ClinVar for MedGen (Select 322968) - ClinVar

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Items: 66

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 20520171.	NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro) GRCh37: Chr17:7490560 GRCh38: Chr17:7587242	MPDU1	S197P	MPDU1-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 19700532.	NM_004870.4(MPDU1):c.170-1G>A GRCh37: Chr17:7489263 GRCh38: Chr17:7585945	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 19564383.	NM_004870.4(MPDU1):c.468G>A (p.Leu156=) GRCh37: Chr17:7490296 GRCh38: Chr17:7586978	MPDU1		MPDU1-congenital disorder of glycosylation	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 19372584.	NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys) GRCh37: Chr17:7490238 GRCh38: Chr17:7586920	MPDU1	Y137C	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 19032505.	NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser) GRCh37: Chr17:7490044 GRCh38: Chr17:7586726	MPDU1	T113S	MPDU1-congenital disorder of glycosylation	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 16619506.	NM_004870.4(MPDU1):c.591C>G (p.Ser197=) GRCh37: Chr17:7490562 GRCh38: Chr17:7587244	MPDU1	P178R	MPDU1-congenital disorder of glycosylation	Likely benign (Dec 16, 2020)	criteria provided, single submitter
Select item 16510947.	NM_004870.4(MPDU1):c.303-9A>G GRCh37: Chr17:7490001 GRCh38: Chr17:7586683	MPDU1		MPDU1-congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 16288528.	NM_004870.4(MPDU1):c.636G>C (p.Leu212=) GRCh37: Chr17:7490761 GRCh38: Chr17:7587443	MPDU1		MPDU1-congenital disorder of glycosylation	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 15826069.	NM_004870.4(MPDU1):c.103+19C>T GRCh37: Chr17:7487302 GRCh38: Chr17:7583984	MPDU1, MPDU1-AS1		MPDU1-congenital disorder of glycosylation	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 151195810.	NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) GRCh37: Chr17:7490756 GRCh38: Chr17:7587438	MPDU1	I191M, P211A	MPDU1-congenital disorder of glycosylation	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 144421911.	NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg) GRCh37: Chr17:7490838 GRCh38: Chr17:7587520	MPDU1	K238R	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 134732712.	NM_004870.4(MPDU1):c.303-16A>G GRCh37: Chr17:7489994 GRCh38: Chr17:7586676	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 133368313.	NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer) GRCh37: Chr17:7487249 GRCh38: Chr17:7583931	LOC100996842, MPDU1		MPDU1-congenital disorder of glycosylation	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 130225214.	NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr) GRCh37: Chr17:7489095 GRCh38: Chr17:7585777	MPDU1	I50T	MPDU1-congenital disorder of glycosylation, not provided	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113781915.	NM_004870.4(MPDU1):c.582T>C (p.Phe194=) GRCh37: Chr17:7490553 GRCh38: Chr17:7587235	MPDU1	L175S	MPDU1-congenital disorder of glycosylation	Likely benign (May 25, 2020)	criteria provided, single submitter
Select item 103662416.	NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu) GRCh37: Chr17:7490544 GRCh38: Chr17:7587226	MPDU1	S172Y, F191L	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 103412717.	NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) GRCh37: Chr17:7487246 GRCh38: Chr17:7583928	LOC100996842, MPDU1	C22W	MPDU1-congenital disorder of glycosylation	Uncertain significance (Oct 28, 2018)	criteria provided, single submitter
Select item 103412618.	NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) GRCh37: Chr17:7490584 GRCh38: Chr17:7587266	MPDU1	I205V	MPDU1-congenital disorder of glycosylation	Uncertain significance (Jul 11, 2018)	criteria provided, single submitter
Select item 101778519.	NM_004870.4(MPDU1):c.184G>A (p.Val62Met) GRCh37: Chr17:7489278 GRCh38: Chr17:7585960	MPDU1	V62M	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 99602920.	NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro) GRCh37: Chr17:7489083 GRCh38: Chr17:7585765	MPDU1	L46P	MPDU1-congenital disorder of glycosylation	Uncertain significance (Dec 12, 2019)	criteria provided, single submitter
Select item 96679621.	NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln) GRCh37: Chr17:7490570 GRCh38: Chr17:7587252	MPDU1	R200Q, E181K	MPDU1-congenital disorder of glycosylation	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 93080122.	NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter) GRCh37: Chr17:7490485 GRCh38: Chr17:7587167	MPDU1	Q172*	MPDU1-congenital disorder of glycosylation	Likely pathogenic (Mar 25, 2020)	criteria provided, single submitter
