ClinVar for MedGen (Select 120614) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456831.	NM_000154.2(GALK1):c.686dup (p.His229fs) GRCh37: Chr17:73758891-73758892 GRCh38: Chr17:75762810-75762811	GALK1	H229fs	Deficiency of galactokinase	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 24320232.	NM_000154.2(GALK1):c.658G>A (p.Val220Met) GRCh37: Chr17:73758920 GRCh38: Chr17:75762839	GALK1	V220M	Deficiency of galactokinase	Uncertain significance (Apr 9, 2021)	criteria provided, single submitter
Select item 24224843.	NC_000017.10:g.(?_73754127)_(73754690_?)del GRCh37: Chr17:73754127-73754690	GALK1		Deficiency of galactokinase	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 24224834.	NC_000017.10:g.(?_73758775)_(73761239_?)del GRCh37: Chr17:73758775-73761239	GALK1		Deficiency of galactokinase	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 24224825.	NC_000017.10:g.(?_73759968)_(73761239_?)del GRCh37: Chr17:73759968-73761239	GALK1		Deficiency of galactokinase	Pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 24170366.	NM_000154.2(GALK1):c.356-11T>G GRCh37: Chr17:73759531 GRCh38: Chr17:75763450	GALK1		Deficiency of galactokinase	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 22004847.	NM_000154.2(GALK1):c.123C>A (p.Ile41=) GRCh37: Chr17:73761095 GRCh38: Chr17:75765014	GALK1		Deficiency of galactokinase	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 21989068.	NM_000154.2(GALK1):c.843G>T (p.Val281=) GRCh37: Chr17:73754631 GRCh38: Chr17:75758550	GALK1		Deficiency of galactokinase	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 21977929.	NM_000154.2(GALK1):c.348C>T (p.Tyr116=) GRCh37: Chr17:73759985 GRCh38: Chr17:75763904	GALK1		Deficiency of galactokinase	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 219674910.	NM_000154.2(GALK1):c.903A>G (p.Arg301=) GRCh37: Chr17:73754571 GRCh38: Chr17:75758490	GALK1		Deficiency of galactokinase	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 219571011.	NM_000154.2(GALK1):c.336A>T (p.Gly112=) GRCh37: Chr17:73759997 GRCh38: Chr17:75763916	GALK1		Deficiency of galactokinase	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 216694112.	NM_000154.2(GALK1):c.859C>T (p.Arg287Cys) GRCh37: Chr17:73754615 GRCh38: Chr17:75758534	GALK1	R287C	Deficiency of galactokinase	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 216481313.	NM_000154.2(GALK1):c.270T>G (p.Phe90Leu) GRCh37: Chr17:73760063 GRCh38: Chr17:75763982	GALK1	F90L	Deficiency of galactokinase	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 216109214.	NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter) GRCh37: Chr17:73758870 GRCh38: Chr17:75762789	GALK1	Y236*	Deficiency of galactokinase	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 215969315.	NM_000154.2(GALK1):c.866C>T (p.Ala289Val) GRCh37: Chr17:73754608 GRCh38: Chr17:75758527	GALK1	A289V	Inborn genetic diseases, Deficiency of galactokinase	Uncertain significance (Dec 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 215323716.	NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys) GRCh37: Chr17:73754343 GRCh38: Chr17:75758262	GALK1	T352K	Deficiency of galactokinase	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 214742517.	NM_000154.2(GALK1):c.879C>T (p.Ala293=) GRCh37: Chr17:73754595 GRCh38: Chr17:75758514	GALK1		Deficiency of galactokinase	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 214713218.	NM_000154.2(GALK1):c.826C>T (p.Arg276Trp) GRCh37: Chr17:73754648 GRCh38: Chr17:75758567	GALK1	R276W	Deficiency of galactokinase	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 214455119.	NM_000154.2(GALK1):c.1026C>T (p.Arg342=) GRCh37: Chr17:73754372 GRCh38: Chr17:75758291	GALK1		Deficiency of galactokinase	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 212046920.	NM_000154.2(GALK1):c.476-2A>G GRCh37: Chr17:73759232 GRCh38: Chr17:75763151	GALK1		Deficiency of galactokinase	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 211357521.	NM_000154.2(GALK1):c.295C>T (p.Leu99=) GRCh37: Chr17:73760038 GRCh38: Chr17:75763957	GALK1		Deficiency of galactokinase	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211074822.	NM_000154.2(GALK1):c.837_841dup (p.Val281fs) GRCh37: Chr17:73754632-73754633 GRCh38: Chr17:75758551-75758552	GALK1	V281fs	Deficiency of galactokinase	Pathogenic (Nov 18, 2021)	criteria provided, single submitter
