Variants with conflicting interpretations studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Minimum review status of the submission for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase:		Collection method of the submission for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
537	43	0	88	13	0	26	116

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	86	15	1	2
	likely pathogenic	86	0	17	1	3
	uncertain significance	15	17	0	11	2
	likely benign	1	1	11	0	3
	benign	2	3	2	3	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	537	43	0	88	13	0	26	116

All variants with conflicting interpretations #

Total variants: 116

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000155.4(GALT):c.945T>C (p.His315=)	rs61735982	0.03311
NM_000155.4(GALT):c.879C>T (p.Ser293=)	rs115527942	0.00407
NM_000155.4(GALT):c.510C>A (p.Ile170=)	rs61735984	0.00290
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	rs61735983	0.00101
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.687+9G>C	rs117998880	0.00057
NM_000155.4(GALT):c.688-4C>T	rs374014228	0.00014
NM_000155.4(GALT):c.507+12C>T	rs199572263	0.00013
NM_000155.4(GALT):c.378-12G>A	rs151309174	0.00011
NM_000155.4(GALT):c.1128A>T (p.Ala376=)	rs781374930	0.00006
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)	rs143994870	0.00006
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00004
NM_000155.4(GALT):c.270T>C (p.Asp90=)	rs1300102277	0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)	rs367543262	0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=)	rs111033811	0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	rs111033806	0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	rs111033824	0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)	rs111033665	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.377+2dup	rs763662108	0.00001
NM_000155.4(GALT):c.378-7C>T	rs751084584	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)	rs1554709359	0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	rs111033739	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His)	rs111033754	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	rs786204763	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.821-7A>G	rs767337193	0.00001
NM_000155.4(GALT):c.843G>A (p.Lys281=)	rs368298966	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)	rs1410159094	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	rs144993986	0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His)	rs111033802	0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	rs111033808	0.00001
NM_000155.4(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)	rs111033809
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.1048del (p.Thr350fs)	rs775762045
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)	rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs)	rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	rs111033818
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)	rs111033827
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)	rs111033648
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	rs111033648
NM_000155.4(GALT):c.18del (p.Asp7fs)	rs111033638
NM_000155.4(GALT):c.203A>C (p.His68Pro)	rs193922247
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)	rs111033664
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr)	rs771702963
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)	rs111033675
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	rs111033690
NM_000155.4(GALT):c.405G>A (p.Ser135=)	rs141232328
NM_000155.4(GALT):c.424A>G (p.Met142Val)	rs111033692
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.450T>A (p.Val150=)	rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.502G>A (p.Val168Met)	rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.513del (p.Phe171fs)	rs886044409
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	rs111033718
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.564+1G>A	rs111033723
NM_000155.4(GALT):c.572C>T (p.Ala191Val)	rs794727838
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)	rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)	rs1057516720
NM_000155.4(GALT):c.630G>A (p.Lys210=)	rs367543260
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)	rs111033741
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)	rs111033742
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)	rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs)	rs111033838
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)	rs1821176206
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)	rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs)	rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)	rs1821178833
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.820+2T>C
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)	rs111033781
NM_000155.4(GALT):c.904+1G>T	rs367543271
NM_000155.4(GALT):c.905-2A>G	rs398123187
NM_000155.4(GALT):c.912dup (p.Thr305fs)	rs746285782
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.957C>G (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.98G>A (p.Arg33His)	rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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