2582[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2968231.	NM_001008216.2(GALE):c.326_328dup GRCh37: Chr1:24122110-24122111 GRCh38: Chr1:23795620-23795621	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2968242.	NM_001008216.2(GALE):c.*327A>T GRCh37: Chr1:24122112 GRCh38: Chr1:23795622	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8759833.	NM_001008216.2(GALE):c.*195T>C GRCh37: Chr1:24122244 GRCh38: Chr1:23795754	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 2968254.	NM_001008216.2(GALE):c.*192T>C GRCh37: Chr1:24122247 GRCh38: Chr1:23795757	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8759845.	NM_001008216.2(GALE):c.*178G>A GRCh37: Chr1:24122261 GRCh38: Chr1:23795771	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8759856.	NM_001008216.2(GALE):c.*158G>A GRCh37: Chr1:24122281 GRCh38: Chr1:23795791	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8769647.	NM_001008216.2(GALE):c.*69G>A GRCh37: Chr1:24122370 GRCh38: Chr1:23795880	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8769658.	NM_001008216.2(GALE):c.*12T>G GRCh37: Chr1:24122427 GRCh38: Chr1:23795937	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 13743029.	NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala) GRCh37: Chr1:24122458 GRCh38: Chr1:23795968	GALE	G343A	UDPglucose-4-epimerase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 250391710.	NM_001008216.2(GALE):c.1004G>A (p.Arg335His) GRCh37: Chr1:24122482 GRCh38: Chr1:23795992	GALE	R335H	GALE-related condition, UDPglucose-4-epimerase deficiency	Likely pathogenic (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208244811.	NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys) GRCh37: Chr1:24122483 GRCh38: Chr1:23795993	GALE	R335C	UDPglucose-4-epimerase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 87696612.	NM_001008216.2(GALE):c.997C>A (p.Leu333Ile) GRCh37: Chr1:24122489 GRCh38: Chr1:23795999	GALE	L333I	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 101451413.	NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr) GRCh37: Chr1:24122497 GRCh38: Chr1:23796007	GALE	C330Y	UDPglucose-4-epimerase deficiency	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 241353414.	NM_001008216.2(GALE):c.989-12G>A GRCh37: Chr1:24122509 GRCh38: Chr1:23796019	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 87696715.	NM_001008216.2(GALE):c.989-13C>T GRCh37: Chr1:24122510 GRCh38: Chr1:23796020	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 203789416.	NM_001008216.2(GALE):c.989-18C>T GRCh37: Chr1:24122515 GRCh38: Chr1:23796025	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 162859917.	NM_001008216.2(GALE):c.988+18C>T GRCh37: Chr1:24122623 GRCh38: Chr1:23796133	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jun 20, 2021)	criteria provided, single submitter
Select item 70826318.	NM_001008216.2(GALE):c.988+7G>A GRCh37: Chr1:24122634 GRCh38: Chr1:23796144	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Oct 25, 2021)	criteria provided, conflicting interpretations
Select item 130381719.	NM_001008216.2(GALE):c.988+5G>A GRCh37: Chr1:24122636 GRCh38: Chr1:23796146	GALE		not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59692120.	NM_001008216.2(GALE):c.979G>C (p.Asp327His) GRCh37: Chr1:24122650 GRCh38: Chr1:23796160	GALE	D327H	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65828021.	NM_001008216.2(GALE):c.973G>A (p.Gly325Arg) GRCh37: Chr1:24122656 GRCh38: Chr1:23796166	GALE	G325R	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 368122.	NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) GRCh37: Chr1:24122673 GRCh38: Chr1:23796183	GALE	G319E	not provided, UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity; other (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 29682623.	