ClinVar for MedGen (Select 414534) - ClinVar

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

Result Filters

Links from MedGen

Items: 43

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24134731.	NM_153741.2(DPM3):c.59C>T (p.Ala20Val) GRCh37: Chr1:155112658 GRCh38: Chr1:155140182	DPM3	A20V, A50V	DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21433892.	NM_153741.2(DPM3):c.104A>G (p.Gln35Arg) GRCh37: Chr1:155112613 GRCh38: Chr1:155140137	DPM3	Q35R, Q65R	DPM3-congenital disorder of glycosylation	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 21046553.	NM_153741.2(DPM3):c.215G>A (p.Arg72His) GRCh37: Chr1:155112502 GRCh38: Chr1:155140026	DPM3	R102H, R72H	DPM3-congenital disorder of glycosylation	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 20852634.	NM_153741.2(DPM3):c.81C>T (p.Gly27=) GRCh37: Chr1:155112636 GRCh38: Chr1:155140160	DPM3		DPM3-congenital disorder of glycosylation	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 20613755.	NM_153741.2(DPM3):c.193C>T (p.His65Tyr) GRCh37: Chr1:155112524 GRCh38: Chr1:155140048	DPM3	H65Y, H95Y	DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 20480656.	NM_153741.2(DPM3):c.11T>C (p.Leu4Ser) GRCh37: Chr1:155112706 GRCh38: Chr1:155140230	DPM3	L34S, L4S	DPM3-congenital disorder of glycosylation	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 20433557.	NM_153741.2(DPM3):c.5del (p.Thr2fs) GRCh37: Chr1:155112712 GRCh38: Chr1:155140236	DPM3	T32fs, T2fs	DPM3-congenital disorder of glycosylation	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 19897788.	NM_153741.2(DPM3):c.27G>A (p.Trp9Ter) GRCh37: Chr1:155112690 GRCh38: Chr1:155140214	DPM3	W9, W39	DPM3-congenital disorder of glycosylation	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 19832769.	NM_153741.2(DPM3):c.6G>A (p.Thr2=) GRCh37: Chr1:155112711 GRCh38: Chr1:155140235	DPM3		DPM3-congenital disorder of glycosylation	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 198109410.	NM_153741.2(DPM3):c.179del (p.Arg60fs) GRCh37: Chr1:155112538 GRCh38: Chr1:155140062	DPM3	R90fs, R60fs	DPM3-congenital disorder of glycosylation	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 160854111.	NM_153741.2(DPM3):c.111C>T (p.Val37=) GRCh37: Chr1:155112606 GRCh38: Chr1:155140130	DPM3		DPM3-congenital disorder of glycosylation	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 149348212.	NM_153741.2(DPM3):c.29G>A (p.Gly10Glu) GRCh37: Chr1:155112688 GRCh38: Chr1:155140212	DPM3	G10E, G40E	DPM3-congenital disorder of glycosylation	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 149126213.	NM_153741.2(DPM3):c.44G>T (p.Gly15Val) GRCh37: Chr1:155112673 GRCh38: Chr1:155140197	DPM3	G15V, G45V	DPM3-congenital disorder of glycosylation	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 144601614.	NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) GRCh37: Chr1:155112473 GRCh38: Chr1:155139997	DPM3	R82, R112	DPM3-congenital disorder of glycosylation	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 141285315.	NC_000001.10:g.(?_155112438)_(155112716_?)dup GRCh37: Chr1:155112438-155112716	DPM3		DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 141017216.	NM_153741.2(DPM3):c.19T>C (p.Trp7Arg) GRCh37: Chr1:155112698 GRCh38: Chr1:155140222	DPM3	W37R, W7R	DPM3-congenital disorder of glycosylation	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 140746217.	NM_153741.2(DPM3):c.184G>C (p.Ala62Pro) GRCh37: Chr1:155112533 GRCh38: Chr1:155140057	DPM3	A92P, A62P	DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 138387418.	NM_153741.2(DPM3):c.248C>T (p.Ala83Val) GRCh37: Chr1:155112469 GRCh38: Chr1:155139993	DPM3	A113V, A83V	DPM3-congenital disorder of glycosylation	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 116744819.	NM_153741.2(DPM3):c.112C>T (p.Leu38=) GRCh37: Chr1:155112605 GRCh38: Chr1:155140129	DPM3		DPM3-congenital disorder of glycosylation	Benign (Mar 18, 2022)	criteria provided, single submitter
