ClinVar for MedGen (Select 462263) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24389861.	NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser) GRCh37: Chr13:52598636 GRCh38: Chr13:52024500	ALG11	N257S	ALG11-congenital disorder of glycosylation	Uncertain significance (Apr 24, 2021)	criteria provided, single submitter
Select item 21737192.	NM_001004127.3(ALG11):c.534C>T (p.Tyr178=) GRCh37: Chr13:52598400 GRCh38: Chr13:52024264	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 21658303.	NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu) GRCh37: Chr13:52598230 GRCh38: Chr13:52024094	ALG11	I122L	ALG11-congenital disorder of glycosylation	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 21176174.	NM_001004127.3(ALG11):c.494T>C (p.Met165Thr) GRCh37: Chr13:52598360 GRCh38: Chr13:52024224	ALG11	M165T	ALG11-congenital disorder of glycosylation	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 20739745.	NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs) GRCh37: Chr13:52602720-52602723 GRCh38: Chr13:52028584-52028587	ALG11, UTP14C	K492fs	ALG11-congenital disorder of glycosylation	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 20664656.	NM_001004127.3(ALG11):c.306C>T (p.Thr102=) GRCh37: Chr13:52598172 GRCh38: Chr13:52024036	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 19902587.	NM_001004127.3(ALG11):c.44+14C>G GRCh37: Chr13:52586612 GRCh38: Chr13:52012476	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 19185138.	NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly) GRCh37: Chr13:52593242 GRCh38: Chr13:52019106	ALG11	R80G	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 18958029.	NM_001004127.3(ALG11):c.309C>T (p.Gly103=) GRCh37: Chr13:52598175 GRCh38: Chr13:52024039	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 171549110.	NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn) GRCh37: Chr13:52602520 GRCh38: Chr13:52028384	ALG11, UTP14C	D425N	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 170564711.	NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr) GRCh37: Chr13:52593255 GRCh38: Chr13:52019119	ALG11	C84Y	ALG11-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 167281512.	NM_001004127.3(ALG11):c.44+19G>A GRCh37: Chr13:52586617 GRCh38: Chr13:52012481	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 165884913.	NM_021645.6(UTP14C):c.-486-7T>C GRCh37: Chr13:52602448 GRCh38: Chr13:52028312	UTP14C, ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 165884814.	NM_021645.6(UTP14C):c.-486-14G>T GRCh37: Chr13:52602441 GRCh38: Chr13:52028305	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 164776115.	NM_001004127.3(ALG11):c.402G>A (p.Arg134=) GRCh37: Chr13:52598268 GRCh38: Chr13:52024132	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Nov 26, 2020)	criteria provided, single submitter
Select item 162090716.	NM_001004127.3(ALG11):c.874T>C (p.Leu292=) GRCh37: Chr13:52598740 GRCh38: Chr13:52024604	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 161544817.	NM_001004127.3(ALG11):c.987G>A (p.Lys329=) GRCh37: Chr13:52598853 GRCh38: Chr13:52024717	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 158188818.	NM_001004127.3(ALG11):c.18G>A (p.Arg6=) GRCh37: Chr13:52586572 GRCh38: Chr13:52012436	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 152304219.	NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) GRCh37: Chr13:52586585 GRCh38: Chr13:52012449	ALG11	C11G	ALG11-congenital disorder of glycosylation	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 151762020.	NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) GRCh37: Chr13:52598803 GRCh38: Chr13:52024667	ALG11	K313E	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 143743521.	NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) GRCh37: Chr13:52598528 GRCh38: Chr13:52024392	ALG11	A221G	ALG11-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 141507222.	NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) GRCh37: Chr13:52598191 GRCh38: Chr13:52024055	ALG11	G109S	ALG11-congenital disorder of glycosylation	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 139803423.	NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) GRCh37: Chr13:52598812 GRCh38: Chr13:52024676	ALG11	P316A	ALG11-congenital disorder of glycosylation	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 134739524.	NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) GRCh37: Chr13:52593128 GRCh38: Chr13:52018992	ALG11	I42V	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 130328325.	NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) GRCh37: Chr13:52599026 GRCh38: Chr13:52024890	ALG11, UTP14C	E387A	ALG11-congenital disorder of glycosylation, not provided	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121021526.	NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) GRCh37: Chr13:52599050 GRCh38: Chr13:52024914	ALG11, UTP14C	M395T	ALG11-congenital disorder of glycosylation	Likely pathogenic	criteria provided, single submitter