Select item 210104323.	NM_000154.2(GALK1):c.501C>A (p.Ala167=) GRCh37: Chr17:73759205 GRCh38: Chr17:75763124	GALK1		Deficiency of galactokinase	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 208621424.	NM_000154.2(GALK1):c.949G>A (p.Asp317Asn) GRCh37: Chr17:73754449 GRCh38: Chr17:75758368	GALK1	D317N	Deficiency of galactokinase	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 205069925.	NM_000154.2(GALK1):c.166-6T>C GRCh37: Chr17:73760173 GRCh38: Chr17:75764092	GALK1		Deficiency of galactokinase	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 204615126.	NM_000154.2(GALK1):c.793+2T>C GRCh37: Chr17:73758783 GRCh38: Chr17:75762702	GALK1		Deficiency of galactokinase	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 204269427.	NM_000154.2(GALK1):c.1132T>G (p.Phe378Val) GRCh37: Chr17:73754184 GRCh38: Chr17:75758103	GALK1	F378V	Deficiency of galactokinase	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 204124628.	NM_000154.2(GALK1):c.475+1G>A GRCh37: Chr17:73759400 GRCh38: Chr17:75763319	GALK1		Deficiency of galactokinase	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 204052729.	NM_000154.2(GALK1):c.719G>A (p.Arg240Gln) GRCh37: Chr17:73758859 GRCh38: Chr17:75762778	GALK1	R240Q	Deficiency of galactokinase	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 203731930.	NM_000154.2(GALK1):c.442G>T (p.Ala148Ser) GRCh37: Chr17:73759434 GRCh38: Chr17:75763353	GALK1	A148S	Deficiency of galactokinase	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 203503031.	NM_000154.2(GALK1):c.355+10C>G GRCh37: Chr17:73759968 GRCh38: Chr17:75763887	GALK1		Deficiency of galactokinase	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203489632.	NM_000154.2(GALK1):c.794-4C>A GRCh37: Chr17:73754684 GRCh38: Chr17:75758603	GALK1		Deficiency of galactokinase	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203065633.	NM_000154.2(GALK1):c.207G>A (p.Lys69=) GRCh37: Chr17:73760126 GRCh38: Chr17:75764045	GALK1		Deficiency of galactokinase	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202812834.	NM_000154.2(GALK1):c.339G>T (p.Val113=) GRCh37: Chr17:73759994 GRCh38: Chr17:75763913	GALK1		Deficiency of galactokinase	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202600235.	NM_000154.2(GALK1):c.819G>A (p.Glu273=) GRCh37: Chr17:73754655 GRCh38: Chr17:75758574	GALK1		Deficiency of galactokinase	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 202578736.	NM_000154.2(GALK1):c.867C>A (p.Ala289=) GRCh37: Chr17:73754607 GRCh38: Chr17:75758526	GALK1		Deficiency of galactokinase	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202556537.	NM_000154.2(GALK1):c.1122G>C (p.Gly374=) GRCh37: Chr17:73754194 GRCh38: Chr17:75758113	GALK1		Deficiency of galactokinase	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202153838.	NM_000154.2(GALK1):c.356-8C>A GRCh37: Chr17:73759528 GRCh38: Chr17:75763447	GALK1		Deficiency of galactokinase	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201958339.	NM_000154.2(GALK1):c.102G>A (p.Ala34=) GRCh37: Chr17:73761116 GRCh38: Chr17:75765035	GALK1		Deficiency of galactokinase	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201375140.	NM_000154.2(GALK1):c.543C>T (p.Pro181=) GRCh37: Chr17:73759163 GRCh38: Chr17:75763082	GALK1		Deficiency of galactokinase	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 200264641.	