ClinVar for MedGen (Select 83349) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	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 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 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 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 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 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 1802987	NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)	AIFM1, RAB33A (K23Q +2 more)	Single nucleotide variant (missense variant +2 more)	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 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 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 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
Select item 1501047	NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)	HIBCH (C95S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
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 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 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 1459074	NM_014362.4(HIBCH):c.153A>G (p.Leu51=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1436690	NC_000002.12:g.190246209_190246214del	HIBCH	Deletion	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1420815	NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)	HIBCH (G2R)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1395708	NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)	HIBCH (R4L)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	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 1381380	NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)	HIBCH (I49V)	Single nucleotide variant (missense variant)	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)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1357930	NM_014362.4(HIBCH):c.196C>A (p.Arg66=)	HIBCH	Single nucleotide variant (synonymous variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1333974	NM_014362.4(HIBCH):c.386-1G>C	HIBCH	Single nucleotide variant (splice acceptor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic/Likely pathogenic
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
Select item 1324532	NM_014362.4(HIBCH):c.439-1G>A	HIBCH	Single nucleotide variant (splice acceptor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely pathogenic
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 1067304	NM_014362.4(HIBCH):c.439-2A>G	HIBCH	Single nucleotide variant (splice acceptor variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GConflicting classifications of pathogenicity
Select item 1033287	NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)	HIBCH (R255G)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 1031263	NM_014362.4(HIBCH):c.529G>C (p.Asp177His)	HIBCH (D177H)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 973485	NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)	HIBCH (G211V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 973484	NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)	HIBCH (T143K)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 973483	NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)	HIBCH (R255*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic
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 973469	NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	HIBCH (F118S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GConflicting classifications of pathogenicity
Select item 972925	NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	HIBCH (E279*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic

<< First< Prev

Page of 2