Select item 89241823.	NM_004870.4(MPDU1):c.*135C>G GRCh37: Chr17:7491004 GRCh38: Chr17:7587686	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89241724.	NM_004870.4(MPDU1):c.*27C>T GRCh37: Chr17:7490896 GRCh38: Chr17:7587578	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89241625.	NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln) GRCh37: Chr17:7490849 GRCh38: Chr17:7587531	MPDU1	K242Q	MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89122826.	NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu) GRCh37: Chr17:7490265 GRCh38: Chr17:7586947	MPDU1	S146L	MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88966427.	NM_004870.4(MPDU1):c.338C>T (p.Thr113Met) GRCh37: Chr17:7490045 GRCh38: Chr17:7586727	MPDU1	T113M	Inborn genetic diseases, MPDU1-congenital disorder of glycosylation	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88966328.	NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu) GRCh37: Chr17:7489283 GRCh38: Chr17:7585965	MPDU1	F63L	MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88966229.	NM_004870.4(MPDU1):c.84T>C (p.Val28=) GRCh37: Chr17:7487264 GRCh38: Chr17:7583946	MPDU1, MPDU1-AS1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88966130.	NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser) GRCh37: Chr17:7487233 GRCh38: Chr17:7583915	MPDU1, MPDU1-AS1	L18S	Inborn genetic diseases, MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88903631.	NM_006942.2(SOX15):c.*175G>A GRCh37: Chr17:7491521 GRCh38: Chr17:7588203	MPDU1, SOX15		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88903532.	NM_004870.4(MPDU1):c.*399G>C GRCh37: Chr17:7491268 GRCh38: Chr17:7587950	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85155133.	NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) GRCh37: Chr17:7490231 GRCh38: Chr17:7586913	MPDU1	A135T	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 84965534.	NM_004870.4(MPDU1):c.729G>C (p.Gln243His) GRCh37: Chr17:7490854 GRCh38: Chr17:7587536	MPDU1	Q243H	MPDU1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 77445535.	NM_004870.4(MPDU1):c.537C>T (p.Asn179=) GRCh37: Chr17:7490508 GRCh38: Chr17:7587190	MPDU1	T160M	MPDU1-congenital disorder of glycosylation	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 70336436.	NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) GRCh37: Chr17:7490777 GRCh38: Chr17:7587459	MPDU1	V218L	MPDU1-congenital disorder of glycosylation	Benign/Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70334637.	NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) GRCh37: Chr17:7490787 GRCh38: Chr17:7587469	MPDU1	S221C	MPDU1-congenital disorder of glycosylation	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 68450838.	NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) GRCh37: Chr17:7487199 GRCh38: Chr17:7583881	MPDU1, MPDU1-AS1	G7*	Inborn genetic diseases	Likely pathogenic (Mar 26, 2021)	criteria provided, single submitter
Select item 68255439.	NM_004870.4(MPDU1):c.672C>T (p.Asn224=) GRCh37: Chr17:7490797 GRCh38: Chr17:7587479	MPDU1		MPDU1-congenital disorder of glycosylation, not provided	Likely benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63179040.	NM_004870.4(MPDU1):c.619-2A>G GRCh37: Chr17:7490742 GRCh38: Chr17:7587424	MPDU1		MPDU1-congenital disorder of glycosylation, not provided	Conflicting interpretations of pathogenicity (Aug 7, 2023)	criteria provided, conflicting interpretations
Select item 57018041.	NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys) GRCh37: Chr17:7487190 GRCh38: Chr17:7583872	MPDU1, MPDU1-AS1	E4K	MPDU1-congenital disorder of glycosylation	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 53301642.	NM_004870.4(MPDU1):c.477del (p.Ser160fs) GRCh37: Chr17:7490304 GRCh38: Chr17:7586986	MPDU1	S160fs	MPDU1-congenital disorder of glycosylation	Uncertain significance (Nov 7, 2017)	criteria provided, single submitter
Select item 52394843.	NM_004870.4(MPDU1):c.511del (p.Leu171fs) GRCh37: Chr17:7490482 GRCh38: Chr17:7587164	MPDU1	S152fs, L171fs	Congenital disorder of glycosylation type I, not provided, MPDU1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Apr 6, 2022)	criteria provided, conflicting interpretations
Select item 49531944.	NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) GRCh37: Chr17:7490084 GRCh38: Chr17:7586766	MPDU1	Q126P	MPDU1-congenital disorder of glycosylation	Likely pathogenic (Jul 15, 2017)	criteria provided, single submitter
