ClinVar for Gene (Select 4488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373638	NM_002449.5(MSX2):c.476G>A (p.Arg159His)	MSX2 (R159H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3365960	NM_002449.5(MSX2):c.445T>C (p.Phe149Leu)	MSX2 (F149L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3254818	NM_002449.5(MSX2):c.44A>G (p.Glu15Gly)	MSX2 (E15G)	Single nucleotide variant (missense variant)	Craniosynostosis 2	GUncertain significance
Select item 3253116	NM_002449.5(MSX2):c.673C>T (p.Pro225Ser)	MSX2 (P225S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3251670	NM_002449.5(MSX2):c.81G>A (p.Gly27=)	MSX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3234015	NM_002449.5(MSX2):c.764_772del (p.Tyr255_Pro258delinsSer)	MSX2	Deletion (3 prime UTR variant +1 more)	Craniosynostosis 2	GUncertain significance
Select item 3212929	NM_002449.5(MSX2):c.770C>T (p.Thr257Met)	MSX2 (T257M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212908	NM_002449.5(MSX2):c.530G>A (p.Ser177Asn)	MSX2 (S177N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212900	NM_002449.5(MSX2):c.356C>T (p.Pro119Leu)	MSX2 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068988	NM_002449.5(MSX2):c.445T>G (p.Phe149Val)	MSX2 (F149V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3036801	NM_002449.5(MSX2):c.514C>T (p.Arg172Cys)	MSX2 (R172C)	Single nucleotide variant (3 prime UTR variant +1 more)	MSX2-related disorder	GUncertain significance
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 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
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 2630720	NM_002449.5(MSX2):c.721C>G (p.Pro241Ala)	MSX2 (P241A)	Single nucleotide variant (3 prime UTR variant +1 more)	MSX2-related disorder	GUncertain significance
Select item 2629178	NM_002449.5(MSX2):c.695C>T (p.Ala232Val)	MSX2 (A232V)	Single nucleotide variant (3 prime UTR variant +1 more)	MSX2-related disorder	GUncertain significance
Select item 2582188	NM_002449.5(MSX2):c.214G>A (p.Ala72Thr)	MSX2 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581467	NM_002449.5(MSX2):c.789G>T (p.Met263Ile)	MSX2 (M263I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2579819	NM_002449.5(MSX2):c.520G>C (p.Glu174Gln)	MSX2 (E174Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2547257	NM_002449.5(MSX2):c.317C>T (p.Ser106Leu)	MSX2 (S106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538221	NM_002449.5(MSX2):c.718T>C (p.Tyr240His)	MSX2 (Y240H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2502818	NM_002449.5(MSX2):c.722C>G (p.Pro241Arg)	MSX2 (P241R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2501322	NM_002449.5(MSX2):c.380-189del	MSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2442667	NM_002449.5(MSX2):c.1A>G (p.Met1Val)	MSX2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2433809	NM_002449.5(MSX2):c.745A>C (p.Ile249Leu)	MSX2 (I249L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2424449	NC_000005.9:g.(?_174151663)_(174156586_?)dup	MSX2	Duplication	Cranium bifidum occultum	GUncertain significance
Select item 2319976	NM_002449.5(MSX2):c.686C>T (p.Pro229Leu)	MSX2 (P229L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230157	NM_002449.5(MSX2):c.674C>G (p.Pro225Arg)	MSX2 (P225R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209831	NM_002449.5(MSX2):c.232C>T (p.Pro78Ser)	MSX2 (P78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1708847	NM_002449.5(MSX2):c.202_210del (p.Glu68_Ala70del)	MSX2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1696974	NM_002449.5(MSX2):c.592A>G (p.Lys198Glu)	MSX2 (K198E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1691781	NM_002449.5(MSX2):c.380-164_380-161del	MSX2	Deletion	not provided	GLikely benign
Select item 1686701	NM_002449.5(MSX2):c.380-191del	MSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1678262	NM_002449.5(MSX2):c.103G>C (p.Ala35Pro)	MSX2 (A35P)	Single nucleotide variant (missense variant)	not provided	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

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