ClinVar for MedGen (Select 7467) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24336301.	NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg) GRCh37: Chr19:12774517 GRCh38: Chr19:12663703	MAN2B1	G255R	Deficiency of alpha-mannosidase	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 24232312.	NC_000019.9:g.(?_12760717)_(12761046_?)dup GRCh37: Chr19:12760717-12761046	MAN2B1		Deficiency of alpha-mannosidase	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 24232303.	NC_000019.9:g.(?_12760707)_(12763294_?)dup GRCh37: Chr19:12760707-12763294	MAN2B1		Deficiency of alpha-mannosidase	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 24232294.	NC_000019.9:g.(?_12757424)_(12769334_?)del GRCh37: Chr19:12757424-12769334	MAN2B1		Deficiency of alpha-mannosidase	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 24232285.	NC_000019.9:g.(?_12774121)_(12774659_?)del GRCh37: Chr19:12774121-12774659	MAN2B1		Deficiency of alpha-mannosidase	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 24232276.	NC_000019.9:g.(?_12757434)_(12761056_?)del GRCh37: Chr19:12757434-12761056	MAN2B1		Deficiency of alpha-mannosidase	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 24232267.	NC_000019.9:g.(?_12775596)_(12777525_?)del GRCh37: Chr19:12775596-12777525	MAN2B1		Deficiency of alpha-mannosidase	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 24232258.	NC_000019.9:g.(?_12768857)_(12780217_?)del GRCh37: Chr19:12768857-12780217	WDR83, WDR83OS, MAN2B1		Deficiency of alpha-mannosidase	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 24232249.	NC_000019.9:g.(?_12757434)_(12780217_?)del GRCh37: Chr19:12757434-12780217	MAN2B1, WDR83, WDR83OS		Deficiency of alpha-mannosidase	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 242249810.	NC_000019.9:g.(?_10828919)_(13482613_?)dup GRCh37: Chr19:10828919-13482613	KLF1, TRIR, RNASEH2A, RGL3, RTBDN, TMED1, TMEM205, TNPO2, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627		Deficiency of alpha-mannosidase, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Charcot-Marie-Tooth disease dominant intermediate B, Glutaric aciduria, type 1	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 242013111.	NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val) GRCh37: Chr19:12768936 GRCh38: Chr19:12658122	MAN2B1	A416V, A417V	Deficiency of alpha-mannosidase	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 241915912.	NM_000528.4(MAN2B1):c.1420-27_1420-3del GRCh37: Chr19:12767873-12767897 GRCh38: Chr19:12657059-12657083	MAN2B1		Deficiency of alpha-mannosidase	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 241888413.	NM_000528.4(MAN2B1):c.262+13T>C GRCh37: Chr19:12776504 GRCh38: Chr19:12665690	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 241871814.	NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser) GRCh37: Chr19:12775682 GRCh38: Chr19:12664868	MAN2B1	N185S	Deficiency of alpha-mannosidase	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 241870115.	NM_000528.4(MAN2B1):c.1231-13C>A GRCh37: Chr19:12768968 GRCh38: Chr19:12658154	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 241791816.	NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His) GRCh37: Chr19:12762992 GRCh38: Chr19:12652178	MAN2B1	R673H, R674H	Deficiency of alpha-mannosidase	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 241781717.	NM_000528.4(MAN2B1):c.1309+7del GRCh37: Chr19:12768870 GRCh38: Chr19:12658056	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 241523818.	NM_000528.4(MAN2B1):c.1310A>G (p.Asn437Ser) GRCh37: Chr19:12768369 GRCh38: Chr19:12657555	MAN2B1	N436S, N437S	Deficiency of alpha-mannosidase	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 241317619.	NM_000528.4(MAN2B1):c.2970del (p.Thr991fs) GRCh37: Chr19:12757500 GRCh38: Chr19:12646686	MAN2B1	T990fs, T991fs	Deficiency of alpha-mannosidase	Pathogenic	criteria provided, single submitter
Select item 220360520.	NM_000528.4(MAN2B1):c.2821-17C>G GRCh37: Chr19:12758166 GRCh38: Chr19:12647352	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 220298721.	NM_000528.4(MAN2B1):c.771T>A (p.Leu257=) GRCh37: Chr19:12774269 GRCh38: Chr19:12663455	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220198222.	NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly) GRCh37: Chr19:12766678 GRCh38: Chr19:12655864	MAN2B1	S553G, S554G	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220176923.	NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val) GRCh37: Chr19:12776180 GRCh38: Chr19:12665366	MAN2B1	D141V	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220128824.	NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=) GRCh37: Chr19:12772088 GRCh38: Chr19:12661274	MAN2B1		Deficiency of alpha-mannosidase	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 220125625.	NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln) GRCh37: Chr19:12766653 GRCh38: Chr19:12655839	MAN2B1	P561Q, P562Q	Deficiency of alpha-mannosidase	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 220114226.	NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys) GRCh37: Chr19:12774146 GRCh38: Chr19:12663332	MAN2B1	N298K	Deficiency of alpha-mannosidase	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 220113127.	NM_000528.4(MAN2B1):c.954G>A (p.Ser318=) GRCh37: Chr19:12772146 GRCh38: Chr19:12661332	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220030528.	NM_000528.4(MAN2B1):c.437-1G>A GRCh37: Chr19:12775800 GRCh38: Chr19:12664986	MAN2B1		Deficiency of alpha-mannosidase	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 219966129.	NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr) GRCh37: Chr19:12777416 GRCh38: Chr19:12666602	MAN2B1	P34T	Deficiency of alpha-mannosidase	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 219959130.	NM_000528.4(MAN2B1):c.2047-17C>T GRCh37: Chr19:12761053 GRCh38: Chr19:12650239	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219894531.	NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr) GRCh37: Chr19:12763077 GRCh38: Chr19:12652263	MAN2B1	A645T, A646T	Deficiency of alpha-mannosidase	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 219470332.	NM_000528.4(MAN2B1):c.1837C>T (p.Arg613Trp) GRCh37: Chr19:12763268 GRCh38: Chr19:12652454	MAN2B1	R613W, R612W	Deficiency of alpha-mannosidase	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219419033.	NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala) GRCh37: Chr19:12769099 GRCh38: Chr19:12658285	MAN2B1	G390A, G389A	Deficiency of alpha-mannosidase	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 219372834.	NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val) GRCh37: Chr19:12774141 GRCh38: Chr19:12663327	MAN2B1	A300V	Deficiency of alpha-mannosidase, Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219335835.	NM_000528.4(MAN2B1):c.1551C>T (p.Pro517=) GRCh37: Chr19:12767478 GRCh38: Chr19:12656664	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 219331436.	NM_000528.4(MAN2B1):c.2664+13G>A GRCh37: Chr19:12758976 GRCh38: Chr19:12648162	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 219097237.	NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu) GRCh37: Chr19:12760201 GRCh38: Chr19:12649387	MAN2B1	P769L, P770L	Deficiency of alpha-mannosidase	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 219030838.	NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu) GRCh37: Chr19:12776556 GRCh38: Chr19:12665742	MAN2B1	V75L	Deficiency of alpha-mannosidase	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 218999339.	NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg) GRCh37: Chr19:12774609 GRCh38: Chr19:12663795	MAN2B1	Q224R	Deficiency of alpha-mannosidase	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 218970340.	NM_000528.4(MAN2B1):c.923G>A (p.Arg308His) GRCh37: Chr19:12772177 GRCh38: Chr19:12661363	MAN2B1	R308H	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218969241.	NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=) GRCh37: Chr19:12761007 GRCh38: Chr19:12650193	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 218693642.	NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val) GRCh37: Chr19:12774531 GRCh38: Chr19:12663717	MAN2B1	A250V	Deficiency of alpha-mannosidase	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 218614643.	NM_000528.4(MAN2B1):c.2923+20T>A GRCh37: Chr19:12758027 GRCh38: Chr19:12647213	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 218571544.	NM_000528.4(MAN2B1):c.1747G>A (p.Val583Met) GRCh37: Chr19:12766591 GRCh38: Chr19:12655777	MAN2B1	V583M, V582M	Deficiency of alpha-mannosidase	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 218545445.	NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile) GRCh37: Chr19:12767398 GRCh38: Chr19:12656584	MAN2B1	T544I, T543I	Deficiency of alpha-mannosidase	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218545346.	NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=) GRCh37: Chr19:12767391 GRCh38: Chr19:12656577	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 218388547.	NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr) GRCh37: Chr19:12757466 GRCh38: Chr19:12646652	MAN2B1	A1002T, A1001T	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218332948.	NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn) GRCh37: Chr19:12760813 GRCh38: Chr19:12649999	MAN2B1	K727N, K726N	Deficiency of alpha-mannosidase	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 218298549.	NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile) GRCh37: Chr19:12759063 GRCh38: Chr19:12648249	MAN2B1	V863I, V864I	Deficiency of alpha-mannosidase	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218137750.	NM_000528.4(MAN2B1):c.192C>T (p.Asn64=) GRCh37: Chr19:12776587 GRCh38: Chr19:12665773	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 218046351.	NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val) GRCh37: Chr19:12759074 GRCh38: Chr19:12648260	MAN2B1	A859V, A860V	Deficiency of alpha-mannosidase	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218039452.	NM_000528.4(MAN2B1):c.2380C>T (p.Leu794=) GRCh37: Chr19:12760006 GRCh38: Chr19:12649192	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 217836353.	NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val) GRCh37: Chr19:12774135 GRCh38: Chr19:12663321	MAN2B1	A302V	Deficiency of alpha-mannosidase	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 217533954.	NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=) GRCh37: Chr19:12769065 GRCh38: Chr19:12658251	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217350655.	NM_000528.4(MAN2B1):c.415G>A (p.Val139Met) GRCh37: Chr19:12776187 GRCh38: Chr19:12665373	MAN2B1	V139M	Deficiency of alpha-mannosidase	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 217350056.	NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys) GRCh37: Chr19:12766567 GRCh38: Chr19:12655753	MAN2B1	R591C, R590C	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217223457.	NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val) GRCh37: Chr19:12777508 GRCh38: Chr19:12666694	MAN2B1	A3V	Deficiency of alpha-mannosidase	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217009858.	NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr) GRCh37: Chr19:12766539 GRCh38: Chr19:12655725	MAN2B1	S600Y, S599Y	Inborn genetic diseases, Deficiency of alpha-mannosidase	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216929859.	NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg) GRCh37: Chr19:12763007 GRCh38: Chr19:12652193	MAN2B1	P668R, P669R	Deficiency of alpha-mannosidase	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 216917960.	NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr) GRCh37: Chr19:12775785 GRCh38: Chr19:12664971	MAN2B1	A151T	Deficiency of alpha-mannosidase	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216917861.	NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val) GRCh37: Chr19:12767836 GRCh38: Chr19:12657022	MAN2B1	G484V, G485V	Deficiency of alpha-mannosidase	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216905462.	NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg) GRCh37: Chr19:12760814 GRCh38: Chr19:12650000	MAN2B1	K727R, K726R	Deficiency of alpha-mannosidase	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 216809163.	NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=) GRCh37: Chr19:12766637 GRCh38: Chr19:12655823	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 216788364.	NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser) GRCh37: Chr19:12774136 GRCh38: Chr19:12663322	MAN2B1	A302S	Deficiency of alpha-mannosidase	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216761565.	NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly) GRCh37: Chr19:12766635 GRCh38: Chr19:12655821	MAN2B1	A567G, A568G	Deficiency of alpha-mannosidase	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 216603666.	NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln) GRCh37: Chr19:12759174 GRCh38: Chr19:12648360	MAN2B1	E826Q, E827Q	Deficiency of alpha-mannosidase	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 216587467.	NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser) GRCh37: Chr19:12776316 GRCh38: Chr19:12665502	MAN2B1	G96S	Deficiency of alpha-mannosidase	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 216578468.	NM_000528.4(MAN2B1):c.924C>A (p.Arg308=) GRCh37: Chr19:12772176 GRCh38: Chr19:12661362	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216561869.	NM_000528.4(MAN2B1):c.909+20C>A GRCh37: Chr19:12774111 GRCh38: Chr19:12663297	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216449370.	NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His) GRCh37: Chr19:12769069 GRCh38: Chr19:12658255	MAN2B1	R400H, R399H	Deficiency of alpha-mannosidase	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 216443071.	NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=) GRCh37: Chr19:12760785 GRCh38: Chr19:12649971	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 216374272.	NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys) GRCh37: Chr19:12776172 GRCh38: Chr19:12665358	MAN2B1	R144C	Deficiency of alpha-mannosidase	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216310873.	NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly) GRCh37: Chr19:12777374 GRCh38: Chr19:12666560	MAN2B1	R48G	Deficiency of alpha-mannosidase	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216277774.	NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg) GRCh37: Chr19:12757543 GRCh38: Chr19:12646729	MAN2B1	P975R, P976R	Deficiency of alpha-mannosidase	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 216250375.	NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser) GRCh37: Chr19:12759027 GRCh38: Chr19:12648213	MAN2B1	G875S, G876S	Deficiency of alpha-mannosidase	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 216232976.	NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly) GRCh37: Chr19:12766585 GRCh38: Chr19:12655771	MAN2B1	R585G, R584G	Deficiency of alpha-mannosidase	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216181077.	NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu) GRCh37: Chr19:12759035 GRCh38: Chr19:12648221	MAN2B1	P872L, P873L	Deficiency of alpha-mannosidase	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 216145578.	NM_000528.4(MAN2B1):c.263-20C>T GRCh37: Chr19:12776359 GRCh38: Chr19:12665545	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216145379.	NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala) GRCh37: Chr19:12758100 GRCh38: Chr19:12647286	MAN2B1	V957A, V956A	Deficiency of alpha-mannosidase, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 216076080.	NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn) GRCh37: Chr19:12767829 GRCh38: Chr19:12657015	MAN2B1	K486N, K487N	Deficiency of alpha-mannosidase	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 215931781.	NM_000528.4(MAN2B1):c.1420-5C>T GRCh37: Chr19:12767875 GRCh38: Chr19:12657061	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 215831482.	NM_000528.4(MAN2B1):c.2437-10C>G GRCh37: Chr19:12759226 GRCh38: Chr19:12648412	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 5, 2019)	criteria provided, single submitter
Select item 215810483.	NM_000528.4(MAN2B1):c.2665-28_2665-9del GRCh37: Chr19:12758421-12758440 GRCh38: Chr19:12647607-12647626	MAN2B1		Deficiency of alpha-mannosidase	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 215763084.	NM_000528.4(MAN2B1):c.2355+13C>G GRCh37: Chr19:12760142 GRCh38: Chr19:12649328	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 215753685.	NM_000528.4(MAN2B1):c.1527+20G>A GRCh37: Chr19:12767743 GRCh38: Chr19:12656929	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 215620286.	NM_000528.4(MAN2B1):c.2478G>T (p.Ser826=) GRCh37: Chr19:12759175 GRCh38: Chr19:12648361	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 215614987.	NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys) GRCh37: Chr19:12760770 GRCh38: Chr19:12649956	MAN2B1	R742C, R741C	Deficiency of alpha-mannosidase	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 215592388.	NM_000528.4(MAN2B1):c.1511G>C (p.Ser504Thr) GRCh37: Chr19:12767779 GRCh38: Chr19:12656965	MAN2B1	S503T, S504T	Deficiency of alpha-mannosidase	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215554689.	NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro) GRCh37: Chr19:12760231 GRCh38: Chr19:12649417	MAN2B1	R759P, R760P	Deficiency of alpha-mannosidase	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 215511490.	NM_000528.4(MAN2B1):c.431G>A (p.Arg144His) GRCh37: Chr19:12776171 GRCh38: Chr19:12665357	MAN2B1	R144H	Deficiency of alpha-mannosidase	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215454491.	NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met) GRCh37: Chr19:12759048 GRCh38: Chr19:12648234	MAN2B1	V869M, V868M	Deficiency of alpha-mannosidase	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 215359192.	NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln) GRCh37: Chr19:12769064 GRCh38: Chr19:12658250	MAN2B1	E401Q, E402Q	Deficiency of alpha-mannosidase	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215245293.	NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val) GRCh37: Chr19:12774528 GRCh38: Chr19:12663714	MAN2B1	D251V	Deficiency of alpha-mannosidase	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215163594.	NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=) GRCh37: Chr19:12767475 GRCh38: Chr19:12656661	MAN2B1		Deficiency of alpha-mannosidase	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215162795.	NM_000528.4(MAN2B1):c.1645-19C>T GRCh37: Chr19:12766712 GRCh38: Chr19:12655898	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 215128096.	NM_000528.4(MAN2B1):c.2355+20C>T GRCh37: Chr19:12760135 GRCh38: Chr19:12649321	MAN2B1		Deficiency of alpha-mannosidase	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 215063297.	NM_000528.4(MAN2B1):c.910-13C>G GRCh37: Chr19:12772203 GRCh38: Chr19:12661389	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 215056298.	NM_000528.4(MAN2B1):c.1104C>G (p.Leu368=) GRCh37: Chr19:12769247 GRCh38: Chr19:12658433	MAN2B1		Deficiency of alpha-mannosidase	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 215021699.	NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys) GRCh37: Chr19:12774622 GRCh38: Chr19:12663808	MAN2B1	R220C	Deficiency of alpha-mannosidase	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 2150130100.	NM_000528.4(MAN2B1):c.281A>G (p.His94Arg) GRCh37: Chr19:12776321 GRCh38: Chr19:12665507	MAN2B1	H94R	Deficiency of alpha-mannosidase	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter

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