Select item 49531845.	NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) GRCh37: Chr17:7490017 GRCh38: Chr17:7586699	MPDU1	G104S	MPDU1-congenital disorder of glycosylation	Likely pathogenic (Jul 15, 2017)	criteria provided, single submitter
Select item 38919746.	NM_004870.4(MPDU1):c.12G>A (p.Glu4=) GRCh37: Chr17:7487192 GRCh38: Chr17:7583874	MPDU1, MPDU1-AS1		MPDU1-congenital disorder of glycosylation, not specified	Likely benign (Jul 13, 2020)	criteria provided, multiple submitters, no conflicts
Select item 38736147.	NM_004870.4(MPDU1):c.618+14C>T GRCh37: Chr17:7490603 GRCh38: Chr17:7587285	MPDU1		not provided, MPDU1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 32552548.	NM_004870.4(MPDU1):c.*462C>T GRCh37: Chr17:7491331 GRCh38: Chr17:7588013	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32552449.	NM_004870.4(MPDU1):c.*308G>T GRCh37: Chr17:7491177 GRCh38: Chr17:7587859	MPDU1		not provided, MPDU1-congenital disorder of glycosylation	Benign (Jul 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32552350.	NM_004870.4(MPDU1):c.*255A>G GRCh37: Chr17:7491124 GRCh38: Chr17:7587806	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32552251.	NM_004870.4(MPDU1):c.*105G>A GRCh37: Chr17:7490974 GRCh38: Chr17:7587656	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32552152.	NM_004870.4(MPDU1):c.735G>A (p.Lys245=) GRCh37: Chr17:7490860 GRCh38: Chr17:7587542	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32552053.	NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) GRCh37: Chr17:7490798 GRCh38: Chr17:7587480	MPDU1	G225S	MPDU1-congenital disorder of glycosylation, not specified	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32551954.	NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) GRCh37: Chr17:7490531 GRCh38: Chr17:7587213	MPDU1	A187V, P168S	Inborn genetic diseases, not provided, MPDU1-congenital disorder of glycosylation	Uncertain significance (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32551855.	NM_004870.4(MPDU1):c.508-9C>T GRCh37: Chr17:7490470 GRCh38: Chr17:7587152	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32551756.	NM_004870.4(MPDU1):c.450C>T (p.Pro150=) GRCh37: Chr17:7490278 GRCh38: Chr17:7586960	MPDU1		MPDU1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32551657.	NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) GRCh37: Chr17:7490239 GRCh38: Chr17:7586921	MPDU1		MPDU1-congenital disorder of glycosylation, not specified	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 32551558.	NM_004870.4(MPDU1):c.393C>T (p.Val131=) GRCh37: Chr17:7490221 GRCh38: Chr17:7586903	MPDU1		MPDU1-congenital disorder of glycosylation, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 32551459.	NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) GRCh37: Chr17:7489067 GRCh38: Chr17:7585749	MPDU1	L41V	MPDU1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Aug 7, 2020)	criteria provided, conflicting interpretations
Select item 32551360.	NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) GRCh37: Chr17:7487223 GRCh38: Chr17:7583905	MPDU1, MPDU1-AS1	P15S	MPDU1-congenital disorder of glycosylation, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 9518161.	NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) GRCh37: Chr17:7490810 GRCh38: Chr17:7587492	MPDU1	A229T	not specified, MPDU1-congenital disorder of glycosylation	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9518062.	NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) GRCh37: Chr17:7490231 GRCh38: Chr17:7586913	MPDU1	A135P	not specified, MPDU1-congenital disorder of glycosylation	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 587163.	NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) GRCh37: Chr17:7489315 GRCh38: Chr17:7585997	MPDU1	L74S	MPDU1-congenital disorder of glycosylation	Pathogenic (Dec 1, 2001)	no assertion criteria provided
Select item 586964.	NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) GRCh37: Chr17:7487182 GRCh38: Chr17:7583864	MPDU1, MPDU1-AS1	M1T	MPDU1-congenital disorder of glycosylation	Pathogenic (Dec 1, 2001)	no assertion criteria provided
Select item 586865.	NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) GRCh37: Chr17:7490063 GRCh38: Chr17:7586745	MPDU1	L119P	MPDU1-congenital disorder of glycosylation	Pathogenic (Dec 1, 2001)	no assertion criteria provided
Select item 586766.	NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) GRCh37: Chr17:7489312 GRCh38: Chr17:7585994	MPDU1	G73E	not provided, MPDU1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Dec 9, 2017)	criteria provided, conflicting interpretations

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Items: 66