ClinVar for MedGen (Select 138111) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25039141.	NM_000303.3(PMM2):c.640G>C (p.Gly214Arg) GRCh37: Chr16:8941581 GRCh38: Chr16:8847724	PMM2	G214R	PMM2-congenital disorder of glycosylation	Likely pathogenic (Apr 26, 2023)	criteria provided, single submitter
Select item 24421752.	NM_000303.3(PMM2):c.366C>G (p.Phe122Leu) GRCh37: Chr16:8904954 GRCh38: Chr16:8811097	PMM2	F122L	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 24350933.	NM_000303.3(PMM2):c.359T>A (p.Ile120Asn) GRCh37: Chr16:8904947 GRCh38: Chr16:8811090	PMM2	I120N	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 24, 2020)	criteria provided, single submitter
Select item 24350924.	NM_000303.3(PMM2):c.348-2_348-1insAA GRCh37: Chr16:8904933-8904934 GRCh38: Chr16:8811076-8811077	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 24350915.	NM_000303.3(PMM2):c.261T>G (p.Ile87Met) GRCh37: Chr16:8900178 GRCh38: Chr16:8806321	PMM2	I87M	PMM2-congenital disorder of glycosylation	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 24291406.	NM_000303.3(PMM2):c.667G>A (p.Asp223Asn) GRCh37: Chr16:8941608 GRCh38: Chr16:8847751	PMM2	D223N	PMM2-congenital disorder of glycosylation	Pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24290157.	NM_000303.3(PMM2):c.26G>T (p.Cys9Phe) GRCh37: Chr16:8891765 GRCh38: Chr16:8797908	PMM2	C9F	PMM2-congenital disorder of glycosylation	Likely pathogenic (Dec 6, 2022)	criteria provided, single submitter
Select item 24228468.	NC_000016.9:g.(?_8839838)_(8900284_?)dup GRCh37: Chr16:8839838-8900284	TMEM186, ABAT, PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24228459.	NC_000016.9:g.(?_8926102)_(8941682_?)dup GRCh37: Chr16:8926102-8941682	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 242284410.	NC_000016.9:g.(?_8891573)_(8941682_?)dup GRCh37: Chr16:8891573-8941682	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 242284311.	NC_000016.9:g.(?_8839838)_(8905055_?)dup GRCh37: Chr16:8839838-8905055	ABAT, PMM2, TMEM186		PMM2-congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 242284212.	NC_000016.9:g.(?_8898599)_(8898710_?)dup GRCh37: Chr16:8898599-8898710	PMM2		PMM2-congenital disorder of glycosylation	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 242284113.	NC_000016.9:g.(?_8895646)_(8895777_?)dup GRCh37: Chr16:8895646-8895777	PMM2		PMM2-congenital disorder of glycosylation	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 242284014.	NC_000016.9:g.(?_8900163)_(8941692_?)del GRCh37: Chr16:8900163-8941692	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 242283915.	NC_000016.9:g.(?_8906828)_(8906983_?)del GRCh37: Chr16:8906828-8906983	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 242283816.	NC_000016.9:g.(?_8905475)_(8905590_?)del GRCh37: Chr16:8905475-8905590	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 241972417.	NM_000303.3(PMM2):c.521T>C (p.Ile174Thr) GRCh37: Chr16:8905568 GRCh38: Chr16:8811711	PMM2	I174T	PMM2-congenital disorder of glycosylation	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 241610118.	NM_000303.3(PMM2):c.279G>A (p.Glu93=) GRCh37: Chr16:8900196 GRCh38: Chr16:8806339	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241337319.	NM_000303.3(PMM2):c.631A>G (p.Thr211Ala) GRCh37: Chr16:8906955 GRCh38: Chr16:8813098	PMM2	T211A	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 224659820.	NM_000303.3(PMM2):c.264A>C (p.Gln88His) GRCh37: Chr16:8900181 GRCh38: Chr16:8806324	PMM2	Q88H	PMM2-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219890221.	NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser) GRCh37: Chr16:8898636 GRCh38: Chr16:8804779	PMM2	Y64S	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 219599722.	NM_000303.3(PMM2):c.640-17A>C GRCh37: Chr16:8941564 GRCh38: Chr16:8847707	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 219067623.	NM_000303.3(PMM2):c.255+17C>G GRCh37: Chr16:8898717 GRCh38: Chr16:8804860	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 218560324.	NM_000303.3(PMM2):c.430T>G (p.Phe144Val) GRCh37: Chr16:8905018 GRCh38: Chr16:8811161	PMM2	F144V	PMM2-congenital disorder of glycosylation, not specified	Conflicting interpretations of pathogenicity (Jun 30, 2023)	criteria provided, conflicting interpretations
