ClinVar for MedGen (Select 400692) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 330

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25011331.	NM_002435.3(MPI):c.199dup (p.Ser67fs) GRCh37: Chr15:75183773-75183774 GRCh38: Chr15:74891432-74891433	MPI	S17fs, S47fs, S67fs	MPI-congenital disorder of glycosylation	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24414682.	NM_002435.3(MPI):c.1022del (p.Pro341fs) GRCh37: Chr15:75189524 GRCh38: Chr15:74897183	MPI	P280fs, P291fs, P321fs, P341fs	MPI-congenital disorder of glycosylation	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 24337903.	NM_002435.3(MPI):c.995A>T (p.Asp332Val) GRCh37: Chr15:75189502 GRCh38: Chr15:74897161	MPI	D271V, D282V, D312V, D332V	MPI-congenital disorder of glycosylation	Uncertain significance (Jan 30, 2021)	criteria provided, single submitter
Select item 24208864.	NM_002435.3(MPI):c.670+3G>A GRCh37: Chr15:75185664 GRCh38: Chr15:74893323	MPI		MPI-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 24156485.	NM_002435.3(MPI):c.670+9del GRCh37: Chr15:75185670 GRCh38: Chr15:74893329	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 24155626.	NM_002435.3(MPI):c.444G>A (p.Leu148=) GRCh37: Chr15:75185100 GRCh38: Chr15:74892759	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21894557.	NM_002435.3(MPI):c.1207A>T (p.Ser403Cys) GRCh37: Chr15:75190006 GRCh38: Chr15:74897665	MPI	S383C, S353C, S403C, S342C	MPI-congenital disorder of glycosylation	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 21851348.	NM_002435.3(MPI):c.678C>T (p.Ala226=) GRCh37: Chr15:75188500 GRCh38: Chr15:74896159	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 21803499.	NM_002435.3(MPI):c.945C>T (p.Thr315=) GRCh37: Chr15:75189452 GRCh38: Chr15:74897111	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217823710.	NM_002435.3(MPI):c.894G>A (p.Leu298=) GRCh37: Chr15:75189401 GRCh38: Chr15:74897060	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 217433111.	NM_002435.3(MPI):c.989_1005dup (p.Ser336fs) GRCh37: Chr15:75189493-75189494 GRCh38: Chr15:74897152-74897153	MPI	S275fs, S286fs, S316fs, S336fs	MPI-congenital disorder of glycosylation	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 216864512.	NM_002435.3(MPI):c.1054-6G>A GRCh37: Chr15:75189847 GRCh38: Chr15:74897506	MPI		MPI-congenital disorder of glycosylation	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 216735813.	NM_002435.3(MPI):c.587G>A (p.Ser196Asn) GRCh37: Chr15:75185578 GRCh38: Chr15:74893237	MPI	S196N, S146N, S176N	MPI-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216544614.	NM_002435.3(MPI):c.140C>G (p.Ala47Gly) GRCh37: Chr15:75182991 GRCh38: Chr15:74890650	MPI	A47G, A27G	MPI-congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216526015.	NM_002435.3(MPI):c.360G>A (p.Lys120=) GRCh37: Chr15:75185016 GRCh38: Chr15:74892675	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 216289316.	NM_002435.3(MPI):c.170G>T (p.Gly57Val) GRCh37: Chr15:75183745 GRCh38: Chr15:74891404	MPI	G37V, G57V, G7V	MPI-congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 216181617.	NM_002435.3(MPI):c.920C>G (p.Thr307Ser) GRCh37: Chr15:75189427 GRCh38: Chr15:74897086	MPI	T246S, T307S, T257S, T287S	MPI-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215553118.	NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile) GRCh37: Chr15:75183758-75183759 GRCh38: Chr15:74891417-74891418	MPI	L12I, L42I, L62I	MPI-congenital disorder of glycosylation	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 215468619.	NM_002435.3(MPI):c.969_970del (p.Phe324fs) GRCh37: Chr15:75189474-75189475 GRCh38: Chr15:74897133-74897134	MPI	F263fs, F274fs, F324fs, F304fs	MPI-congenital disorder of glycosylation	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 214638920.	