4(HIBCH):c.751-107T>C	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269655	NM_014362.4(HIBCH):c.750+137A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235470	NM_014362.4(HIBCH):c.750+131C>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179305	NM_014362.4(HIBCH):c.750+34A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504876	NM_014362.4(HIBCH):c.750G>A (p.Glu250=)	HIBCH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 382428	NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)	HIBCH (E245D)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +2 more	GBenign
Select item 379987	NM_014362.4(HIBCH):c.663+19G>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GBenign
Select item 1207805	NM_014362.4(HIBCH):c.518-70C>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321686	NM_014362.4(HIBCH):c.518-87A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251709	NM_014362.4(HIBCH):c.518-173C>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290997	NM_014362.4(HIBCH):c.517+85T>C	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380103	NM_014362.4(HIBCH):c.517+15T>A	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +2 more	GBenign
Select item 430548	NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	HIBCH (C163F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 382970	NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)	HIBCH (C163S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 972924	NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)	HIBCH (H153Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1204838	NM_014362.4(HIBCH):c.438+114A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511483	NM_014362.4(HIBCH):c.438+19C>G	HIBCH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 514448	NM_014362.4(HIBCH):c.438+11T>G	HIBCH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386080	NM_014362.4(HIBCH):c.438+9A>T	HIBCH	Single nucleotide variant (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GBenign/Likely benign
Select item 1327379	NM_014362.4(HIBCH):c.386-60dup	HIBCH	Duplication (intron variant)	not provided	GLikely benign
Select item 516951	NM_014362.4(HIBCH):c.385+11del	HIBCH	Deletion (intron variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GBenign
Select item 1145	NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	HIBCH (Y122C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1245370	NM_014362.4(HIBCH):c.305-33dup	HIBCH	Duplication (intron variant)	not provided	GBenign
Select item 1326759	NM_014362.4(HIBCH):c.305-71A>G	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241538	NM_014362.4(HIBCH):c.304+40T>C	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207347	NM_014362.4(HIBCH):c.289G>A (p.Gly97Arg)	HIBCH (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516906	NM_014362.4(HIBCH):c.243T>G (p.Thr81=)	HIBCH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 380559	NM_014362.4(HIBCH):c.214C>T (p.Leu72=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GBenign/Likely benign
Select item 379986	NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)	HIBCH (T46A)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +2 more	GBenign
Select item 208531	NM_014362.4(HIBCH):c.129dup (p.Gly44fs)	HIBCH (G44fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1234470	NM_014362.4(HIBCH):c.79-166G>A	HIBCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 384991	NM_014362.4(HIBCH):c.36-13A>T	HIBCH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1235478	NM_014362.4(HIBCH):c.36-118del	HIBCH	Deletion (intron variant)	not provided	GBenign
Select item 1321811	NM_014362.4(HIBCH):c.35+89C>T	HIBCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422867	NM_014362.4(HIBCH):c.35+8AG[2]	HIBCH	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 379985	NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	HIBCH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 386079	NM_014362.4(HIBCH):c.-11A>G	HIBCH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 380069	NM_014362.4(HIBCH):c.-44C>T	HIBCH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 513609	NM_014362.4(HIBCH):c.-46T>C	HIBCH	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379984	NM_014362.4(HIBCH):c.-48G>A	HIBCH	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1326429	NM_014362.4(HIBCH):c.-73C>T	HIBCH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1326409	NC_000002.12:g.190319940T>C	HIBCH	Single nucleotide variant	not provided	GLikely benign

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Items: 80