NM_001008216.2(GALE):c.955G>C (p.Gly319Arg) GRCh37: Chr1:24122674 GRCh38: Chr1:23796184	GALE	G319R	UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 223144324.	NM_001008216.2(GALE):c.952C>A (p.Leu318Met) GRCh37: Chr1:24122677 GRCh38: Chr1:23796187	GALE	L318M	Inborn genetic diseases	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 368025.	NM_001008216.2(GALE):c.937C>A (p.Leu313Met) GRCh37: Chr1:24122692 GRCh38: Chr1:23796202	GALE	L313M	UDPglucose-4-epimerase deficiency	Pathogenic (Jan 1, 1998)	no assertion criteria provided
Select item 75552026.	NM_001008216.2(GALE):c.936C>T (p.Ser312=) GRCh37: Chr1:24122693 GRCh38: Chr1:23796203	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Mar 16, 2018)	criteria provided, single submitter
Select item 205987227.	NM_001008216.2(GALE):c.933del (p.Ser312fs) GRCh37: Chr1:24122696 GRCh38: Chr1:23796206	GALE	S312fs	UDPglucose-4-epimerase deficiency	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 72776928.	NM_001008216.2(GALE):c.924C>T (p.Tyr308=) GRCh37: Chr1:24122705 GRCh38: Chr1:23796215	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 29682729.	NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) GRCh37: Chr1:24122706 GRCh38: Chr1:23796216	GALE	Y308C	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9289130.	NM_001008216.2(GALE):c.912G>A (p.Val304=) GRCh37: Chr1:24122717 GRCh38: Chr1:23796227	GALE		not specified, not provided, UDPglucose-4-epimerase deficiency	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2117331.	NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) GRCh37: Chr1:24122724 GRCh38: Chr1:23796234	GALE	G302D	UDPglucose-4-epimerase deficiency	not provided	no assertion provided
Select item 150707532.	NM_001008216.2(GALE):c.904G>T (p.Gly302Cys) GRCh37: Chr1:24122725 GRCh38: Chr1:23796235	GALE	G302C	UDPglucose-4-epimerase deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 100862933.	NM_001008216.2(GALE):c.899G>A (p.Arg300Gln) GRCh37: Chr1:24122730 GRCh38: Chr1:23796240	GALE	R300Q	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 16712034.	NM_001008216.2(GALE):c.898C>T (p.Arg300Trp) GRCh37: Chr1:24122731 GRCh38: Chr1:23796241	GALE	R300W	not provided	Uncertain significance (Jan 9, 2014)	criteria provided, single submitter
Select item 99235635.	NM_001008216.2(GALE):c.895C>T (p.Arg299Trp) GRCh37: Chr1:24122734 GRCh38: Chr1:23796244	GALE	R299W	not provided	Uncertain significance (Oct 5, 2020)	criteria provided, single submitter
Select item 217530836.	NM_001008216.2(GALE):c.894A>G (p.Ala298=) GRCh37: Chr1:24122735 GRCh38: Chr1:23796245	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 180961637.	NM_001008216.2(GALE):c.889G>A (p.Val297Met) GRCh37: Chr1:24122740 GRCh38: Chr1:23796250	GALE	V297M	not provided	Uncertain significance (Dec 17, 2022)	criteria provided, single submitter
Select item 112775838.	NM_001008216.2(GALE):c.879G>C (p.Pro293=) GRCh37: Chr1:24122750 GRCh38: Chr1:23796260	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 29682839.	NM_001008216.2(GALE):c.879G>A (p.Pro293=) GRCh37: Chr1:24122750 GRCh38: Chr1:23796260	GALE		not provided, not specified, UDPglucose-4-epimerase deficiency	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86193040.	NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) GRCh37: Chr1:24122751 GRCh38: Chr1:23796261	GALE	P293L	not specified, UDPglucose-4-epimerase deficiency	Uncertain significance (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 225682841.	NM_001008216.2(GALE):c.874-1G>T GRCh37: Chr1:24122756 GRCh38: Chr1:23796266	GALE		Inborn genetic diseases	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 87417342.	