MSX2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 146333	GRCh38/hg38 5q35.2(chr5:173949773-174900395)x1	C5orf47, CPEB4 +16 more	Copy number loss	See cases	GPathogenic
Select item 16964	NC_000005.10:g.174694600_174931940delinsTATAATATGTGTGTATATAATATATATATTACAATATA	LINC01951, LOC110121041 +2 more	Indel	Parietal foramina 1	GPathogenic
Select item 155272	GRCh38/hg38 5q35.2(chr5:174724141-174742787)x1	LOC110121041, MSX2	Copy number loss	See cases	GPathogenic
Select item 1236500	NC_000005.10:g.174724412_174724413insA	MSX2	Insertion	not provided	GBenign
Select item 1292583	NC_000005.10:g.174724436dup	MSX2	Duplication	not provided	GBenign
Select item 1275506	NC_000005.10:g.174724413G>A	MSX2	Single nucleotide variant	not provided	GBenign
Select item 1268873	NC_000005.10:g.174724434_174724436dup	MSX2	Duplication	not provided	GBenign
Select item 1253231	NC_000005.10:g.174724435_174724436dup	MSX2	Duplication	not provided	GBenign
Select item 1260174	NC_000005.10:g.174724435_174724436del	MSX2	Deletion	not provided	GBenign
Select item 1224671	NC_000005.10:g.174724436del	MSX2	Deletion	not provided	GBenign
Select item 1296917	NC_000005.10:g.174724444_174724446dup	MSX2	Duplication	not provided	GBenign
Select item 1281031	NC_000005.10:g.174724445_174724446dup	MSX2	Duplication	not provided	GBenign
Select item 1228514	NC_000005.10:g.174724446dup	MSX2	Duplication	not provided	GBenign
Select item 1225046	NC_000005.10:g.174724439del	MSX2	Deletion	not provided	GBenign
Select item 1178081	NC_000005.10:g.174724464G>A	MSX2	Single nucleotide variant	not provided	GBenign
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 352834	NM_002449.5(MSX2):c.-50C>T	MSX2	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis 2 +1 more	GUncertain significance
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 352836	NM_002449.5(MSX2):c.-17C>G	MSX2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 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 1468499	NM_002449.5(MSX2):c.22A>C (p.Asn8His)	MSX2 (N8H)	Single nucleotide variant (missense variant)	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 2158187	NM_002449.5(MSX2):c.39C>T (p.Pro13=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
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 3254818	NM_002449.5(MSX2):c.44A>G (p.Glu15Gly)	MSX2 (E15G)	Single nucleotide variant (missense variant)	Craniosynostosis 2	GUncertain significance
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 1949625	NM_002449.5(MSX2):c.50G>T (p.Gly17Val)	MSX2 (G17V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
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 1357486	NM_002449.5(MSX2):c.77C>T (p.Pro26Leu)	MSX2 (P26L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	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 1389913	NM_002449.5(MSX2):c.83C>T (p.Pro28Leu)	MSX2 (P28L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
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 1678262	NM_002449.5(MSX2):c.103G>C (p.Ala35Pro)	MSX2 (A35P)	Single nucleotide variant (missense variant)	not provided	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 1651356	NM_002449.5(MSX2):c.117C>T (p.Arg39=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GBenign
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 2898205	NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)	MSX2 (S43P)	Single nucleotide variant (missense variant)	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 1392659	NM_002449.5(MSX2):c.152C>T (p.Ala51Val)	MSX2 (A51V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
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 2087289	NM_002449.5(MSX2):c.163G>C (p.Asp55His)	MSX2 (D55H)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
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 1979332	NM_002449.5(MSX2):c.177C>T (p.Pro59=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
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 1355907	NM_002449.5(MSX2):c.179A>C (p.Lys60Thr)	MSX2 (K60T)	Single nucleotide variant (missense variant)	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 2142894	NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)	MSX2 (P66L)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 1708847	NM_002449.5(MSX2):c.202_210del (p.Glu68_Ala70del)	MSX2	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2582188	NM_002449.5(MSX2):c.214G>A (p.Ala72Thr)	MSX2 (A72T)	Single nucleotide variant (missense variant)	not provided	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 1615024	NM_002449.5(MSX2):c.228G>A (p.Leu76=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
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 2871562	NM_002449.5(MSX2):c.235C>T (p.Leu79=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
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 2077106	NM_002449.5(MSX2):c.254del (p.Gly85fs)	MSX2 (G85fs)	Deletion (frameshift variant)	Cranium bifidum occultum	GPathogenic
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 16965	NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter)	MSX2 (A89*)	Indel (nonsense)	Parietal foramina 1	GPathogenic
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 2741449	NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)	MSX2 (A102P)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	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 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 2547257	NM_002449.5(MSX2):c.317C>T (p.Ser106Leu)	MSX2 (S106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2726611	NM_002449.5(MSX2):c.338C>T (p.Ala113Val)	MSX2 (A113V)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 16966	NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer)	MSX2	Deletion (nonsense)	Parietal foramina 1	GPathogenic
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 2915120	NM_002449.5(MSX2):c.357C>G (p.Pro119=)	MSX2	Single nucleotide variant (synonymous variant)	Cranium bifidum occultum	GLikely benign
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 2758262	NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)	MSX2 (R121G)	Single nucleotide variant (missense variant)	Cranium bifidum occultum	GUncertain significance
Select item 211523	NM_002449.5(MSX2):c.375G>T (p.Pro125=)	MSX2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
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 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 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 2900298	NM_002449.5(MSX2):c.379+11G>A	MSX2	Single nucleotide variant (synonymous variant +1 more)	Cranium bifidum occultum	GLikely benign
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 1246644	NM_002449.5(MSX2):c.379+59G>A	MSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287123	NM_002449.5(MSX2):c.379+68C>T	MSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249014	NM_002449.5(MSX2):c.379+69C>T	MSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218977	NM_002449.5(MSX2):c.379+274G>A	MSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204592	NM_002449.5(MSX2):c.380-305C>T	MSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686701	NM_002449.5(MSX2):c.380-191del	MSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1320529	NM_002449.5(MSX2):c.380-191TG[9]	MSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1230522	NM_002449.5(MSX2):c.380-191TG[12]	MSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221758	NM_002449.5(MSX2):c.380-191TG[11]	MSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1204159	NM_002449.5(MSX2):c.380-191TG[13]	MSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2501322	NM_002449.5(MSX2):c.380-189del	MSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1212824	NM_002449.5(MSX2):c.380-166G>A	MSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691781	NM_002449.5(MSX2):c.380-164_380-161del	MSX2	Deletion	not provided	GLikely benign
Select item 1268251	NM_002449.5(MSX2):c.380-163TA[3]	MSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 802178	NM_002449.5(MSX2):c.380-164G>A	MSX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268547	NM_002449.5(MSX2):c.380-160_380-159del	MSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1195009	NM_002449.5(MSX2):c.380-162A>G	MSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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