List of variants reported as uncertain significance for childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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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: 108

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HGVS	dbSNP	gnomAD frequency
NM_022445.4(TPK1):c.152G>A (p.Arg51His)	rs202038293	0.00010
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro)	rs374946048	0.00010
NM_022445.4(TPK1):c.392G>A (p.Arg131His)	rs147602742	0.00006
NM_022445.4(TPK1):c.664G>A (p.Asp222Asn)	rs368458768	0.00006
NM_022445.4(TPK1):c.164T>C (p.Ile55Thr)	rs373745325	0.00004
NM_022445.4(TPK1):c.230C>T (p.Pro77Leu)	rs145863885	0.00004
NM_022445.4(TPK1):c.259-3T>C	rs763105827	0.00004
NM_022445.4(TPK1):c.10G>A (p.Ala4Thr)	rs766958215	0.00003
NM_022445.4(TPK1):c.127G>A (p.Ala43Thr)	rs756505847	0.00003
NM_022445.4(TPK1):c.169G>A (p.Glu57Lys)	rs200717734	0.00003
NM_022445.4(TPK1):c.365T>C (p.Ile122Thr)	rs547285921	0.00003
NM_022445.4(TPK1):c.371C>T (p.Thr124Ile)	rs754068899	0.00003
NM_022445.4(TPK1):c.677T>A (p.Val226Asp)	rs550639617	0.00003
NM_022445.4(TPK1):c.136G>A (p.Asp46Asn)	rs551699564	0.00002
NM_022445.4(TPK1):c.434C>T (p.Ala145Val)	rs576168961	0.00002
NM_022445.4(TPK1):c.49T>A (p.Leu17Met)	rs1164108275	0.00002
NM_022445.4(TPK1):c.535G>C (p.Glu179Gln)	rs767663147	0.00002
NM_022445.4(TPK1):c.13T>C (p.Phe5Leu)	rs1360207392	0.00001
NM_022445.4(TPK1):c.174A>T (p.Gly58=)	rs1049396049	0.00001
NM_022445.4(TPK1):c.206A>G (p.Asn69Ser)	rs773722179	0.00001
NM_022445.4(TPK1):c.305C>G (p.Thr102Ser)	rs778868865	0.00001
NM_022445.4(TPK1):c.335T>C (p.Ile112Thr)	rs1588880738	0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe)	rs760881424	0.00001
NM_022445.4(TPK1):c.40A>G (p.Thr14Ala)	rs1425413327	0.00001
NM_022445.4(TPK1):c.43+6G>T	rs1167506497	0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu)	rs758949475	0.00001
NM_022445.4(TPK1):c.482T>A (p.Leu161Gln)	rs755359509	0.00001
NM_022445.4(TPK1):c.53A>G (p.Lys18Arg)	rs769583875	0.00001
NM_022445.4(TPK1):c.546G>C (p.Trp182Cys)	rs751636131	0.00001
NM_022445.4(TPK1):c.559C>T (p.Pro187Ser)	rs1441218983	0.00001
NM_022445.4(TPK1):c.566G>A (p.Gly189Glu)	rs2063720083	0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val)	rs747262651	0.00001
NM_022445.4(TPK1):c.706C>G (p.Leu236Val)	rs1431932282	0.00001
NM_022445.4(TPK1):c.92A>C (p.Tyr31Ser)	rs531486319	0.00001
NM_022445.4(TPK1):c.97C>T (p.Arg33Cys)	rs368467309	0.00001
NC_000007.13:g.(?_144094333)_(144150776_?)dup
NC_000007.13:g.(?_144094333)_(144463064_?)dup
NC_000007.13:g.(?_144150638)_(144150776_?)del
NC_000007.13:g.(?_144150638)_(144532695_?)dup
NC_000007.13:g.(?_144245564)_(144245715_?)del
NC_000007.13:g.(?_144245564)_(144380091_?)del
NC_000007.13:g.(?_144320239)_(144320374_?)del
NC_000007.13:g.(?_144462953)_(144463064_?)dup
NC_000007.13:g.(?_144462953)_(144532695_?)dup
NC_000007.13:g.(?_144532633)_(144532695_?)dup
NC_000007.14:g.(?_144453525)_(144453683_?)del
NC_000007.14:g.(?_144453525)_(144453683_?)dup