NM_001008216.2(GALE):c.874-9G>A GRCh37: Chr1:24122764 GRCh38: Chr1:23796274	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 9289043.	NM_001008216.2(GALE):c.873+20C>T GRCh37: Chr1:24122979 GRCh38: Chr1:23796489	GALE		not specified, UDPglucose-4-epimerase deficiency	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29682944.	NM_001008216.2(GALE):c.873+13_873+14insA GRCh37: Chr1:24122985-24122986 GRCh38: Chr1:23796495-23796496	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 40289045.	NM_001008216.2(GALE):c.873+13G>C GRCh37: Chr1:24122986 GRCh38: Chr1:23796496	GALE		UDPglucose-4-epimerase deficiency, not specified	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9288946.	NM_001008216.2(GALE):c.873+13G>A GRCh37: Chr1:24122986 GRCh38: Chr1:23796496	GALE		not specified, not provided, UDPglucose-4-epimerase deficiency	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158412747.	NM_001008216.2(GALE):c.873+7C>T GRCh37: Chr1:24122992 GRCh38: Chr1:23796502	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Dec 8, 2020)	criteria provided, single submitter
Select item 72113648.	NM_001008216.2(GALE):c.873+7C>A GRCh37: Chr1:24122992 GRCh38: Chr1:23796502	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 53173049.	NM_001008216.2(GALE):c.873+6C>T GRCh37: Chr1:24122993 GRCh38: Chr1:23796503	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 28, 2017)	criteria provided, single submitter
Select item 201472850.	NM_001008216.2(GALE):c.873+2T>C GRCh37: Chr1:24122997 GRCh38: Chr1:23796507	GALE		UDPglucose-4-epimerase deficiency	Likely pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 64655751.	NM_001008216.2(GALE):c.873G>A (p.Lys291=) GRCh37: Chr1:24122999 GRCh38: Chr1:23796509	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 229612352.	NM_001008216.2(GALE):c.853G>A (p.Glu285Lys) GRCh37: Chr1:24123019 GRCh38: Chr1:23796529	GALE	E285K	Inborn genetic diseases	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 257728353.	NM_001008216.2(GALE):c.820G>C (p.Gly274Arg) GRCh37: Chr1:24123052 GRCh38: Chr1:23796562	GALE	G274R	not specified	Uncertain significance (Jul 25, 2023)	criteria provided, single submitter
Select item 83841254.	NM_001008216.2(GALE):c.812C>T (p.Thr271Met) GRCh37: Chr1:24123060 GRCh38: Chr1:23796570	GALE	T271M	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147714455.	NM_001008216.2(GALE):c.809G>A (p.Gly270Asp) GRCh37: Chr1:24123063 GRCh38: Chr1:23796573	GALE	G270D	UDPglucose-4-epimerase deficiency	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 257728256.	NM_001008216.2(GALE):c.796A>C (p.Ile266Leu) GRCh37: Chr1:24123076 GRCh38: Chr1:23796586	GALE	I266L	not specified	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 28192257.	NM_001008216.2(GALE):c.796-1G>T GRCh37: Chr1:24123077 GRCh38: Chr1:23796587	GALE		not provided, UDPglucose-4-epimerase deficiency	Pathogenic/Likely pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158484658.	NM_001008216.2(GALE):c.795+8G>C GRCh37: Chr1:24123179 GRCh38: Chr1:23796689	GALE		not provided, UDPglucose-4-epimerase deficiency	Likely benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112375659.	NM_001008216.2(GALE):c.795+7A>C GRCh37: Chr1:24123180 GRCh38: Chr1:23796690	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 130402660.	NM_001008216.2(GALE):c.794G>A (p.Arg265Gln) GRCh37: Chr1:24123188 GRCh38: Chr1:23796698	GALE	R265Q	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19901661.	NM_001008216.2(GALE):c.772C>T (p.Leu258=) GRCh37: Chr1:24123210 GRCh38: Chr1:23796720	GALE		not specified, UDPglucose-4-epimerase deficiency	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 367962.	NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) GRCh37: Chr1:24123212 GRCh38: Chr1:23796722	GALE	K257R	not specified, not provided, UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity; other (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 66168063.	NM_001008216.2(GALE):c.760G>A (p.Ala254Thr) GRCh37: Chr1:24123222 GRCh38: Chr1:23796732	GALE	A254T	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 19901564.	NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) GRCh37: Chr1:24123227 GRCh38: Chr1:23796737	GALE	I252T	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 74580565.	NM_001008216.2(GALE):c.753C>T (p.His251=) GRCh37: Chr1:24123229 GRCh38: Chr1:23796739	GALE		not provided	Likely benign (May 25, 2018)	criteria provided, single submitter
Select item 66465566.	NM_001008216.2(GALE):c.749del (p.Gly250fs) GRCh37: Chr1:24123233 GRCh38: Chr1:23796743	GALE	G250fs	UDPglucose-4-epimerase deficiency	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 238720967.	NM_001008216.2(GALE):c.736G>A (p.Asp246Asn) GRCh37: Chr1:24123246 GRCh38: Chr1:23796756	GALE	D246N	Inborn genetic diseases	Uncertain significance (Jun 30, 2021)	criteria provided, single submitter
Select item 106436068.	NM_001008216.2(GALE):c.728A>C (p.His243Pro) GRCh37: Chr1:24123254 GRCh38: Chr1:23796764	GALE	H243P	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 114765569.	NM_001008216.2(GALE):c.723C>T (p.Tyr241=) GRCh37: Chr1:24123259 GRCh38: Chr1:23796769	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Aug 7, 2019)	criteria provided, single submitter
Select item 2117270.	NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) GRCh37: Chr1:24123267 GRCh38: Chr1:23796777	GALE	R239W	UDPglucose-4-epimerase deficiency	Pathogenic/Likely pathogenic (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96279171.	NM_001008216.2(GALE):c.713T>C (p.Val238Ala) GRCh37: Chr1:24123269 GRCh38: Chr1:23796779	GALE	V238A	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 59668872.	NM_001008216.2(GALE):c.710G>A (p.Gly237Asp) GRCh37: Chr1:24123272 GRCh38: Chr1:23796782	GALE	G237D	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16712173.	NM_001008216.2(GALE):c.709+18G>A GRCh37: Chr1:24123348 GRCh38: Chr1:23796858	GALE		not provided, UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 212638674.	NM_001008216.2(GALE):c.709+2_709+17del GRCh37: Chr1:24123349-24123364 GRCh38: Chr1:23796859-23796874	GALE		UDPglucose-4-epimerase deficiency	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 161548175.	NM_001008216.2(GALE):c.709+15del GRCh37: Chr1:24123351 GRCh38: Chr1:23796861	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 9288876.	NM_001008216.2(GALE):c.709+14C>G GRCh37: Chr1:24123352 GRCh38: Chr1:23796862	GALE		not specified, not provided, UDPglucose-4-epimerase deficiency	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202466577.	NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu) GRCh37: Chr1:24123375-24123376 GRCh38: Chr1:23796885-23796886	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220123078.	NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys) GRCh37: Chr1:24123386 GRCh38: Chr1:23796896	GALE	Y230C	UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 142450679.	NM_001008216.2(GALE):c.668T>C (p.Leu223Pro) GRCh37: Chr1:24123407 GRCh38: Chr1:23796917	GALE	L223P	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 28762380.	NM_001008216.2(GALE):c.659G>C (p.Arg220Pro) GRCh37: Chr1:24123416 GRCh38: Chr1:23796926	GALE	R220P	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59218081.	NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) GRCh37: Chr1:24123417 GRCh38: Chr1:23796927	GALE	R220W	UDPglucose-4-epimerase deficiency, not specified, not provided	Uncertain significance (Jul 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144302282.	