List of variants reported as pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 69

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	rs763494292	0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	rs727503963	0.00004
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs)	rs1409716731	0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	rs1212444447	0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)	rs199587895	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	0.00001
NC_000001.10:g.(?_24122439)_(24134833_?)del
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NC_000001.10:g.(?_24127494)_(24130949_?)del
NC_000001.10:g.(?_24128943)_(24129064_?)del
NC_000001.10:g.(?_24128943)_(24131025_?)del
NC_000001.10:g.(?_24132578)_(24134831_?)del
NC_000001.10:g.(?_24137216)_(24151915_?)del
NC_000001.10:g.(?_24140670)_(24140838_?)del
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.10:g.(?_24146980)_(24147103_?)del
NC_000001.10:g.(?_24146990)_(24151915_?)del
NC_000001.10:g.(?_24151826)_(24151905_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NG_013061.1:g.(9952_12876)_(19725_22136)del
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter)	rs2148425853
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)	rs1638698938
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.208_209del (p.Val70fs)	rs2148424175
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter)	rs2148424154
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
NM_000191.3(HMGCL):c.252+1G>A	rs775218067
NM_000191.3(HMGCL):c.253-2A>G
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)	rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs)	rs1184002840
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)	rs1274176298
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)	rs1638575413
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer)	rs1638575128
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
NM_000191.3(HMGCL):c.497+1dup
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn)	rs1553132209
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)	rs200189529
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)	rs764264834
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	rs112508527
NM_000191.3(HMGCL):c.534del (p.Lys179fs)
NM_000191.3(HMGCL):c.545del (p.Pro182fs)	rs2148420687
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170
NM_000191.3(HMGCL):c.621del (p.Val208fs)	rs2148419158
NM_000191.3(HMGCL):c.658del (p.Ala220fs)
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter)	rs778751712
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
NM_000191.3(HMGCL):c.769del (p.Asp257fs)	rs2148417048
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)	rs121964998
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000191.3(HMGCL):c.874_876+31del
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
NM_000191.3(HMGCL):c.876+1G>C	rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431

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