NM_002435.3(MPI):c.661T>A (p.Ser221Thr) GRCh37: Chr15:75185652 GRCh38: Chr15:74893311	MPI	S171T, S201T, S221T	MPI-congenital disorder of glycosylation	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 214603021.	NM_002435.3(MPI):c.145-5T>C GRCh37: Chr15:75183715 GRCh38: Chr15:74891374	MPI		MPI-congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 214429222.	NM_002435.3(MPI):c.530C>T (p.Thr177Ile) GRCh37: Chr15:75185521 GRCh38: Chr15:74893180	MPI	T157I, T127I, T177I	MPI-congenital disorder of glycosylation	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 214261223.	NM_002435.3(MPI):c.362T>C (p.Leu121Pro) GRCh37: Chr15:75185018 GRCh38: Chr15:74892677	MPI	L121P, L71P, L101P	MPI-congenital disorder of glycosylation	Uncertain significance (Sep 20, 2020)	criteria provided, single submitter
Select item 213583824.	NM_002435.3(MPI):c.1054-9C>T GRCh37: Chr15:75189844 GRCh38: Chr15:74897503	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213554425.	NM_002435.3(MPI):c.1170G>A (p.Leu390=) GRCh37: Chr15:75189969 GRCh38: Chr15:74897628	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 213046326.	NM_002435.3(MPI):c.144+7C>T GRCh37: Chr15:75183002 GRCh38: Chr15:74890661	MPI		MPI-congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 212373027.	NM_002435.3(MPI):c.670+7A>G GRCh37: Chr15:75185668 GRCh38: Chr15:74893327	MPI		MPI-congenital disorder of glycosylation	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 211280728.	NM_002435.3(MPI):c.845-4C>A GRCh37: Chr15:75189348 GRCh38: Chr15:74897007	MPI		MPI-congenital disorder of glycosylation	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210997129.	NM_002435.3(MPI):c.1137_1140del (p.Ser380fs) GRCh37: Chr15:75189933-75189936 GRCh38: Chr15:74897592-74897595	MPI	S319fs, S380fs, S360fs, S330fs	MPI-congenital disorder of glycosylation	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 209460130.	NM_002435.3(MPI):c.567T>C (p.Ala189=) GRCh37: Chr15:75185558 GRCh38: Chr15:74893217	MPI		MPI-congenital disorder of glycosylation	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 209441731.	NM_002435.3(MPI):c.17-4C>G GRCh37: Chr15:75182864 GRCh38: Chr15:74890523	MPI		MPI-congenital disorder of glycosylation	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 208843232.	NM_002435.3(MPI):c.627G>T (p.Val209=) GRCh37: Chr15:75185618 GRCh38: Chr15:74893277	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 208671333.	NM_002435.3(MPI):c.706dup (p.Glu236fs) GRCh37: Chr15:75188524-75188525 GRCh38: Chr15:74896183-74896184	MPI	E175fs, E186fs, E236fs, E216fs	MPI-congenital disorder of glycosylation	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 208306334.	NM_002435.3(MPI):c.159T>C (p.Thr53=) GRCh37: Chr15:75183734 GRCh38: Chr15:74891393	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207834135.	NM_002435.3(MPI):c.699C>T (p.Ile233=) GRCh37: Chr15:75188521 GRCh38: Chr15:74896180	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 205619336.	NM_002435.3(MPI):c.764_776del (p.Tyr255fs) GRCh37: Chr15:75188584-75188596 GRCh38: Chr15:74896243-74896255	MPI	Y194fs, Y235fs, Y255fs, Y205fs	MPI-congenital disorder of glycosylation	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 204614737.	NM_002435.3(MPI):c.1263T>C (p.Cys421=) GRCh37: Chr15:75190062 GRCh38: Chr15:74897721	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 203337138.	NM_002435.3(MPI):c.969C>G (p.Leu323=) GRCh37: Chr15:75189476 GRCh38: Chr15:74897135	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 202965039.	