NM_001008216.2(GALE):c.652G>A (p.Gly218Arg) GRCh37: Chr1:24123423 GRCh38: Chr1:23796933	GALE	G218R	Inborn genetic diseases, not specified, UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206147983.	NM_001008216.2(GALE):c.651C>T (p.Ile217=) GRCh37: Chr1:24123424 GRCh38: Chr1:23796934	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 29683084.	NM_001008216.2(GALE):c.648G>A (p.Ala216=) GRCh37: Chr1:24123427 GRCh38: Chr1:23796937	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 29683185.	NM_001008216.2(GALE):c.647C>T (p.Ala216Val) GRCh37: Chr1:24123428 GRCh38: Chr1:23796938	GALE	A216V	UDPglucose-4-epimerase deficiency, not provided	Uncertain significance (May 1, 2017)	criteria provided, multiple submitters, no conflicts
Select item 70332186.	NM_001008216.2(GALE):c.643-7C>T GRCh37: Chr1:24123439 GRCh38: Chr1:23796949	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 197977887.	NM_001008216.2(GALE):c.643-15G>C GRCh37: Chr1:24123447 GRCh38: Chr1:23796957	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 244039588.	NM_001008216.2(GALE):c.642+1G>A GRCh37: Chr1:24123523 GRCh38: Chr1:23797033	GALE		UDPglucose-4-epimerase deficiency	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 258162789.	NM_001008216.2(GALE):c.632A>G (p.Tyr211Cys) GRCh37: Chr1:24123534 GRCh38: Chr1:23797044	GALE	Y211C	not specified	Uncertain significance (Aug 10, 2023)	criteria provided, single submitter
Select item 50261390.	NM_001008216.2(GALE):c.629C>T (p.Pro210Leu) GRCh37: Chr1:24123537 GRCh38: Chr1:23797047	GALE	P210L	not provided	Uncertain significance (Jun 29, 2017)	criteria provided, single submitter
Select item 83641891.	NM_001008216.2(GALE):c.611T>C (p.Ile204Thr) GRCh37: Chr1:24123555 GRCh38: Chr1:23797065	GALE	I204T	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 16712292.	NM_001008216.2(GALE):c.602C>T (p.Pro201Leu) GRCh37: Chr1:24123564 GRCh38: Chr1:23797074	GALE	P201L	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 201997493.	NM_001008216.2(GALE):c.563_564del (p.Pro188fs) GRCh37: Chr1:24123602-24123603 GRCh38: Chr1:23797112-23797113	GALE	P188fs	UDPglucose-4-epimerase deficiency	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 195628694.	NM_001008216.2(GALE):c.552C>G (p.Arg184=) GRCh37: Chr1:24123614 GRCh38: Chr1:23797124	GALE		UDPglucose-4-epimerase deficiency	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 16712395.	NM_001008216.2(GALE):c.551G>A (p.Arg184His) GRCh37: Chr1:24123615 GRCh38: Chr1:23797125	GALE	R184H	not provided	Uncertain significance (Apr 30, 2014)	criteria provided, single submitter
Select item 140488796.	NM_001008216.2(GALE):c.550C>T (p.Arg184Cys) GRCh37: Chr1:24123616 GRCh38: Chr1:23797126	GALE	R184C	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 367597.	NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) GRCh37: Chr1:24123618 GRCh38: Chr1:23797128	GALE	L183P	UDPglucose-4-epimerase deficiency	Pathogenic (Sep 1, 1997)	no assertion criteria provided
Select item 59628598.	NM_001008216.2(GALE):c.545T>C (p.Leu182Pro) GRCh37: Chr1:24123621 GRCh38: Chr1:23797131	GALE	L182P	not provided	Uncertain significance (Mar 4, 2018)	criteria provided, single submitter
Select item 151711299.	NM_001008216.2(GALE):c.538G>A (p.Ala180Thr) GRCh37: Chr1:24123628 GRCh38: Chr1:23797138	GALE	A180T	UDPglucose-4-epimerase deficiency, Inborn genetic diseases	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2154087100.	NM_001008216.2(GALE):c.537C>T (p.Asn179=) GRCh37: Chr1:24123629 GRCh38: Chr1:23797139	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter

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