Select item 118460527.	NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) GRCh37: Chr13:52586556 GRCh38: Chr13:52012420	ALG11	M1T	ALG11-congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 114319328.	NM_001004127.3(ALG11):c.44+154G>A GRCh37: Chr13:52586752 GRCh38: Chr13:52012616	ALG11		ALG11-congenital disorder of glycosylation, not provided	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113513529.	NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) GRCh37: Chr13:52599057 GRCh38: Chr13:52024921	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Likely benign (Nov 30, 2020)	criteria provided, single submitter
Select item 107382530.	NC_000013.10:g.(?_52585403)_(52602726_?)del GRCh37: Chr13:52585403-52602726	ALG11, ATP7B, UTP14C		ALG11-congenital disorder of glycosylation, Wilson disease	Pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 106381831.	NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) GRCh37: Chr13:52593191 GRCh38: Chr13:52019055	ALG11	M63L	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 106183132.	NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) GRCh37: Chr13:52598388 GRCh38: Chr13:52024252	ALG11	D174E	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 102890833.	NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) GRCh37: Chr13:52598857 GRCh38: Chr13:52024721	ALG11, UTP14C	V331F	ALG11-congenital disorder of glycosylation	Uncertain significance (Feb 15, 2019)	criteria provided, single submitter
Select item 102890734.	NM_001004127.3(ALG11):c.1A>G (p.Met1Val) GRCh37: Chr13:52586555 GRCh38: Chr13:52012419	ALG11	M1V	ALG11-congenital disorder of glycosylation	Likely pathogenic (Aug 27, 2019)	criteria provided, single submitter
Select item 101538535.	NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) GRCh37: Chr13:52598502 GRCh38: Chr13:52024366	ALG11	N212K	ALG11-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 96124736.	NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) GRCh37: Chr13:52602596 GRCh38: Chr13:52028460	ALG11, UTP14C	A450V	ALG11-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94980437.	NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) GRCh37: Chr13:52598363 GRCh38: Chr13:52024227	ALG11	Q166R	not provided, ALG11-congenital disorder of glycosylation	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88395638.	NM_021645.6(UTP14C):c.470T>G (p.Val157Gly) GRCh37: Chr13:52603410 GRCh38: Chr13:52029274	ALG11, UTP14C	V157G	Inborn genetic diseases, ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88395539.	NM_021645.6(UTP14C):c.326T>A (p.Val109Asp) GRCh37: Chr13:52603266 GRCh38: Chr13:52029130	ALG11, UTP14C	V109D	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88395440.	NM_021645.6(UTP14C):c.277G>A (p.Val93Ile) GRCh37: Chr13:52603217 GRCh38: Chr13:52029081	ALG11, UTP14C	V93I	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88395341.	NM_021645.6(UTP14C):c.276C>T (p.Pro92=) GRCh37: Chr13:52603216 GRCh38: Chr13:52029080	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88389142.	NM_001004127.3(ALG11):c.190G>A (p.Val64Met) GRCh37: Chr13:52593194 GRCh38: Chr13:52019058	ALG11	V64M	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88389043.	NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) GRCh37: Chr13:52593172 GRCh38: Chr13:52019036	ALG11	S56R	ALG11-congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88388944.	NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) GRCh37: Chr13:52586575 GRCh38: Chr13:52012439	ALG11	S7R	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88388845.	NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) GRCh37: Chr13:52586564 GRCh38: Chr13:52012428	ALG11	G4S	Inborn genetic diseases, ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88317746.	NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp) GRCh37: Chr13:52603112 GRCh38: Chr13:52028976	ALG11, UTP14C	R58W	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88317647.	NM_021645.6(UTP14C):c.-42G>A GRCh37: Chr13:52602899 GRCh38: Chr13:52028763	ALG11, UTP14C		not provided, ALG11-congenital disorder of glycosylation	Likely benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88317548.	NM_021645.6(UTP14C):c.-193G>T GRCh37: Chr13:52602748 GRCh38: Chr13:52028612	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88201349.	NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) GRCh37: Chr13:52602516 GRCh38: Chr13:52028380	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 88201250.	NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) GRCh37: Chr13:52602461 GRCh38: Chr13:52028325	ALG11, UTP14C	V405A	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88201151.	NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) GRCh37: Chr13:52598903 GRCh38: Chr13:52024767	ALG11, UTP14C	R346H	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88066852.	NM_021645.6(UTP14C):c.575A>G (p.His192Arg) GRCh37: Chr13:52603515 GRCh38: Chr13:52029379	ALG11, UTP14C	H192R	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88066753.	NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser) GRCh37: Chr13:52603480 GRCh38: Chr13:52029344	ALG11, UTP14C	R180S	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88059754.	