ClinVar for MedGen (Select 346753) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664282	NM_002449.5(MSX2):c.441_442dup (p.Pro148fs)	MSX2 (P148fs)	Duplication (3 prime UTR variant +1 more)	Craniosynostosis 2	GPathogenic
Select item 1424628	NM_002449.5(MSX2):c.712G>A (p.Ala238Thr)	MSX2 (A238T)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 931411	NM_002449.5(MSX2):c.793C>T (p.His265Tyr)	MSX2 (H265Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis 2	GUncertain significance
Select item 931029	NM_002449.5(MSX2):c.698dup (p.Ser234fs)	MSX2 (S234fs)	Duplication (3 prime UTR variant +1 more)	Craniosynostosis 2	GUncertain significance
Select item 907630	NM_002449.5(MSX2):c.*1233T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 907629	NM_002449.5(MSX2):c.*1206T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign/Likely benign
Select item 907565	NM_002449.5(MSX2):c.*878C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 907505	NM_002449.5(MSX2):c.*466G>A	MSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 907504	NM_002449.5(MSX2):c.*465C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 907440	NM_002449.5(MSX2):c.751C>T (p.Pro251Ser)	MSX2 (P251S)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum +2 more	GUncertain significance
Select item 906609	NM_002449.5(MSX2):c.*1189G>A	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 906608	NM_002449.5(MSX2):c.*1178C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GBenign
Select item 906549	NM_002449.5(MSX2):c.*644C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 906498	NM_002449.5(MSX2):c.*366T>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 906444	NM_002449.5(MSX2):c.315G>C (p.Lys105Asn)	MSX2 (K105N)	Single nucleotide variant (missense variant)	Craniosynostosis 2 +1 more	GBenign/Likely benign
Select item 905025	NM_002449.5(MSX2):c.*1161C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904959	NM_002449.5(MSX2):c.*635G>A	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GBenign
Select item 904958	NM_002449.5(MSX2):c.*601C>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904896	NM_002449.5(MSX2):c.*183G>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904831	NM_002449.5(MSX2):c.304G>A (p.Ala102Thr)	MSX2 (A102T)	Single nucleotide variant (missense variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904830	NM_002449.5(MSX2):c.286G>T (p.Val96Leu)	MSX2 (V96L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 904829	NM_002449.5(MSX2):c.122A>T (p.Lys41Met)	MSX2 (K41M)	Single nucleotide variant (missense variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904233	NM_002449.5(MSX2):c.*1064A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904232	NM_002449.5(MSX2):c.*1050T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 904178	NM_002449.5(MSX2):c.*516A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904177	NM_002449.5(MSX2):c.*512G>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904120	NM_002449.5(MSX2):c.*157A>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 904119	NM_002449.5(MSX2):c.*126T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 904118	NM_002449.5(MSX2):c.*106C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 904052	NM_002449.5(MSX2):c.-56C>A	MSX2	Single nucleotide variant (5 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352866	NM_002449.5(MSX2):c.*1312A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352865	NM_002449.5(MSX2):c.*1249T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352864	NM_002449.5(MSX2):c.*1176G>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352863	NM_002449.5(MSX2):c.*1146T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352862	NM_002449.5(MSX2):c.*1125A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352861	NM_002449.5(MSX2):c.*1096A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352859	NM_002449.5(MSX2):c.*1007T>A	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352857	NM_002449.5(MSX2):c.*946T>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352856	NM_002449.5(MSX2):c.*863A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352855	NM_002449.5(MSX2):c.*723A>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352854	NM_002449.5(MSX2):c.*658C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352853	NM_002449.5(MSX2):c.*647C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352852	NM_002449.5(MSX2):c.*601C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352851	NM_002449.5(MSX2):c.*530A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352850	NM_002449.5(MSX2):c.*526T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352849	NM_002449.5(MSX2):c.*510A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352848	NM_002449.5(MSX2):c.*416A>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352847	NM_002449.5(MSX2):c.*363A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352846	NM_002449.5(MSX2):c.*349T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352845	NM_002449.5(MSX2):c.*306G>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 352844	NM_002449.5(MSX2):c.*289A>G	MSX2	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 352843	NM_002449.5(MSX2):c.*257T>C	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352842	NM_002449.5(MSX2):c.*172G>A	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GBenign
Select item 352841	NM_002449.5(MSX2):c.*144C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352840	NM_002449.5(MSX2):c.*102C>T	MSX2	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 1 +1 more	GUncertain significance
Select item 352839	NM_002449.5(MSX2):c.*46G>T	MSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 352838	NM_002449.5(MSX2):c.699G>A (p.Ala233=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	MSX2-related condition +3 more	GBenign
Select item 352837	NM_002449.5(MSX2):c.635C>G (p.Ala212Gly)	MSX2 (A212G)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 352836	NM_002449.5(MSX2):c.-17C>G	MSX2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 352835	NM_002449.5(MSX2):c.-42C>T	MSX2	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis 2 +1 more	GBenign/Likely benign
Select item 352834	NM_002449.5(MSX2):c.-50C>T	MSX2	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
Select item 258657	NM_002449.5(MSX2):c.386T>C (p.Met129Thr)	MSX2 (M129T)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum +4 more	GBenign
Select item 219192	NM_002449.5(MSX2):c.443C>T (p.Pro148Leu)	MSX2 (P148L)	Single nucleotide variant (missense variant +1 more)	Cranium bifidum occultum	GPathogenic
Select item 16961	NM_002449.5(MSX2):c.443C>A (p.Pro148His)	MSX2 (P148H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GPathogenic

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Items: 64