Select item 107409820.	NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) GRCh37: Chr1:155112488 GRCh38: Chr1:155140012	DPM3	Q107, Q77	DPM3-congenital disorder of glycosylation	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 106096721.	NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) GRCh37: Chr1:155112587-155112588 GRCh38: Chr1:155140111-155140112	DPM3	Y44fs, Y74fs	DPM3-congenital disorder of glycosylation	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 101624422.	NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) GRCh37: Chr1:155112521 GRCh38: Chr1:155140045	DPM3	D66Y, D96Y	DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 100417623.	NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) GRCh37: Chr1:155112460 GRCh38: Chr1:155139984	DPM3	A116D, A86D	not provided, DPM3-congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95652124.	NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) GRCh37: Chr1:155112509 GRCh38: Chr1:155140033	DPM3	A100T, A70T	DPM3-congenital disorder of glycosylation	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 87356825.	NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) GRCh37: Chr1:155112539 GRCh38: Chr1:155140063	DPM3	R60C, R90C	DPM3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 86313626.	NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) GRCh37: Chr1:155112590 GRCh38: Chr1:155140114	DPM3	A43T, A73T	DPM3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 85304027.	NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) GRCh37: Chr1:155112451 GRCh38: Chr1:155139975	DPM3	G119E, G89E	not provided, DPM3-congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83525528.	NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) GRCh37: Chr1:155112689 GRCh38: Chr1:155140213	DPM3	G10R, G40R	DPM3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83215929.	NC_000001.11:g.(?_155139952)_(155140340_?)dup GRCh37: Chr1:155112428-155112816	DPM3		DPM3-congenital disorder of glycosylation	Uncertain significance (Sep 7, 2019)	criteria provided, single submitter
Select item 69429230.	NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) GRCh37: Chr1:155112593 GRCh38: Chr1:155140117	DPM3	P72A, P42A	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, DPM3-congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Aug 25, 2020)	no assertion criteria provided
Select item 69427831.	NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) GRCh37: Chr1:155112463 GRCh38: Chr1:155139987	DPM3	L85, L115	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, DPM3-congenital disorder of glycosylation	Pathogenic (Aug 25, 2020)	no assertion criteria provided
Select item 66145232.	NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) GRCh37: Chr1:155112622 GRCh38: Chr1:155140146	DPM3	L32S, L62S	DPM3-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 65848133.	NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) GRCh37: Chr1:155112696 GRCh38: Chr1:155140220	DPM3	W7, W37	DPM3-congenital disorder of glycosylation	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 65778334.	NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) GRCh37: Chr1:155112541 GRCh38: Chr1:155140065	DPM3	Y59S, Y89S	DPM3-congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 58502135.	NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) GRCh37: Chr1:155112676 GRCh38: Chr1:155140200	DPM3	L44P, L14P	DPM3-congenital disorder of glycosylation	Pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 58281136.	NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) GRCh37: Chr1:155112499 GRCh38: Chr1:155140023	DPM3	E73A, E103A	DPM3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 53843337.	NM_153741.2(DPM3):c.48C>T (p.Ser16=) GRCh37: Chr1:155112669 GRCh38: Chr1:155140193	DPM3		DPM3-congenital disorder of glycosylation	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 53843238.	NM_153741.2(DPM3):c.55G>T (p.Val19Leu) GRCh37: Chr1:155112662 GRCh38: Chr1:155140186	DPM3	V19L, V49L	Inborn genetic diseases, DPM3-congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53843139.	NM_153741.2(DPM3):c.185C>T (p.Ala62Val) GRCh37: Chr1:155112532 GRCh38: Chr1:155140056	DPM3	A62V, A92V	DPM3-congenital disorder of glycosylation	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 47106340.	NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) GRCh37: Chr1:155112538 GRCh38: Chr1:155140062	DPM3	R60L, R90L	DPM3-congenital disorder of glycosylation	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 38748941.	NM_153741.2(DPM3):c.60C>T (p.Ala20=) GRCh37: Chr1:155112657 GRCh38: Chr1:155140181	DPM3		DPM3-congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29278942.	NM_153741.2(DPM3):c.249C>A (p.Ala83=) GRCh37: Chr1:155112468 GRCh38: Chr1:155139992	DPM3		not provided, DPM3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 470243.	NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) GRCh37: Chr1:155112463 GRCh38: Chr1:155139987	DPM3	L85S, L115S	DPM3-congenital disorder of glycosylation	Pathogenic (Jul 1, 2009)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 43