ClinVar for MedGen (Select 346753) - ClinVar

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

Result Filters

Links from MedGen

Items: 63

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14246281.	NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) GRCh37: Chr5:174156494 GRCh38: Chr5:174729491	MSX2	A238T	Craniosynostosis 2, Cranium bifidum occultum	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9314112.	NM_002449.5(MSX2):c.793C>T (p.His265Tyr) GRCh37: Chr5:174156575 GRCh38: Chr5:174729572	MSX2	H265Y	Craniosynostosis 2	Uncertain significance (Nov 21, 2018)	criteria provided, single submitter
Select item 9310293.	NM_002449.5(MSX2):c.698dup (p.Ser234fs) GRCh37: Chr5:174156479-174156480 GRCh38: Chr5:174729476-174729477	MSX2	S234fs	Craniosynostosis 2	Uncertain significance (May 24, 2019)	criteria provided, single submitter
Select item 9076304.	NM_002449.5(MSX2):c.*1233T>C GRCh37: Chr5:174157819 GRCh38: Chr5:174730816	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9076295.	NM_002449.5(MSX2):c.*1206T>C GRCh37: Chr5:174157792 GRCh38: Chr5:174730789	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 9075656.	NM_002449.5(MSX2):c.*878C>T GRCh37: Chr5:174157464 GRCh38: Chr5:174730461	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 9075057.	NM_002449.5(MSX2):c.*466G>A GRCh37: Chr5:174157052 GRCh38: Chr5:174730049	MSX2		not provided, Craniosynostosis 2, Parietal foramina 1	Benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9075048.	NM_002449.5(MSX2):c.*465C>T GRCh37: Chr5:174157051 GRCh38: Chr5:174730048	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9074409.	NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) GRCh37: Chr5:174156533 GRCh38: Chr5:174729530	MSX2	P251S	Cranium bifidum occultum, Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90660910.	NM_002449.5(MSX2):c.*1189G>A GRCh37: Chr5:174157775 GRCh38: Chr5:174730772	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90660811.	NM_002449.5(MSX2):c.*1178C>T GRCh37: Chr5:174157764 GRCh38: Chr5:174730761	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90654912.	NM_002449.5(MSX2):c.*644C>T GRCh37: Chr5:174157230 GRCh38: Chr5:174730227	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90649813.	NM_002449.5(MSX2):c.*366T>G GRCh37: Chr5:174156952 GRCh38: Chr5:174729949	MSX2		Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90644414.	NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) GRCh37: Chr5:174151977 GRCh38: Chr5:174724974	MSX2	K105N	Craniosynostosis 2, Parietal foramina 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90502515.	NM_002449.5(MSX2):c.*1161C>T GRCh37: Chr5:174157747 GRCh38: Chr5:174730744	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90495916.	NM_002449.5(MSX2):c.*635G>A GRCh37: Chr5:174157221 GRCh38: Chr5:174730218	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90495817.	NM_002449.5(MSX2):c.*601C>G GRCh37: Chr5:174157187 GRCh38: Chr5:174730184	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90489618.	NM_002449.5(MSX2):c.*183G>T GRCh37: Chr5:174156769 GRCh38: Chr5:174729766	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90483119.	NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) GRCh37: Chr5:174151966 GRCh38: Chr5:174724963	MSX2	A102T	Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90483020.	NM_002449.5(MSX2):c.286G>T (p.Val96Leu) GRCh37: Chr5:174151948 GRCh38: Chr5:174724945	MSX2	V96L	not specified, Parietal foramina 1, Cranium bifidum occultum, Craniosynostosis 2	Conflicting interpretations of pathogenicity (Sep 24, 2021)	criteria provided, conflicting interpretations
Select item 90482921.	NM_002449.5(MSX2):c.122A>T (p.Lys41Met) GRCh37: Chr5:174151784 GRCh38: Chr5:174724781	MSX2	K41M	Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90423322.	NM_002449.5(MSX2):c.*1064A>G GRCh37: Chr5:174157650 GRCh38: Chr5:174730647	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90423223.	NM_002449.5(MSX2):c.*1050T>C GRCh37: Chr5:174157636 GRCh38: Chr5:174730633	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90417824.	NM_002449.5(MSX2):c.*516A>G GRCh37: Chr5:174157102 GRCh38: Chr5:174730099	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90417725.	NM_002449.5(MSX2):c.*512G>T GRCh37: Chr5:174157098 GRCh38: Chr5:174730095	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90412026.	NM_002449.5(MSX2):c.*157A>T GRCh37: Chr5:174156743 GRCh38: Chr5:174729740	MSX2		Craniosynostosis 2, Parietal foramina 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90411927.	NM_002449.5(MSX2):c.*126T>C GRCh37: Chr5:174156712 GRCh38: Chr5:174729709	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90411828.	NM_002449.5(MSX2):c.*106C>T GRCh37: Chr5:174156692 GRCh38: Chr5:174729689	MSX2		Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90405229.	NM_002449.5(MSX2):c.-56C>A GRCh37: Chr5:174151607 GRCh38: Chr5:174724604	MSX2		Craniosynostosis 2, Parietal foramina 1	Benign (Mar 6, 2018)	criteria provided, single submitter
