List of variants reported as uncertain significance for Deficiency of hydroxymethylglutaryl-CoA lyase

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 128

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.*104G>A	rs552915017	0.00185
NM_000191.3(HMGCL):c.*338G>C	rs988536831	0.00018
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)	rs148032473	0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	rs200955062	0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)	rs377359610	0.00011
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)	rs538620811	0.00007
NM_000191.3(HMGCL):c.*414G>A	rs886046310	0.00006
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)	rs142942001	0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)	rs139799938	0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	0.00006
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)	rs147752765	0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)	rs911190800	0.00005
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)	rs756958205	0.00005
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)	rs764292245	0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)	rs368688262	0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)	rs777758512	0.00004
NM_000191.3(HMGCL):c.349-3C>A	rs777476731	0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)	rs746968587	0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)	rs759745527	0.00003
NM_000191.2(HMGCL):c.-41G>C	rs886046315	0.00002
NM_000191.3(HMGCL):c.*366G>A	rs1470010250	0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)	rs373738626	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)	rs905961108	0.00002
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)	rs370010993	0.00002
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)	rs377359510	0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	rs764039230	0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)	rs764360500	0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)	rs764926275	0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)	rs761468576	0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)	rs771024022	0.00002
NM_000191.3(HMGCL):c.*388G>A	rs145874467	0.00001
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)	rs368145582	0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)	rs1570650181	0.00001
NM_000191.3(HMGCL):c.497+4A>G	rs568718845	0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)	rs200189529	0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)	rs759288306	0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)	rs747529727	0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)	rs1303119110	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=)	rs747724373	0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)	rs990313450	0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)	rs764238653	0.00001
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)	rs1025294353	0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)	rs757884073	0.00001
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)	rs750347526	0.00001
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)	rs1391067821	0.00001
NC_000001.10:g.(?_19199339)_(24690861_?)dup
NM_000191.3(HMGCL):c.*290T>C	rs886046311
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
NM_000191.3(HMGCL):c.144+4A>G
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)	rs1638633961
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)	rs373738626
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)	rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)	rs754437215
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)	rs1570652345
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)	rs886046314
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)	rs2148428492
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)	rs2148423771
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)	rs1638619737
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)	rs1244160232
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)	rs1638574066
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
NM_000191.3(HMGCL):c.497+3G>A	rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)	rs2148422419
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)	rs112508527
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)	rs2148420690
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
NM_000191.3(HMGCL):c.60+6T>A
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)	rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)	rs1445870588
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)	rs1570645382
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)	rs886046313
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)	rs767993106
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)	rs745624801
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)	rs1553131921
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)	rs752913892
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)	rs886046312
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)	rs763416473
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
NM_000191.3(HMGCL):c.750+14T>A	rs778868742
NM_000191.3(HMGCL):c.750+6C>T
NM_000191.3(HMGCL):c.751-10_751-9del	rs1638366878
NM_000191.3(HMGCL):c.751-3T>C	rs1356054021
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
NM_000191.3(HMGCL):c.765C>T (p.Val255=)	rs778296169
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)	rs756958205
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)	rs1488079271
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)	rs1220289416
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)	rs750347526
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)	rs1638363983
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)	rs1287973337
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)	rs1638363122
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)	rs1638362250
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)	rs2148415814
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)	rs1638700415
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)	rs1638800964
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)	rs1194563406
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)	rs1557484629
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)	rs1553131326
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)	rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)	rs1303767209

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