NM_002435.3(MPI):c.984G>T (p.Arg328=) GRCh37: Chr15:75189491 GRCh38: Chr15:74897150	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202935840.	NM_002435.3(MPI):c.342C>T (p.Asn114=) GRCh37: Chr15:75183917 GRCh38: Chr15:74891576	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202792941.	NM_002435.3(MPI):c.939C>T (p.Ser313=) GRCh37: Chr15:75189446 GRCh38: Chr15:74897105	MPI		MPI-congenital disorder of glycosylation	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202514742.	NM_002435.3(MPI):c.351G>A (p.Leu117=) GRCh37: Chr15:75185007 GRCh38: Chr15:74892666	MPI		MPI-congenital disorder of glycosylation	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202054143.	NM_002435.3(MPI):c.845-9T>C GRCh37: Chr15:75189343 GRCh38: Chr15:74897002	MPI		MPI-congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 201564444.	NM_002435.3(MPI):c.1006_1007del (p.Ser336fs) GRCh37: Chr15:75189510-75189511 GRCh38: Chr15:74897169-74897170	MPI	S316fs, S275fs, S336fs, S286fs	MPI-congenital disorder of glycosylation	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 199811845.	NM_002435.3(MPI):c.531A>G (p.Thr177=) GRCh37: Chr15:75185522 GRCh38: Chr15:74893181	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199074246.	NM_002435.3(MPI):c.843_844+1del GRCh37: Chr15:75188662-75188664 GRCh38: Chr15:74896321-74896323	MPI		MPI-congenital disorder of glycosylation	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 198730547.	NM_002435.3(MPI):c.171G>A (p.Gly57=) GRCh37: Chr15:75183746 GRCh38: Chr15:74891405	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 198464648.	NM_002435.3(MPI):c.465G>A (p.Glu155=) GRCh37: Chr15:75185121 GRCh38: Chr15:74892780	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 196966749.	NM_002435.3(MPI):c.207G>A (p.Lys69=) GRCh37: Chr15:75183782 GRCh38: Chr15:74891441	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 196151650.	NM_002435.3(MPI):c.613G>T (p.Glu205Ter) GRCh37: Chr15:75185604 GRCh38: Chr15:74893263	MPI	E205, E155, E185*	MPI-congenital disorder of glycosylation	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 195811851.	NM_002435.3(MPI):c.765C>T (p.Tyr255=) GRCh37: Chr15:75188587 GRCh38: Chr15:74896246	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 195793452.	NM_002435.3(MPI):c.576C>G (p.Ser192=) GRCh37: Chr15:75185567 GRCh38: Chr15:74893226	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 195782353.	NM_002435.3(MPI):c.417C>T (p.Ala139=) GRCh37: Chr15:75185073 GRCh38: Chr15:74892732	MPI		MPI-congenital disorder of glycosylation	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 195743654.	NM_002435.3(MPI):c.1170G>C (p.Leu390=) GRCh37: Chr15:75189969 GRCh38: Chr15:74897628	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jan 24, 2022)	criteria provided, single submitter
Select item 195044855.	NM_002435.3(MPI):c.657del (p.Ile220fs) GRCh37: Chr15:75185647 GRCh38: Chr15:74893306	MPI	I170fs, I200fs, I220fs	MPI-congenital disorder of glycosylation	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 192388556.	NM_002435.3(MPI):c.845-17G>T GRCh37: Chr15:75189335 GRCh38: Chr15:74896994	MPI		MPI-congenital disorder of glycosylation	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 191881857.	NM_002435.3(MPI):c.124G>C (p.Glu42Gln) GRCh37: Chr15:75182975 GRCh38: Chr15:74890634	MPI	E22Q, E42Q	MPI-congenital disorder of glycosylation	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 190858958.	NM_002435.3(MPI):c.16+8A>T GRCh37: Chr15:75182438 GRCh38: Chr15:74890097	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 167248659.	NM_002435.3(MPI):c.1038C>T (p.Thr346=) GRCh37: Chr15:75189545 GRCh38: Chr15:74897204	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jul 3, 2021)	criteria provided, single submitter