NM_000154.2(GALK1):c.166-7C>A GRCh37: Chr17:73760174 GRCh38: Chr17:75764093	GALK1		Deficiency of galactokinase	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 200215942.	NM_000154.2(GALK1):c.882C>T (p.Ala294=) GRCh37: Chr17:73754592 GRCh38: Chr17:75758511	GALK1		Deficiency of galactokinase	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 199526043.	NM_000154.2(GALK1):c.714G>A (p.Val238=) GRCh37: Chr17:73758864 GRCh38: Chr17:75762783	GALK1		Deficiency of galactokinase	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 198681944.	NM_000154.2(GALK1):c.639C>G (p.Leu213=) GRCh37: Chr17:73758939 GRCh38: Chr17:75762858	GALK1		Deficiency of galactokinase	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 198632645.	NM_000154.2(GALK1):c.234C>T (p.Thr78=) GRCh37: Chr17:73760099 GRCh38: Chr17:75764018	GALK1		Deficiency of galactokinase	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 198162946.	NM_000154.2(GALK1):c.356-8C>T GRCh37: Chr17:73759528 GRCh38: Chr17:75763447	GALK1		Deficiency of galactokinase	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 197049647.	NM_000154.2(GALK1):c.177C>T (p.Leu59=) GRCh37: Chr17:73760156 GRCh38: Chr17:75764075	GALK1		Deficiency of galactokinase	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 195972348.	NM_000154.2(GALK1):c.56C>A (p.Ala19Asp) GRCh37: Chr17:73761162 GRCh38: Chr17:75765081	GALK1	A19D	Deficiency of galactokinase	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 195623549.	NM_000154.2(GALK1):c.612-6C>T GRCh37: Chr17:73758972 GRCh38: Chr17:75762891	GALK1		Deficiency of galactokinase	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 195578250.	NM_000154.2(GALK1):c.1176G>A (p.Leu392=) GRCh37: Chr17:73754140 GRCh38: Chr17:75758059	GALK1		Deficiency of galactokinase	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 194856051.	NM_000154.2(GALK1):c.90G>C (p.Leu30=) GRCh37: Chr17:73761128 GRCh38: Chr17:75765047	GALK1		Deficiency of galactokinase	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 194331352.	NM_000154.2(GALK1):c.609dup (p.Arg204fs) GRCh37: Chr17:73759096-73759097 GRCh38: Chr17:75763015-75763016	GALK1	R204fs	Deficiency of galactokinase	Pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 193159653.	NM_000154.2(GALK1):c.796G>A (p.Ala266Thr) GRCh37: Chr17:73754678 GRCh38: Chr17:75758597	GALK1	A266T	Deficiency of galactokinase	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 190721454.	NM_000154.2(GALK1):c.141C>T (p.Tyr47=) GRCh37: Chr17:73761077 GRCh38: Chr17:75764996	GALK1		Deficiency of galactokinase	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 189945855.	NM_000154.2(GALK1):c.793+13A>G GRCh37: Chr17:73758772 GRCh38: Chr17:75762691	GALK1		Deficiency of galactokinase	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 189731156.	NM_000154.2(GALK1):c.793+2T>G GRCh37: Chr17:73758783 GRCh38: Chr17:75762702	GALK1		Deficiency of galactokinase	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 172691257.	NM_000154.2(GALK1):c.205A>T (p.Lys69Ter) GRCh37: Chr17:73760128 GRCh38: Chr17:75764047	GALK1	K69*	Deficiency of galactokinase	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172684758.	NM_000154.2(GALK1):c.331A>T (p.Lys111Ter) GRCh37: Chr17:73760002 GRCh38: Chr17:75763921	GALK1	K111*	Deficiency of galactokinase	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172630359.	NM_000154.2(GALK1):c.573del (p.Met192fs) GRCh37: Chr17:73759133 GRCh38: Chr17:75763052	GALK1	M192fs	Deficiency of galactokinase	Likely pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 172605260.	NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs) GRCh37: Chr17:73754665-73754666 GRCh38: Chr17:75758584-75758585	GALK1	V270fs	Deficiency of galactokinase	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 172598861.	NM_000154.2(GALK1):c.286C>T (p.Gln96Ter) GRCh37: Chr17:73760047 GRCh38: Chr17:75763966	GALK1	Q96*	Deficiency of galactokinase	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172547062.	NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs) GRCh37: Chr17:73758839-73758840 GRCh38: Chr17:75762758-75762759	GALK1	A247fs	Deficiency of galactokinase	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 172502063.	NM_000154.2(GALK1):c.403del (p.Leu135fs) GRCh37: Chr17:73759473 GRCh38: Chr17:75763392	GALK1	L135fs	Deficiency of galactokinase	Likely pathogenic (Nov 28, 2021)	criteria provided, single submitter