Select item 218364625.	NM_000303.3(PMM2):c.178+20T>G GRCh37: Chr16:8895787 GRCh38: Chr16:8801930	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 218137526.	NM_000303.3(PMM2):c.66+12C>T GRCh37: Chr16:8891817 GRCh38: Chr16:8797960	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 217664527.	NM_000303.3(PMM2):c.66+9C>A GRCh37: Chr16:8891814 GRCh38: Chr16:8797957	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 216771028.	NM_000303.3(PMM2):c.179-4G>A GRCh37: Chr16:8898620 GRCh38: Chr16:8804763	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 216608429.	NM_000303.3(PMM2):c.405C>A (p.Ser135Arg) GRCh37: Chr16:8904993 GRCh38: Chr16:8811136	PMM2	S135R	PMM2-congenital disorder of glycosylation	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 216404030.	NM_000303.3(PMM2):c.59C>T (p.Pro20Leu) GRCh37: Chr16:8891798 GRCh38: Chr16:8797941	PMM2	P20L	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216107331.	NM_000303.3(PMM2):c.140C>T (p.Ser47Leu) GRCh37: Chr16:8895729 GRCh38: Chr16:8801872	PMM2	S47L	PMM2-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215502832.	NM_000303.3(PMM2):c.567G>A (p.Lys189=) GRCh37: Chr16:8906891 GRCh38: Chr16:8813034	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 215442833.	NM_000303.3(PMM2):c.396T>A (p.Ile132=) GRCh37: Chr16:8904984 GRCh38: Chr16:8811127	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 215437934.	NM_000303.3(PMM2):c.225A>G (p.Ala75=) GRCh37: Chr16:8898670 GRCh38: Chr16:8804813	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 215287635.	NM_000303.3(PMM2):c.488A>C (p.Lys163Thr) GRCh37: Chr16:8905535 GRCh38: Chr16:8811678	PMM2	K163T	PMM2-congenital disorder of glycosylation	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 215190636.	NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys) GRCh37: Chr16:8905022 GRCh38: Chr16:8811165	PMM2	Y145C	PMM2-congenital disorder of glycosylation	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 215065637.	NM_000303.3(PMM2):c.524-17C>T GRCh37: Chr16:8906831 GRCh38: Chr16:8812974	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 214594038.	NM_000303.3(PMM2):c.328A>G (p.Ile110Val) GRCh37: Chr16:8900245 GRCh38: Chr16:8806388	PMM2	I110V	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 214545239.	NM_000303.3(PMM2):c.708C>G (p.Asp236Glu) GRCh37: Chr16:8941649 GRCh38: Chr16:8847792	PMM2	D236E	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214469440.	NM_000303.3(PMM2):c.485G>A (p.Arg162Gln) GRCh37: Chr16:8905532 GRCh38: Chr16:8811675	PMM2	R162Q	PMM2-congenital disorder of glycosylation	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 214420441.	NM_000303.3(PMM2):c.512C>T (p.Thr171Met) GRCh37: Chr16:8905559 GRCh38: Chr16:8811702	PMM2	T171M	PMM2-congenital disorder of glycosylation	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 214343742.	NM_000303.3(PMM2):c.706G>A (p.Asp236Asn) GRCh37: Chr16:8941647 GRCh38: Chr16:8847790	PMM2	D236N	PMM2-congenital disorder of glycosylation	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 213966543.	NM_000303.3(PMM2):c.717G>T (p.Arg239Ser) GRCh37: Chr16:8941658 GRCh38: Chr16:8847801	PMM2	R239S	PMM2-congenital disorder of glycosylation	Likely pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 213964244.	NM_000303.3(PMM2):c.522A>G (p.Ile174Met) GRCh37: Chr16:8905569 GRCh38: Chr16:8811712	PMM2	I174M	PMM2-congenital disorder of glycosylation	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 213778245.	NM_000303.3(PMM2):c.715A>T (p.Arg239Trp) GRCh37: Chr16:8941656 GRCh38: Chr16:8847799	PMM2	R239W	PMM2-congenital disorder of glycosylation	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 213778146.	NM_000303.3(PMM2):c.697G>A (p.Ala233Thr) GRCh37: Chr16:8941638 GRCh38: Chr16:8847781	PMM2	A233T	PMM2-congenital disorder of glycosylation	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 213778047.	NM_000303.3(PMM2):c.682G>C (p.Gly228Arg) GRCh37: Chr16:8941623 GRCh38: Chr16:8847766	PMM2	G228R	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 213777848.	NM_000303.3(PMM2):c.391C>G (p.Pro131Ala) GRCh37: Chr16:8904979 GRCh38: Chr16:8811122	PMM2	P131A	PMM2-congenital disorder of glycosylation, Inborn genetic diseases	Pathogenic/Likely pathogenic (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213777749.	NM_000303.3(PMM2):c.353C>G (p.Thr118Ser) GRCh37: Chr16:8904941 GRCh38: Chr16:8811084	PMM2	T118S	PMM2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 213777650.	