NM_001004127.3(ALG11):c.900A>T (p.Gly300=) GRCh37: Chr13:52598766 GRCh38: Chr13:52024630	ALG11		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88059655.	NM_001004127.3(ALG11):c.526A>G (p.Met176Val) GRCh37: Chr13:52598392 GRCh38: Chr13:52024256	ALG11	M176V	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88059556.	NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) GRCh37: Chr13:52598147 GRCh38: Chr13:52024011	ALG11	P94R	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 75947657.	NM_001004127.3(ALG11):c.678T>C (p.Asn226=) GRCh37: Chr13:52598544 GRCh38: Chr13:52024408	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 71537158.	NM_001004127.3(ALG11):c.1452A>G (p.Leu484=) GRCh37: Chr13:52602699 GRCh38: Chr13:52028563	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Likely benign (Oct 22, 2021)	criteria provided, single submitter
Select item 65433859.	NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) GRCh37: Chr13:52598765 GRCh38: Chr13:52024629	ALG11	G300E	ALG11-congenital disorder of glycosylation	Uncertain significance (Dec 31, 2018)	criteria provided, single submitter
Select item 65326660.	NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) GRCh37: Chr13:52586559 GRCh38: Chr13:52012423	ALG11	A2V	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 58421361.	NC_000013.10:g.(?_52538988)_(52602746_?)dup GRCh37: Chr13:52538988-52602746 GRCh38: Chr13:51964852-52028610	ALG11, ATP7B, LOC124900147, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 31, 2018)	criteria provided, single submitter
Select item 57535662.	NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) GRCh37: Chr13:52598689 GRCh38: Chr13:52024553	ALG11	T275A	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 53887063.	NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) GRCh37: Chr13:52598272 GRCh38: Chr13:52024136	ALG11	R136C	not provided, ALG11-congenital disorder of glycosylation	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50927964.	NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) GRCh37: Chr13:52598973 GRCh38: Chr13:52024837	UTP14C, ALG11		ALG11-congenital disorder of glycosylation, not specified	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48732365.	NM_001004127.3(ALG11):c.44+324T>C GRCh37: Chr13:52586922 GRCh38: Chr13:52012786	ALG11		ALG11-congenital disorder of glycosylation	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 42247666.	NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) GRCh37: Chr13:52602470 GRCh38: Chr13:52028334	ALG11, UTP14C	M408R	not provided	Likely pathogenic (Oct 31, 2016)	criteria provided, single submitter
Select item 42247567.	NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) GRCh37: Chr13:52598801 GRCh38: Chr13:52024665	ALG11	E312G	not provided	Likely pathogenic (Oct 31, 2016)	criteria provided, single submitter
Select item 42041868.	NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) GRCh37: Chr13:52598848-52598850 GRCh38: Chr13:52024712-52024714	UTP14C, ALG11	K329del	not provided	Conflicting interpretations of pathogenicity (Aug 29, 2022)	criteria provided, conflicting interpretations
Select item 38476969.	NM_001004127.3(ALG11):c.44+20G>T GRCh37: Chr13:52586618 GRCh38: Chr13:52012482	ALG11		ALG11-congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38140570.	NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) GRCh37: Chr13:52598898 GRCh38: Chr13:52024762	ALG11, UTP14C		not specified, ALG11-congenital disorder of glycosylation	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31242671.	NM_021645.6(UTP14C):c.835C>T (p.Leu279=) GRCh37: Chr13:52603775 GRCh38: Chr13:52029639	ALG11, UTP14C		not provided, ALG11-congenital disorder of glycosylation	Benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31242572.	NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu) GRCh37: Chr13:52603679 GRCh38: Chr13:52029543	ALG11, UTP14C	K247E	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31242373.	NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala) GRCh37: Chr13:52603241 GRCh38: Chr13:52029105	ALG11, UTP14C	T101A	not provided, ALG11-congenital disorder of glycosylation	Benign (May 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31242274.	NM_021645.6(UTP14C):c.254G>T (p.Gly85Val) GRCh37: Chr13:52603194 GRCh38: Chr13:52029058	ALG11, UTP14C	G85V	not provided, ALG11-congenital disorder of glycosylation	Benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31242175.	NM_021645.6(UTP14C):c.192T>C (p.Ser64=) GRCh37: Chr13:52603132 GRCh38: Chr13:52028996	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31242076.	NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn) GRCh37: Chr13:52603023 GRCh38: Chr13:52028887	ALG11, UTP14C	S28N	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31241977.	NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe) GRCh37: Chr13:52603003 GRCh38: Chr13:52028867	ALG11, UTP14C	L21F	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31241878.	NM_021645.6(UTP14C):c.