Select item 167021960.	NM_002435.3(MPI):c.488-12G>A GRCh37: Chr15:75185467 GRCh38: Chr15:74893126	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 166710061.	NM_002435.3(MPI):c.1137C>T (p.Ala379=) GRCh37: Chr15:75189936 GRCh38: Chr15:74897595	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 28, 2020)	criteria provided, single submitter
Select item 166617762.	NM_002435.3(MPI):c.488-5T>C GRCh37: Chr15:75185474 GRCh38: Chr15:74893133	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 165844163.	NM_002435.3(MPI):c.591T>C (p.Cys197=) GRCh37: Chr15:75185582 GRCh38: Chr15:74893241	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 165579864.	NM_002435.3(MPI):c.1054-8C>G GRCh37: Chr15:75189845 GRCh38: Chr15:74897504	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 165497665.	NM_002435.3(MPI):c.1271A>G (p.Ter424=) GRCh37: Chr15:75190070 GRCh38: Chr15:74897729	MPI		MPI-congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 165471466.	NM_002435.3(MPI):c.744T>C (p.Asp248=) GRCh37: Chr15:75188566 GRCh38: Chr15:74896225	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 22, 2020)	criteria provided, single submitter
Select item 165403367.	NM_002435.3(MPI):c.144+10G>A GRCh37: Chr15:75183005 GRCh38: Chr15:74890664	MPI		MPI-congenital disorder of glycosylation	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 165104068.	NM_002435.3(MPI):c.1267C>T (p.Leu423=) GRCh37: Chr15:75190066 GRCh38: Chr15:74897725	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 14, 2020)	criteria provided, single submitter
Select item 164713369.	NM_002435.3(MPI):c.396C>T (p.Ala132=) GRCh37: Chr15:75185052 GRCh38: Chr15:74892711	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 1, 2020)	criteria provided, single submitter
Select item 164594170.	NM_002435.3(MPI):c.844+9C>G GRCh37: Chr15:75188675 GRCh38: Chr15:74896334	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 18, 2020)	criteria provided, single submitter
Select item 164195671.	NM_002435.3(MPI):c.249C>A (p.Gly83=) GRCh37: Chr15:75183824 GRCh38: Chr15:74891483	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 164000072.	NM_002435.3(MPI):c.996C>T (p.Asp332=) GRCh37: Chr15:75189503 GRCh38: Chr15:74897162	MPI		MPI-congenital disorder of glycosylation	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 163477573.	NM_002435.3(MPI):c.1269G>C (p.Leu423=) GRCh37: Chr15:75190068 GRCh38: Chr15:74897727	MPI		MPI-congenital disorder of glycosylation	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 163407774.	NM_002435.3(MPI):c.402C>T (p.His134=) GRCh37: Chr15:75185058 GRCh38: Chr15:74892717	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 163287175.	NM_002435.3(MPI):c.18A>G (p.Val6=) GRCh37: Chr15:75182869 GRCh38: Chr15:74890528	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 161983976.	NM_002435.3(MPI):c.264C>T (p.Asp88=) GRCh37: Chr15:75183839 GRCh38: Chr15:74891498	MPI		MPI-congenital disorder of glycosylation	Likely benign (Dec 7, 2020)	criteria provided, single submitter
Select item 161946277.	NM_002435.3(MPI):c.1020C>T (p.Pro340=) GRCh37: Chr15:75189527 GRCh38: Chr15:74897186	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 161869578.	NM_002435.3(MPI):c.319C>T (p.Leu107=) GRCh37: Chr15:75183894 GRCh38: Chr15:74891553	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 161665879.	NM_002435.3(MPI):c.1074A>G (p.Glu358=) GRCh37: Chr15:75189873 GRCh38: Chr15:74897532	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 4, 2021)	criteria provided, single submitter
Select item 161302280.	NM_002435.3(MPI):c.1008A>T (p.Ser336=) GRCh37: Chr15:75189515 GRCh38: Chr15:74897174	MPI		MPI-congenital disorder of glycosylation	Likely benign (Oct 24, 2021)	criteria provided, single submitter