NM_000303.3(PMM2):c.303C>G (p.Asn101Lys) GRCh37: Chr16:8900220 GRCh38: Chr16:8806363	PMM2	N101K	PMM2-congenital disorder of glycosylation	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 213777551.	NM_000303.3(PMM2):c.169G>C (p.Gly57Arg) GRCh37: Chr16:8895758 GRCh38: Chr16:8801901	PMM2	G57R	PMM2-congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 213327952.	NM_000303.3(PMM2):c.720C>T (p.Ile240=) GRCh37: Chr16:8941661 GRCh38: Chr16:8847804	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213316853.	NM_000303.3(PMM2):c.178+11G>C GRCh37: Chr16:8895778 GRCh38: Chr16:8801921	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 212756054.	NM_000303.3(PMM2):c.387G>C (p.Val129=) GRCh37: Chr16:8904975 GRCh38: Chr16:8811118	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 212689755.	NM_000303.3(PMM2):c.67-8A>G GRCh37: Chr16:8895648 GRCh38: Chr16:8801791	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212680156.	NM_000303.3(PMM2):c.255+8C>T GRCh37: Chr16:8898708 GRCh38: Chr16:8804851	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212674157.	NM_000303.3(PMM2):c.524-10C>T GRCh37: Chr16:8906838 GRCh38: Chr16:8812981	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 212554158.	NM_000303.3(PMM2):c.460A>T (p.Arg154Ter) GRCh37: Chr16:8905507 GRCh38: Chr16:8811650	PMM2	R154*	PMM2-congenital disorder of glycosylation	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 212183859.	NM_000303.3(PMM2):c.534C>G (p.Ile178Met) GRCh37: Chr16:8906858 GRCh38: Chr16:8813001	PMM2	I178M	PMM2-congenital disorder of glycosylation	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 211975760.	NM_000303.3(PMM2):c.205C>A (p.Pro69Thr) GRCh37: Chr16:8898650 GRCh38: Chr16:8804793	PMM2	P69T	PMM2-congenital disorder of glycosylation	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 211835461.	NM_000303.3(PMM2):c.564C>A (p.Asp188Glu) GRCh37: Chr16:8906888 GRCh38: Chr16:8813031	PMM2	D188E	PMM2-congenital disorder of glycosylation	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 211715862.	NM_000303.3(PMM2):c.347+20A>G GRCh37: Chr16:8900284 GRCh38: Chr16:8806427	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211272463.	NM_000303.3(PMM2):c.584_585del (p.His195fs) GRCh37: Chr16:8906908-8906909 GRCh38: Chr16:8813051-8813052	PMM2	H195fs	PMM2-congenital disorder of glycosylation	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 211122464.	NM_000303.3(PMM2):c.375G>A (p.Gly125=) GRCh37: Chr16:8904963 GRCh38: Chr16:8811106	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 209938865.	NM_000303.3(PMM2):c.197_198del (p.Tyr66fs) GRCh37: Chr16:8898641-8898642 GRCh38: Chr16:8804784-8804785	PMM2	Y66fs	PMM2-congenital disorder of glycosylation	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 209891466.	NM_000303.3(PMM2):c.34G>C (p.Asp12His) GRCh37: Chr16:8891773 GRCh38: Chr16:8797916	PMM2	D12H	PMM2-congenital disorder of glycosylation	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 209601967.	NM_000303.3(PMM2):c.558A>G (p.Gly186=) GRCh37: Chr16:8906882 GRCh38: Chr16:8813025	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 209429368.	NM_000303.3(PMM2):c.67-1G>C GRCh37: Chr16:8895655 GRCh38: Chr16:8801798	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 209238969.	NM_000303.3(PMM2):c.96A>G (p.Leu32=) GRCh37: Chr16:8895685 GRCh38: Chr16:8801828	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 209071970.	NM_000303.3(PMM2):c.165A>G (p.Gln55=) GRCh37: Chr16:8895754 GRCh38: Chr16:8801897	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208893771.	NM_000303.3(PMM2):c.447A>T (p.Lys149Asn) GRCh37: Chr16:8905035 GRCh38: Chr16:8811178	PMM2	K149N	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 208415872.	NM_000303.3(PMM2):c.94C>T (p.Leu32=) GRCh37: Chr16:8895683 GRCh38: Chr16:8801826	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207653373.	NM_000303.3(PMM2):c.117C>G (p.Ile39Met) GRCh37: Chr16:8895706 GRCh38: Chr16:8801849	PMM2	I39M	PMM2-congenital disorder of glycosylation	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 207315074.	NM_000303.3(PMM2):c.347+3G>A GRCh37: Chr16:8900267 GRCh38: Chr16:8806410	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 207089775.	NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs) GRCh37: Chr16:8905514-8905515 GRCh38: Chr16:8811657-8811658	PMM2	K156fs	PMM2-congenital disorder of glycosylation	Pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 206205176.	