Select item 172486664.	NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs) GRCh37: Chr17:73759450-73759451 GRCh38: Chr17:75763369-75763370	GALK1	S142fs	Deficiency of galactokinase	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172478365.	NM_000154.2(GALK1):c.520G>T (p.Glu174Ter) GRCh37: Chr17:73759186 GRCh38: Chr17:75763105	GALK1	E174*	Deficiency of galactokinase	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172447266.	NM_000154.2(GALK1):c.350del (p.Tyr117fs) GRCh37: Chr17:73759983 GRCh38: Chr17:75763902	GALK1	Y117fs	Deficiency of galactokinase	Likely pathogenic (Nov 13, 2021)	criteria provided, single submitter
Select item 170512067.	NC_000017.10:g.(73754681_73758784)_(73761281_?)del GRCh37: Chr17:73754681-73761281	GALK1		Deficiency of galactokinase	Likely pathogenic (Aug 17, 2022)	criteria provided, single submitter
Select item 169849568.	NM_000154.2(GALK1):c.552C>G (p.Ile184Met) GRCh37: Chr17:73759154 GRCh38: Chr17:75763073	GALK1	I184M	Deficiency of galactokinase, not specified	Uncertain significance (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168376469.	NM_000154.2(GALK1):c.166-5_227dup GRCh37: Chr17:73760105-73760106 GRCh38: Chr17:75764024-75764025	GALK1		Deficiency of galactokinase	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 167011170.	NM_000154.2(GALK1):c.447G>C (p.Thr149=) GRCh37: Chr17:73759429 GRCh38: Chr17:75763348	GALK1		Deficiency of galactokinase	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 166845571.	NM_000154.2(GALK1):c.476-9G>A GRCh37: Chr17:73759239 GRCh38: Chr17:75763158	GALK1		Deficiency of galactokinase	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 166031772.	NM_000154.2(GALK1):c.355+9C>A GRCh37: Chr17:73759969 GRCh38: Chr17:75763888	GALK1		Deficiency of galactokinase	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 166009873.	NM_000154.2(GALK1):c.990G>A (p.Glu330=) GRCh37: Chr17:73754408 GRCh38: Chr17:75758327	GALK1		Deficiency of galactokinase	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 165642374.	NM_000154.2(GALK1):c.408G>C (p.Gly136=) GRCh37: Chr17:73759468 GRCh38: Chr17:75763387	GALK1		Deficiency of galactokinase	Likely benign (Nov 27, 2020)	criteria provided, single submitter
Select item 165619675.	NM_000154.2(GALK1):c.166-9T>C GRCh37: Chr17:73760176 GRCh38: Chr17:75764095	GALK1		Deficiency of galactokinase	Likely benign (Mar 20, 2021)	criteria provided, single submitter
Select item 165501276.	NM_000154.2(GALK1):c.759A>G (p.Glu253=) GRCh37: Chr17:73758819 GRCh38: Chr17:75762738	GALK1		Deficiency of galactokinase	Likely benign (May 1, 2021)	criteria provided, single submitter
Select item 165144277.	NM_000154.2(GALK1):c.279C>G (p.Pro93=) GRCh37: Chr17:73760054 GRCh38: Chr17:75763973	GALK1		Deficiency of galactokinase	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 164861278.	NM_000154.2(GALK1):c.799A>C (p.Arg267=) GRCh37: Chr17:73754675 GRCh38: Chr17:75758594	GALK1		Deficiency of galactokinase	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 164730979.	NM_000154.2(GALK1):c.459C>T (p.Leu153=) GRCh37: Chr17:73759417 GRCh38: Chr17:75763336	GALK1		Deficiency of galactokinase	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 164525280.	NM_000154.2(GALK1):c.837G>A (p.Arg279=) GRCh37: Chr17:73754637 GRCh38: Chr17:75758556	GALK1		Deficiency of galactokinase	Likely benign (Apr 3, 2021)	criteria provided, single submitter