-22A>C GRCh37: Chr13:52602919 GRCh38: Chr13:52028783	ALG11, UTP14C		not provided, ALG11-congenital disorder of glycosylation	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31241779.	NM_021645.6(UTP14C):c.-67A>T GRCh37: Chr13:52602874 GRCh38: Chr13:52028738	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31241680.	NM_021645.6(UTP14C):c.-486-6T>C GRCh37: Chr13:52602449 GRCh38: Chr13:52028313	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 31241581.	NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) GRCh37: Chr13:52598900 GRCh38: Chr13:52024764	ALG11, UTP14C	C345F	ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31241482.	NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) GRCh37: Chr13:52598895 GRCh38: Chr13:52024759	ALG11, UTP14C		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31241383.	NM_001004127.3(ALG11):c.933G>A (p.Pro311=) GRCh37: Chr13:52598799 GRCh38: Chr13:52024663	ALG11		not specified, ALG11-congenital disorder of glycosylation	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31241284.	NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) GRCh37: Chr13:52598401 GRCh38: Chr13:52024265	ALG11	A179T	ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31241185.	NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) GRCh37: Chr13:52593260 GRCh38: Chr13:52019124	ALG11	L86V	ALG11-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31241086.	NM_001004127.3(ALG11):c.75C>T (p.Leu25=) GRCh37: Chr13:52593079 GRCh38: Chr13:52018943	ALG11		ALG11-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31240987.	NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) GRCh37: Chr13:52586598 GRCh38: Chr13:52012462	ALG11	R15T	not provided, ALG11-congenital disorder of glycosylation	Uncertain significance (Oct 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31240888.	NM_001004127.2(ALG11):c.-23C>T GRCh37: Chr13:52586532 GRCh38: Chr13:52012396	ALG11, ATP7B		not specified, ALG11-congenital disorder of glycosylation, Wilson disease	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23551389.	NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) GRCh37: Chr13:52603448 GRCh38: Chr13:52029312	ALG11, UTP14C	I170V	not provided, ALG11-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 23537790.	NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) GRCh37: Chr13:52593177 GRCh38: Chr13:52019041	ALG11	N58I	not specified, ALG11-congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19629291.	NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) GRCh37: Chr13:52598668 GRCh38: Chr13:52024532	ALG11	L268I	not provided, ALG11-congenital disorder of glycosylation	Uncertain significance (Aug 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 19629192.	NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) GRCh37: Chr13:52598189 GRCh38: Chr13:52024053	ALG11	N108S	not specified, ALG11-congenital disorder of glycosylation	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19510293.	NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) GRCh37: Chr13:52593141 GRCh38: Chr13:52019005	ALG11	L46P	not provided	Uncertain significance (Feb 7, 2015)	criteria provided, single submitter
Select item 9344394.	NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) GRCh37: Chr13:52602488 GRCh38: Chr13:52028352	ALG11, UTP14C	I414N	ALG11-congenital disorder of glycosylation, not provided	Conflicting interpretations of pathogenicity (Jan 30, 2013)	criteria provided, conflicting interpretations
Select item 3569995.	NM_000053.4(ATP7B):c.-123_-119dupCGCCG GRCh37: Chr13:52585591-52585592 GRCh38: Chr13:52011455-52011456	ALG11, ATP7B		not specified, not provided, Congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation, Wilson disease	Benign/Likely benign (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3164796.	NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) GRCh37: Chr13:52598819 GRCh38: Chr13:52024683	ALG11	Q318P	ALG11-congenital disorder of glycosylation	Pathogenic (Mar 1, 2012)	no assertion criteria provided
Select item 3164697.	NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) GRCh37: Chr13:52599058 GRCh38: Chr13:52024922	ALG11, UTP14C	E398K	ALG11-congenital disorder of glycosylation	Pathogenic (Mar 1, 2012)	no assertion criteria provided
Select item 3164598.	NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) GRCh37: Chr13:52599008 GRCh38: Chr13:52024872	ALG11, UTP14C	L381S	ALG11-congenital disorder of glycosylation	Pathogenic (Mar 1, 2012)	no assertion criteria provided
Select item 3164499.	NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) GRCh37: Chr13:52598702 GRCh38: Chr13:52024566	ALG11	Y279S	ALG11-congenital disorder of glycosylation	Pathogenic (Mar 1, 2012)	no assertion criteria provided
Select item 31643100.	NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) GRCh37: Chr13:52598488-52598507 GRCh38: Chr13:52024352-52024371	ALG11	S208fs	ALG11-congenital disorder of glycosylation	Pathogenic (Mar 1, 2012)	no assertion criteria provided

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