NM_000303.3(PMM2):c.256-18_256-15del GRCh37: Chr16:8900154-8900157 GRCh38: Chr16:8806297-8806300	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 205653177.	NM_000303.3(PMM2):c.179-12T>C GRCh37: Chr16:8898612 GRCh38: Chr16:8804755	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205602078.	NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys) GRCh37: Chr16:8906926 GRCh38: Chr16:8813069	PMM2	Y201C	PMM2-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 205494579.	NM_000303.3(PMM2):c.67-2A>G GRCh37: Chr16:8895654 GRCh38: Chr16:8801797	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205013880.	NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr) GRCh37: Chr16:8898693 GRCh38: Chr16:8804836	PMM2	C83Y	Inborn genetic diseases, PMM2-congenital disorder of glycosylation	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204999081.	NM_000303.3(PMM2):c.598G>A (p.Gly200Ser) GRCh37: Chr16:8906922 GRCh38: Chr16:8813065	PMM2	G200S	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 204621882.	NM_000303.3(PMM2):c.562del (p.Asp188fs) GRCh37: Chr16:8906884 GRCh38: Chr16:8813027	PMM2	D188fs	PMM2-congenital disorder of glycosylation	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 204119583.	NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del) GRCh37: Chr16:8891753-8891764 GRCh38: Chr16:8797896-8797907	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 203442684.	NM_000303.3(PMM2):c.255+2T>G GRCh37: Chr16:8898702 GRCh38: Chr16:8804845	PMM2		PMM2-congenital disorder of glycosylation	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 203379485.	NM_000303.3(PMM2):c.705G>A (p.Glu235=) GRCh37: Chr16:8941646 GRCh38: Chr16:8847789	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 203241086.	NM_000303.3(PMM2):c.375G>T (p.Gly125=) GRCh37: Chr16:8904963 GRCh38: Chr16:8811106	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203181087.	NM_000303.3(PMM2):c.178+3A>G GRCh37: Chr16:8895770 GRCh38: Chr16:8801913	PMM2		PMM2-congenital disorder of glycosylation	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 203180088.	NM_000303.3(PMM2):c.348-2A>G GRCh37: Chr16:8904934 GRCh38: Chr16:8811077	PMM2		PMM2-congenital disorder of glycosylation	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 202859989.	NM_000303.3(PMM2):c.270T>C (p.His90=) GRCh37: Chr16:8900187 GRCh38: Chr16:8806330	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202838890.	NM_000303.3(PMM2):c.485G>C (p.Arg162Pro) GRCh37: Chr16:8905532 GRCh38: Chr16:8811675	PMM2	R162P	PMM2-congenital disorder of glycosylation	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 202325091.	NM_000303.3(PMM2):c.15C>G (p.Gly5=) GRCh37: Chr16:8891754 GRCh38: Chr16:8797897	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 202166292.	NM_000303.3(PMM2):c.405C>T (p.Ser135=) GRCh37: Chr16:8904993 GRCh38: Chr16:8811136	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201986693.	NM_000303.3(PMM2):c.194A>G (p.Asp65Gly) GRCh37: Chr16:8898639 GRCh38: Chr16:8804782	PMM2	D65G	PMM2-congenital disorder of glycosylation	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 201846294.	NM_000303.3(PMM2):c.711G>C (p.Thr237=) GRCh37: Chr16:8941652 GRCh38: Chr16:8847795	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 201671295.	NM_000303.3(PMM2):c.687C>T (p.Tyr229=) GRCh37: Chr16:8941628 GRCh38: Chr16:8847771	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 201458996.	NM_000303.3(PMM2):c.256-6A>C GRCh37: Chr16:8900167 GRCh38: Chr16:8806310	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201458497.	NM_000303.3(PMM2):c.483A>G (p.Leu161=) GRCh37: Chr16:8905530 GRCh38: Chr16:8811673	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 201080498.	NM_000303.3(PMM2):c.723T>G (p.Cys241Trp) GRCh37: Chr16:8941664 GRCh38: Chr16:8847807	PMM2	C241W	PMM2-congenital disorder of glycosylation	Likely pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 201018399.	NM_000303.3(PMM2):c.671C>T (p.Pro224Leu) GRCh37: Chr16:8941612 GRCh38: Chr16:8847755	PMM2	P224L	PMM2-congenital disorder of glycosylation	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 2008631100.	NM_000303.3(PMM2):c.477A>G (p.Ala159=) GRCh37: Chr16:8905524 GRCh38: Chr16:8811667	PMM2		PMM2-congenital disorder of glycosylation	Likely benign (Jun 20, 2022)	criteria provided, single submitter

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