Select item 35286630.	NM_002449.5(MSX2):c.*1312A>G GRCh37: Chr5:174157898 GRCh38: Chr5:174730895	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35286531.	NM_002449.5(MSX2):c.*1249T>C GRCh37: Chr5:174157835 GRCh38: Chr5:174730832	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35286432.	NM_002449.5(MSX2):c.*1176G>C GRCh37: Chr5:174157762 GRCh38: Chr5:174730759	MSX2		Craniosynostosis 2, Parietal foramina 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35286333.	NM_002449.5(MSX2):c.*1146T>C GRCh37: Chr5:174157732 GRCh38: Chr5:174730729	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35286234.	NM_002449.5(MSX2):c.*1125A>G GRCh37: Chr5:174157711 GRCh38: Chr5:174730708	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35286135.	NM_002449.5(MSX2):c.*1096A>G GRCh37: Chr5:174157682 GRCh38: Chr5:174730679	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35285936.	NM_002449.5(MSX2):c.*1007T>A GRCh37: Chr5:174157593 GRCh38: Chr5:174730590	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35285737.	NM_002449.5(MSX2):c.*946T>G GRCh37: Chr5:174157532 GRCh38: Chr5:174730529	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35285638.	NM_002449.5(MSX2):c.*863A>G GRCh37: Chr5:174157449 GRCh38: Chr5:174730446	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35285539.	NM_002449.5(MSX2):c.*723A>C GRCh37: Chr5:174157309 GRCh38: Chr5:174730306	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35285440.	NM_002449.5(MSX2):c.*658C>T GRCh37: Chr5:174157244 GRCh38: Chr5:174730241	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35285341.	NM_002449.5(MSX2):c.*647C>T GRCh37: Chr5:174157233 GRCh38: Chr5:174730230	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35285242.	NM_002449.5(MSX2):c.*601C>T GRCh37: Chr5:174157187 GRCh38: Chr5:174730184	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35285143.	NM_002449.5(MSX2):c.*530A>G GRCh37: Chr5:174157116 GRCh38: Chr5:174730113	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35285044.	NM_002449.5(MSX2):c.*526T>C GRCh37: Chr5:174157112 GRCh38: Chr5:174730109	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35284945.	NM_002449.5(MSX2):c.*510A>G GRCh37: Chr5:174157096 GRCh38: Chr5:174730093	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35284846.	NM_002449.5(MSX2):c.*416A>C GRCh37: Chr5:174157002 GRCh38: Chr5:174729999	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35284747.	NM_002449.5(MSX2):c.*363A>G GRCh37: Chr5:174156949 GRCh38: Chr5:174729946	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35284648.	NM_002449.5(MSX2):c.*349T>C GRCh37: Chr5:174156935 GRCh38: Chr5:174729932	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35284549.	NM_002449.5(MSX2):c.*306G>T GRCh37: Chr5:174156892 GRCh38: Chr5:174729889	MSX2		Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35284450.	NM_002449.5(MSX2):c.*289A>G GRCh37: Chr5:174156875 GRCh38: Chr5:174729872	MSX2		Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35284351.	NM_002449.5(MSX2):c.*257T>C GRCh37: Chr5:174156843 GRCh38: Chr5:174729840	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35284252.	NM_002449.5(MSX2):c.*172G>A GRCh37: Chr5:174156758 GRCh38: Chr5:174729755	MSX2		Parietal foramina 1, Craniosynostosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35284153.	NM_002449.5(MSX2):c.*144C>T GRCh37: Chr5:174156730 GRCh38: Chr5:174729727	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35284054.	NM_002449.5(MSX2):c.*102C>T GRCh37: Chr5:174156688 GRCh38: Chr5:174729685	MSX2		Parietal foramina 1, Craniosynostosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35283955.	NM_002449.5(MSX2):c.*46G>T GRCh37: Chr5:174156632 GRCh38: Chr5:174729629	MSX2		not provided, Craniosynostosis 2, Parietal foramina 1	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 35283856.	NM_002449.5(MSX2):c.699G>A (p.Ala233=) GRCh37: Chr5:174156481 GRCh38: Chr5:174729478	MSX2		Cranium bifidum occultum, Craniosynostosis 2, Parietal foramina 1	Benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35283757.	NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) GRCh37: Chr5:174156417 GRCh38: Chr5:174729414	MSX2	A212G	Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35283658.	NM_002449.5(MSX2):c.-17C>G GRCh37: Chr5:174151646 GRCh38: Chr5:174724643	MSX2		not provided, Craniosynostosis 2, Parietal foramina 1	Benign (Dec 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35283559.	NM_002449.5(MSX2):c.-42C>T GRCh37: Chr5:174151621 GRCh38: Chr5:174724618	MSX2		Craniosynostosis 2, Parietal foramina 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35283460.	NM_002449.5(MSX2):c.-50C>T GRCh37: Chr5:174151613 GRCh38: Chr5:174724610	MSX2		Craniosynostosis 2, Parietal foramina 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25865761.	NM_002449.5(MSX2):c.386T>C (p.Met129Thr) GRCh37: Chr5:174156168 GRCh38: Chr5:174729165	MSX2	M129T	Cranium bifidum occultum, not specified, not provided, Craniosynostosis 2, Parietal foramina 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21919262.	NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) GRCh37: Chr5:174156225 GRCh38: Chr5:174729222	MSX2	P148L	Cranium bifidum occultum	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 1696163.	NM_002449.5(MSX2):c.443C>A (p.Pro148His) GRCh37: Chr5:174156225 GRCh38: Chr5:174729222	MSX2	P148H	Cranium bifidum occultum	Pathogenic (Sep 1, 2021)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 63