ClinVar for MedGen (Select 358250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019008	NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)	MSX2 (A72G)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 3009146	NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)	MSX2 (T151I)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 3007245	NM_002449.5(MSX2):c.444C>T (p.Pro148=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GBenign
Select item 3003551	NM_002449.5(MSX2):c.474G>A (p.Glu158=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 3001006	NM_002449.5(MSX2):c.762C>G (p.Leu254=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2985510	NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)	MSX2 (M129T)	Inversion (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2919771	NM_002449.5(MSX2):c.771G>A (p.Thr257=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2916548	NM_002449.5(MSX2):c.380-17CT[3]	MSX2	Microsatellite (intron variant)	Cranium bifidum occultum	GLikely benign
Select item 2915120	NM_002449.5(MSX2):c.357C>G (p.Pro119=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 2913549	NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)	MSX2 (F242L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2908873	NM_002449.5(MSX2):c.613C>G (p.Leu205Val)	MSX2 (L205V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2907304	NM_002449.5(MSX2):c.2T>C (p.Met1Thr)	MSX2 (M1T)	Single nucleotide variant (missense variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2900298	NM_002449.5(MSX2):c.379+11G>A	MSX2	Single nucleotide variant (synonymous variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2899561	NM_002449.5(MSX2):c.332A>T (p.Asp111Val)	MSX2 (D111V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2898205	NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)	MSX2 (S43P)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2897049	NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)	MSX2 (Y255C)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2889152	NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)	MSX2 (P66R)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2871562	NM_002449.5(MSX2):c.235C>T (p.Leu79=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 2813993	NM_002449.5(MSX2):c.213G>T (p.Ser71=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 2808031	NM_002449.5(MSX2):c.157A>C (p.Met53Leu)	MSX2 (M53L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2787587	NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)	MSX2 (S218F)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2758262	NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)	MSX2 (R121G)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2751669	NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)	MSX2 (K160R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2749081	NM_002449.5(MSX2):c.380-16T>A	MSX2	Single nucleotide variant (intron variant)	Cranium bifidum occultum	GLikely benign
Select item 2741449	NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)	MSX2 (A102P)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2726611	NM_002449.5(MSX2):c.338C>T (p.Ala113Val)	MSX2 (A113V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2721852	NM_002449.5(MSX2):c.379+13C>T	MSX2 (P131L)	Single nucleotide variant (missense variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2716797	NM_002449.5(MSX2):c.591G>A (p.Ala197=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2534198	NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)	MSX2 (P241L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2424449	NC_000005.9:g.(?_174151663)_(174156586_?)dup	MSX2	Duplication	Cranium bifidum occultum	GUncertain significance
Select item 2173106	NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)	MSX2 (T151A)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2168870	NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)	MSX2 (E15K)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2165794	NM_002449.5(MSX2):c.597A>G (p.Arg199=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2158187	NM_002449.5(MSX2):c.39C>T (p.Pro13=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 2142894	NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)	MSX2 (P66L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2106815	NM_002449.5(MSX2):c.645G>A (p.Met215Ile)	MSX2 (M215I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2105107	NM_002449.5(MSX2):c.437G>A (p.Arg146His)	MSX2 (R146H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2087289	NM_002449.5(MSX2):c.163G>C (p.Asp55His)	MSX2 (D55H)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 2079726	NM_002449.5(MSX2):c.380-11C>G	MSX2	Single nucleotide variant (intron variant)	Cranium bifidum occultum	GLikely benign
Select item 2077694	NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)	MSX2 (S228L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2077106	NM_002449.5(MSX2):c.254del (p.Gly85fs)	MSX2 (G85fs)	Deletion (frameshift variant)	Cranium bifidum occultum	GPathogenic
Select item 2062658	NM_002449.5(MSX2):c.789G>A (p.Met263Ile)	MSX2 (M263I)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 2058450	NM_002449.5(MSX2):c.643A>T (p.Met215Leu)	MSX2 (M215L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum +1 more	GUncertain significance
Select item 2049884	NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)	MSX2 (R39L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum +1 more	GUncertain significance
Select item 2049602	NM_002449.5(MSX2):c.528C>T (p.Ser176=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2037990	NM_002449.5(MSX2):c.465C>T (p.Leu155=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 2026310	NM_002449.5(MSX2):c.23A>G (p.Asn8Ser)	MSX2 (N8S)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GLikely benign
Select item 1979332	NM_002449.5(MSX2):c.177C>T (p.Pro59=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 1978706	NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)	MSX2 (G25R)	Single nucleotide variant (missense variant)	Cranium bifidum occultum +1 more	GUncertain significance