Select item 160932881.	NM_002435.3(MPI):c.816C>G (p.Ala272=) GRCh37: Chr15:75188638 GRCh38: Chr15:74896297	MPI		MPI-congenital disorder of glycosylation	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 160576582.	NM_002435.3(MPI):c.244T>C (p.Leu82=) GRCh37: Chr15:75183819 GRCh38: Chr15:74891478	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 159623183.	NM_002435.3(MPI):c.1236G>A (p.Lys412=) GRCh37: Chr15:75190035 GRCh38: Chr15:74897694	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 159153084.	NM_002435.3(MPI):c.432C>G (p.Pro144=) GRCh37: Chr15:75185088 GRCh38: Chr15:74892747	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 22, 2021)	criteria provided, single submitter
Select item 158589885.	NM_002435.3(MPI):c.723G>A (p.Leu241=) GRCh37: Chr15:75188545 GRCh38: Chr15:74896204	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 158272186.	NM_002435.3(MPI):c.1197G>A (p.Gly399=) GRCh37: Chr15:75189996 GRCh38: Chr15:74897655	MPI		MPI-congenital disorder of glycosylation	Likely benign (Nov 7, 2021)	criteria provided, single submitter
Select item 158254287.	NM_002435.3(MPI):c.810G>C (p.Leu270=) GRCh37: Chr15:75188632 GRCh38: Chr15:74896291	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 156950088.	NM_002435.3(MPI):c.60G>A (p.Lys20=) GRCh37: Chr15:75182911 GRCh38: Chr15:74890570	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 156775289.	NM_002435.3(MPI):c.1054-7T>C GRCh37: Chr15:75189846 GRCh38: Chr15:74897505	MPI		MPI-congenital disorder of glycosylation	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 156376090.	NM_002435.3(MPI):c.315A>C (p.Thr105=) GRCh37: Chr15:75183890 GRCh38: Chr15:74891549	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 3, 2021)	criteria provided, single submitter
Select item 156118091.	NM_002435.3(MPI):c.363G>A (p.Leu121=) GRCh37: Chr15:75185019 GRCh38: Chr15:74892678	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 155714292.	NM_002435.3(MPI):c.732G>A (p.Gln244=) GRCh37: Chr15:75188554 GRCh38: Chr15:74896213	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 155659993.	NM_002435.3(MPI):c.145-9T>C GRCh37: Chr15:75183711 GRCh38: Chr15:74891370	MPI		MPI-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 155415994.	NM_002435.3(MPI):c.783C>A (p.Thr261=) GRCh37: Chr15:75188605 GRCh38: Chr15:74896264	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 23, 2021)	criteria provided, single submitter
Select item 155261195.	NM_002435.3(MPI):c.671-7C>T GRCh37: Chr15:75188486 GRCh38: Chr15:74896145	MPI		MPI-congenital disorder of glycosylation	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 154399796.	NM_002435.3(MPI):c.1095C>T (p.Asp365=) GRCh37: Chr15:75189894 GRCh38: Chr15:74897553	MPI		MPI-congenital disorder of glycosylation	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 154115297.	NM_002435.3(MPI):c.693G>A (p.Glu231=) GRCh37: Chr15:75188515 GRCh38: Chr15:74896174	MPI		MPI-congenital disorder of glycosylation	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 154083898.	NM_002435.3(MPI):c.651G>A (p.Val217=) GRCh37: Chr15:75185642 GRCh38: Chr15:74893301	MPI		MPI-congenital disorder of glycosylation	Likely benign (Mar 13, 2021)	criteria provided, single submitter
Select item 153074599.	NM_002435.3(MPI):c.1152C>T (p.Thr384=) GRCh37: Chr15:75189951 GRCh38: Chr15:74897610	MPI		MPI-congenital disorder of glycosylation	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 1529220100.	NM_002435.3(MPI):c.27T>G (p.Leu9=) GRCh37: Chr15:75182878 GRCh38: Chr15:74890537	MPI		MPI-congenital disorder of glycosylation	Likely benign (Feb 2, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4