ClinVar for MedGen (Select 199598) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25039171.	NM_001008216.2(GALE):c.1004G>A (p.Arg335His) GRCh37: Chr1:24122482 GRCh38: Chr1:23795992	GALE	R335H	UDPglucose-4-epimerase deficiency	Likely pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 24403952.	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 24205143.	NM_001008216.2(GALE):c.172C>T (p.Arg58Cys) GRCh37: Chr1:24125170 GRCh38: Chr1:23798680	GALE	R58C	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24135344.	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 22012305.	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 21753086.	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 21697607.	NM_001008216.2(GALE):c.529-18C>G GRCh37: Chr1:24123655 GRCh38: Chr1:23797165	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 21627448.	NM_001008216.2(GALE):c.290C>T (p.Ser97Leu) GRCh37: Chr1:24124668 GRCh38: Chr1:23798178	GALE	S97L	UDPglucose-4-epimerase deficiency	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 21540879.	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
Select item 214749710.	NM_001008216.2(GALE):c.237+19C>T GRCh37: Chr1:24125086 GRCh38: Chr1:23798596	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 212638611.	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 210466312.	NM_001008216.2(GALE):c.358A>G (p.Lys120Glu) GRCh37: Chr1:24124355 GRCh38: Chr1:23797865	GALE	K120E	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 208397913.	NM_001008216.2(GALE):c.286G>A (p.Glu96Lys) GRCh37: Chr1:24124672 GRCh38: Chr1:23798182	GALE	E96K	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 208244814.	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 206147915.	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 205987216.	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 204097717.	NM_001008216.2(GALE):c.267G>A (p.Ala89=) GRCh37: Chr1:24124691 GRCh38: Chr1:23798201	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 203871018.	NM_001008216.2(GALE):c.529-6C>T GRCh37: Chr1:24123643 GRCh38: Chr1:23797153	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 203789419.	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 202466520.	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 201997421.	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 201472822.	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 198844323.	NM_001008216.2(GALE):c.224G>A (p.Arg75His) GRCh37: Chr1:24125118 GRCh38: Chr1:23798628	GALE	R75H	UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 197977824.	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 197765625.	NM_001008216.2(GALE):c.529-22_535dup GRCh37: Chr1:24123630-24123631 GRCh38: Chr1:23797140-23797141	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 197258626.	NM_001008216.2(GALE):c.493G>C (p.Glu165Gln) GRCh37: Chr1:24124220 GRCh38: Chr1:23797730	GALE	E165Q	UDPglucose-4-epimerase deficiency	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 195628627.	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 194909828.	NM_001008216.2(GALE):c.96C>T (p.Ile32=) GRCh37: Chr1:24125402 GRCh38: Chr1:23798912	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 171400029.	NM_001008216.2(GALE):c.110A>G (p.Asn37Ser) GRCh37: Chr1:24125388 GRCh38: Chr1:23798898	GALE	N37S	UDPglucose-4-epimerase deficiency	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 171065630.	NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys) GRCh37: Chr1:24125418 GRCh38: Chr1:23798928	GALE	Y27C	UDPglucose-4-epimerase deficiency, not provided	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162859931.	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 161548132.	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 158484633.	NM_001008216.2(GALE):c.795+8G>C GRCh37: Chr1:24123179 GRCh38: Chr1:23796689	GALE		UDPglucose-4-epimerase deficiency, not provided	Likely benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158412734.	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 151711235.	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 151172536.	NM_001008216.2(GALE):c.194T>C (p.Met65Thr) GRCh37: Chr1:24125148 GRCh38: Chr1:23798658	GALE	M65T	UDPglucose-4-epimerase deficiency	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 150707537.	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 147714438.	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 144302239.	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 142450640.	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 140878941.	NM_001008216.2(GALE):c.442C>A (p.His148Asn) GRCh37: Chr1:24124271 GRCh38: Chr1:23797781	GALE	H148N	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 140488742.	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 137430243.	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 132134344.	NM_001008216.2(GALE):c.207C>A (p.Asp69Glu) GRCh37: Chr1:24125135 GRCh38: Chr1:23798645	GALE	D69E	UDPglucose-4-epimerase deficiency	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 130402645.	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 130381746.	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 116594247.	NM_001008216.2(GALE):c.237+11G>A GRCh37: Chr1:24125094 GRCh38: Chr1:23798604	GALE		UDPglucose-4-epimerase deficiency	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 115883448.	NM_001008216.2(GALE):c.352-15T>C GRCh37: Chr1:24124376 GRCh38: Chr1:23797886	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 115851949.	NM_001008216.2(GALE):c.237+19C>A GRCh37: Chr1:24125086 GRCh38: Chr1:23798596	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Oct 11, 2020)	criteria provided, single submitter