Select item 1949625	NM_002449.5(MSX2):c.50G>T (p.Gly17Val)	MSX2 (G17V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1929251	NM_002449.5(MSX2):c.501C>T (p.Leu167=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1926096	NM_002449.5(MSX2):c.798G>C (p.Leu266=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1923705	NM_002449.5(MSX2):c.380-18C>T	MSX2	Single nucleotide variant (intron variant)	Cranium bifidum occultum	GBenign
Select item 1914596	NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)	MSX2 (F224L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1670927	NM_002449.5(MSX2):c.380-18C>G	MSX2	Single nucleotide variant (intron variant)	Cranium bifidum occultum	GLikely benign
Select item 1668325	NM_002449.5(MSX2):c.174G>A (p.Pro58=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 1651356	NM_002449.5(MSX2):c.117C>T (p.Arg39=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GBenign
Select item 1618164	NM_002449.5(MSX2):c.252C>T (p.His84=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 1615024	NM_002449.5(MSX2):c.228G>A (p.Leu76=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 1609559	NM_002449.5(MSX2):c.750G>A (p.Pro250=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1590525	NM_002449.5(MSX2):c.379+9G>A	MSX2 (A130T)	Single nucleotide variant (missense variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1568159	NM_002449.5(MSX2):c.756G>A (p.Val252=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GBenign
Select item 1563152	NM_002449.5(MSX2):c.49G>A (p.Gly17Ser)	MSX2 (G17S)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GBenign
Select item 1528926	NM_002449.5(MSX2):c.379+7G>C	MSX2 (C129S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1498203	NM_002449.5(MSX2):c.428G>A (p.Arg143Gln)	MSX2 (R143Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1477409	NM_002449.5(MSX2):c.749C>T (p.Pro250Leu)	MSX2 (P250L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1468499	NM_002449.5(MSX2):c.22A>C (p.Asn8His)	MSX2 (N8H)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GLikely benign
Select item 1468184	NM_002449.5(MSX2):c.95A>T (p.Glu32Val)	MSX2 (E32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446205	NM_002449.5(MSX2):c.178A>C (p.Lys60Gln)	MSX2 (K60Q)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1428798	NM_002449.5(MSX2):c.457C>T (p.Gln153Ter)	MSX2 (Q153*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	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 1392659	NM_002449.5(MSX2):c.152C>T (p.Ala51Val)	MSX2 (A51V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1389913	NM_002449.5(MSX2):c.83C>T (p.Pro28Leu)	MSX2 (P28L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1381522	NM_002449.5(MSX2):c.484C>T (p.Arg162Cys)	MSX2 (R162C)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1376736	NM_002449.5(MSX2):c.143G>C (p.Ser48Thr)	MSX2 (S48T)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1370999	NM_002449.5(MSX2):c.449C>G (p.Thr150Ser)	MSX2 (T150S)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1361258	NM_002449.5(MSX2):c.505A>G (p.Ile169Val)	MSX2 (I169V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1357486	NM_002449.5(MSX2):c.77C>T (p.Pro26Leu)	MSX2 (P26L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1355907	NM_002449.5(MSX2):c.179A>C (p.Lys60Thr)	MSX2 (K60T)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1104168	NM_002449.5(MSX2):c.379+8C>G	MSX2 (C129W)	Single nucleotide variant (missense variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 1050430	NM_002449.5(MSX2):c.572A>G (p.Gln191Arg)	MSX2 (Q191R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 1002419	NM_002449.5(MSX2):c.745A>G (p.Ile249Val)	MSX2 (I249V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	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)	Craniosynostosis 2 +3 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 779755	NM_002449.5(MSX2):c.380-9G>C	MSX2	Single nucleotide variant (intron variant)	Cranium bifidum occultum	GLikely benign
Select item 760463	NM_002449.5(MSX2):c.803A>G (p.Ter268=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GLikely benign
Select item 697825	NM_002449.5(MSX2):c.723G>A (p.Pro241=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GBenign
Select item 649848	NM_002449.5(MSX2):c.255C>T (p.Gly85=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 639933	NM_002449.5(MSX2):c.442C>T (p.Pro148Ser)	MSX2 (P148S)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 536455	NM_002449.5(MSX2):c.698C>T (p.Ala233Val)	MSX2 (A233V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GUncertain significance
Select item 468577	NM_002449.5(MSX2):c.360C>T (p.Gly120=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 352860	NM_002449.5(MSX2):c.*1086dup	MSX2	Duplication (3 prime UTR variant)	Cranium bifidum occultum +1 more	GLikely benign
Select item 352858	NM_002449.5(MSX2):c.*1006dup	MSX2	Duplication (3 prime UTR variant)	Cranium bifidum occultum +1 more	GBenign
Select item 352838	NM_002449.5(MSX2):c.699G>A (p.Ala233=)	MSX2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis 2 +2 more	GBenign
Select item 304718	NM_021926.3(ALX4):c.-81C>T	ALX4	Single nucleotide variant	Cranium bifidum occultum	GUncertain significance
Select item 304713	NM_021926.4(ALX4):c.217C>T (p.Leu73=)	ALX4	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
Select item 304689	NM_021926.4(ALX4):c.*424dup	ALX4	Duplication (3 prime UTR variant)	Cranium bifidum occultum	GLikely benign
Select item 304683	NM_021926.4(ALX4):c.*804AAG[1]	ALX4	Microsatellite (3 prime UTR variant)	Cranium bifidum occultum	GLikely benign
Select item 304662	NM_021926.4(ALX4):c.*1346del	ALX4	Deletion (3 prime UTR variant)	Cranium bifidum occultum	GUncertain significance
Select item 304613	NM_021926.4(ALX4):c.3755_3760del	ALX4	Deletion (3 prime UTR variant)	Cranium bifidum occultum	GUncertain significance

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