Select item 164344481.	NM_000154.2(GALK1):c.1108-12C>T GRCh37: Chr17:73754220 GRCh38: Chr17:75758139	GALK1		Deficiency of galactokinase	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 163630382.	NM_000154.2(GALK1):c.612-8C>T GRCh37: Chr17:73758974 GRCh38: Chr17:75762893	GALK1		Deficiency of galactokinase	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 163597883.	NM_000154.2(GALK1):c.699C>T (p.Ser233=) GRCh37: Chr17:73758879 GRCh38: Chr17:75762798	GALK1		Deficiency of galactokinase	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 163421784.	NM_000154.2(GALK1):c.144C>T (p.Asn48=) GRCh37: Chr17:73761074 GRCh38: Chr17:75764993	GALK1		Deficiency of galactokinase	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 163407185.	NM_000154.2(GALK1):c.356-10T>C GRCh37: Chr17:73759530 GRCh38: Chr17:75763449	GALK1		Deficiency of galactokinase	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 163103286.	NM_000154.2(GALK1):c.843G>C (p.Val281=) GRCh37: Chr17:73754631 GRCh38: Chr17:75758550	GALK1		Deficiency of galactokinase	Likely benign (Apr 23, 2021)	criteria provided, single submitter
Select item 162004387.	NM_000154.2(GALK1):c.585A>G (p.Lys195=) GRCh37: Chr17:73759121 GRCh38: Chr17:75763040	GALK1		Deficiency of galactokinase	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 161892388.	NM_000154.2(GALK1):c.822C>T (p.Gly274=) GRCh37: Chr17:73754652 GRCh38: Chr17:75758571	GALK1		Deficiency of galactokinase	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 161461089.	NM_000154.2(GALK1):c.939A>T (p.Ser313=) GRCh37: Chr17:73754535 GRCh38: Chr17:75758454	GALK1		Deficiency of galactokinase	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 160860190.	NM_000154.2(GALK1):c.864G>T (p.Thr288=) GRCh37: Chr17:73754610 GRCh38: Chr17:75758529	GALK1		Deficiency of galactokinase	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 160706491.	NM_000154.2(GALK1):c.1107+14A>G GRCh37: Chr17:73754277 GRCh38: Chr17:75758196	GALK1		Deficiency of galactokinase	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 160689992.	NM_000154.2(GALK1):c.933C>T (p.His311=) GRCh37: Chr17:73754541 GRCh38: Chr17:75758460	GALK1		Deficiency of galactokinase	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 160384293.	NM_000154.2(GALK1):c.930C>T (p.Ser310=) GRCh37: Chr17:73754544 GRCh38: Chr17:75758463	GALK1		Deficiency of galactokinase	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 160315494.	NM_000154.2(GALK1):c.84C>G (p.Pro28=) GRCh37: Chr17:73761134 GRCh38: Chr17:75765053	GALK1		Deficiency of galactokinase	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 160125595.	NM_000154.2(GALK1):c.611+18C>T GRCh37: Chr17:73759077 GRCh38: Chr17:75762996	GALK1		Deficiency of galactokinase	Benign (Sep 17, 2022)	criteria provided, single submitter
Select item 159710196.	NM_000154.2(GALK1):c.261G>A (p.Arg87=) GRCh37: Chr17:73760072 GRCh38: Chr17:75763991	GALK1		Deficiency of galactokinase	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 159675297.	NM_000154.2(GALK1):c.516G>A (p.Gln172=) GRCh37: Chr17:73759190 GRCh38: Chr17:75763109	GALK1		Deficiency of galactokinase	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 159427498.	NM_000154.2(GALK1):c.846G>A (p.Val282=) GRCh37: Chr17:73754628 GRCh38: Chr17:75758547	GALK1		Deficiency of galactokinase	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 159369099.	NM_000154.2(GALK1):c.324C>T (p.Asn108=) GRCh37: Chr17:73760009 GRCh38: Chr17:75763928	GALK1		Deficiency of galactokinase	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 1592561100.	NM_000154.2(GALK1):c.978C>T (p.Asp326=) GRCh37: Chr17:73754420 GRCh38: Chr17:75758339	GALK1		Deficiency of galactokinase	Likely benign (Sep 14, 2022)	criteria provided, single submitter

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