Select item 114765550.	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 112775851.	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 112375652.	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 106628653.	NM_001008216.2(GALE):c.351+1G>T GRCh37: Chr1:24124606 GRCh38: Chr1:23798116	GALE		UDPglucose-4-epimerase deficiency	Likely pathogenic (Aug 14, 2020)	criteria provided, single submitter
Select item 106436054.	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 102982355.	NM_001008216.2(GALE):c.449C>T (p.Thr150Met) GRCh37: Chr1:24124264 GRCh38: Chr1:23797774	GALE	T150M	UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Apr 24, 2023)	criteria provided, conflicting interpretations
Select item 102558256.	NM_001008216.2(GALE):c.409G>A (p.Gly137Arg) GRCh37: Chr1:24124304 GRCh38: Chr1:23797814	GALE	G137R	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 101451457.	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 100862958.	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 98493259.	NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) GRCh37: Chr1:24125191 GRCh38: Chr1:23798701	GALE	R51W	not provided, UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 96279160.	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 94635261.	NM_001008216.2(GALE):c.187G>C (p.Glu63Gln) GRCh37: Chr1:24125155 GRCh38: Chr1:23798665	GALE	E63Q	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 87701162.	NM_001008216.2(GALE):c.-77+168T>G GRCh37: Chr1:24127034 GRCh38: Chr1:23800544	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87696763.	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 87696664.	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 87696565.	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 87696466.	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 87605467.	NM_001008216.2(GALE):c.-77+205C>G GRCh37: Chr1:24126997 GRCh38: Chr1:23800507	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87605368.	NM_001008216.2(GALE):c.192G>A (p.Glu64=) GRCh37: Chr1:24125150 GRCh38: Chr1:23798660	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87605269.	NM_001008216.2(GALE):c.238-6C>T GRCh37: Chr1:24124726 GRCh38: Chr1:23798236	GALE		UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87605170.	NM_001008216.2(GALE):c.319G>A (p.Val107Ile) GRCh37: Chr1:24124639 GRCh38: Chr1:23798149	GALE	V107I	UDPglucose-4-epimerase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87598571.	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 87598472.	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 87598373.	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 87510574.	NM_001008216.2(GALE):c.529-12C>T GRCh37: Chr1:24123649 GRCh38: Chr1:23797159	GALE		UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 87417375.	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 86193076.	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 85475777.	NM_001008216.2(GALE):c.376A>G (p.Asn126Asp) GRCh37: Chr1:24124337 GRCh38: Chr1:23797847	GALE	N126D	UDPglucose-4-epimerase deficiency, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84500178.	NM_001008216.2(GALE):c.31G>T (p.Ala11Ser) GRCh37: Chr1:24125467 GRCh38: Chr1:23798977	GALE	A11S	UDPglucose-4-epimerase deficiency	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 83841279.	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 83641880.	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 80145881.	NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) GRCh37: Chr1:24124674 GRCh38: Chr1:23798184	GALE	G95D	UDPglucose-4-epimerase deficiency	Conflicting interpretations of pathogenicity (Feb 24, 2022)	criteria provided, conflicting interpretations
Select item 79532582.	NM_001008216.2(GALE):c.492C>T (p.Ile164=) GRCh37: Chr1:24124221 GRCh38: Chr1:23797731	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Sep 28, 2021)	criteria provided, single submitter
Select item 75552083.	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 73936684.	NM_001008216.2(GALE):c.372G>A (p.Val124=) GRCh37: Chr1:24124341 GRCh38: Chr1:23797851	GALE		UDPglucose-4-epimerase deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 72776985.	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 72113686.	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 70826387.	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 70332188.	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 66465589.	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 66168090.	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 65828091.	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 65613092.	NM_001008216.2(GALE):c.488T>G (p.Phe163Cys) GRCh37: Chr1:24124225 GRCh38: Chr1:23797735	GALE	F163C	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 64705693.	NM_001008216.2(GALE):c.13G>T (p.Val5Leu) GRCh37: Chr1:24125485 GRCh38: Chr1:23798995	GALE	V5L	UDPglucose-4-epimerase deficiency	Uncertain significance (Aug 9, 2018)	criteria provided, single submitter
Select item 64655794.	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 59692195.	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 59668896.	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 59668797.	NM_001008216.2(GALE):c.382G>A (p.Val128Met) GRCh37: Chr1:24124331 GRCh38: Chr1:23797841	GALE	V128M	not provided, UDPglucose-4-epimerase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59218098.	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 57288699.	NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) GRCh37: Chr1:24124651 GRCh38: Chr1:23798161	GALE	D103Y	Inborn genetic diseases, UDPglucose-4-epimerase deficiency	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 531730100.	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

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