NC_000007.14:g.(?_144453525)_(144548622_?)dup
NC_000007.14:g.(?_144453525)_(144835622_?)dup
NC_000007.14:g.(?_144765860)_(144765971_?)del
NM_022445.4(TPK1):c.10G>T (p.Ala4Ser)	rs766958215
NM_022445.4(TPK1):c.137A>T (p.Asp46Val)
NM_022445.4(TPK1):c.151C>T (p.Arg51Cys)	rs761924102
NM_022445.4(TPK1):c.152G>T (p.Arg51Leu)
NM_022445.4(TPK1):c.157T>C (p.Tyr53His)
NM_022445.4(TPK1):c.160_162del (p.Asp54del)	rs2082412299
NM_022445.4(TPK1):c.164T>A (p.Ile55Asn)	rs373745325
NM_022445.4(TPK1):c.17C>T (p.Thr6Ile)	rs1796682677
NM_022445.4(TPK1):c.202A>G (p.Ile68Val)	rs2078415890
NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)
NM_022445.4(TPK1):c.223A>G (p.Ile75Val)	rs960990842
NM_022445.4(TPK1):c.22T>A (p.Leu8Met)	rs763434100
NM_022445.4(TPK1):c.239G>A (p.Arg80Lys)	rs749455380
NM_022445.4(TPK1):c.250G>A (p.Ala84Thr)
NM_022445.4(TPK1):c.259G>A (p.Gly87Arg)	rs1174570973
NM_022445.4(TPK1):c.263G>A (p.Cys88Tyr)
NM_022445.4(TPK1):c.277A>C (p.Thr93Pro)
NM_022445.4(TPK1):c.293A>C (p.His98Pro)
NM_022445.4(TPK1):c.334A>G (p.Ile112Val)	rs2151156040
NM_022445.4(TPK1):c.337G>A (p.Glu113Lys)	rs1563779902
NM_022445.4(TPK1):c.354G>C (p.Lys118Asn)	rs1045769598
NM_022445.4(TPK1):c.385G>A (p.Ala129Thr)	rs2150829067
NM_022445.4(TPK1):c.394T>C (p.Phe132Leu)	rs2150828894
NM_022445.4(TPK1):c.425T>C (p.Leu142Ser)	rs1265314976
NM_022445.4(TPK1):c.428T>A (p.Phe143Tyr)
NM_022445.4(TPK1):c.43+20G>A
NM_022445.4(TPK1):c.44-3T>C	rs2092460944
NM_022445.4(TPK1):c.441C>A (p.His147Gln)
NM_022445.4(TPK1):c.442A>G (p.Ile148Val)	rs1325977316
NM_022445.4(TPK1):c.463A>G (p.Ile155Val)	rs2150827870
NM_022445.4(TPK1):c.484A>T (p.Ile162Phe)	rs2150827494
NM_022445.4(TPK1):c.501+5G>A	rs2150827132
NM_022445.4(TPK1):c.502-3C>T	rs2129165008
NM_022445.4(TPK1):c.512G>C (p.Arg171Thr)	rs2063726493
NM_022445.4(TPK1):c.518A>C (p.His173Pro)	rs1285011402
NM_022445.4(TPK1):c.530G>T (p.Gly177Val)	rs1588141821
NM_022445.4(TPK1):c.532A>T (p.Met178Leu)	rs2063724454
NM_022445.4(TPK1):c.538G>A (p.Gly180Ser)
NM_022445.4(TPK1):c.562G>C (p.Val188Leu)	rs1385750838
NM_022445.4(TPK1):c.562G>T (p.Val188Phe)
NM_022445.4(TPK1):c.56A>G (p.Tyr19Cys)	rs745721039
NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr)
NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)
NM_022445.4(TPK1):c.614C>T (p.Thr205Ile)
NM_022445.4(TPK1):c.61C>T (p.Leu21Phe)
NM_022445.4(TPK1):c.662A>G (p.Tyr221Cys)	rs750322523
NM_022445.4(TPK1):c.662ACG[3] (p.Asp222dup)	rs2054442370
NM_022445.4(TPK1):c.667G>A (p.Gly223Arg)	rs568804217
NM_022445.4(TPK1):c.676G>A (p.Val226Ile)	rs2128872988
NM_022445.4(TPK1):c.700C>T (p.Pro234Ser)	rs748307256
NM_022445.4(TPK1):c.701C>A (p.Pro234Gln)	rs749295013
NM_022445.4(TPK1):c.704T>C (p.Leu235Pro)	rs2054434904
NM_022445.4(TPK1):c.715A>G (p.Met239Val)
NM_022445.4(TPK1):c.74A>G (p.Asn25Ser)	rs2092459668
NM_022445.4(TPK1):c.79C>T (p.Pro27Ser)
NM_022445.4(TPK1):c.86A>G (p.Asp29Gly)	rs2092459385
NM_022445.4(TPK1):c.92A>G (p.Tyr31Cys)	rs531486319
NM_022445.4(TPK1):c.98G>C (p.Arg33Pro)

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