Related gene-specific medical variations for Gene (Select 4487) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067988	NM_002448.3(MSX1):c.697G>C (p.Ala233Pro)	MSX1 (A233P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1	GUncertain significance
Select item 3050226	NM_002448.3(MSX1):c.-7G>T	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	MSX1-related condition	GLikely benign
Select item 2885996	NM_002448.3(MSX1):c.260A>G (p.Gln87Arg)	LOC129992137, MSX1 (Q87R)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GBenign
Select item 2664032	NM_002448.3(MSX1):c.641C>T (p.Thr214Met)	MSX1 (T214M)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1	GUncertain significance
Select item 2634175	NM_002448.3(MSX1):c.245C>T (p.Pro82Leu)	LOC129992137, MSX1 (P82L)	Single nucleotide variant (missense variant)	MSX1-related condition	GUncertain significance
Select item 2604023	NM_002448.3(MSX1):c.58G>A (p.Ala20Thr)	LOC129992137, MSX1 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569404	NM_002448.3(MSX1):c.94G>A (p.Ala32Thr)	LOC129992137, MSX1 (A32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569403	NM_002448.3(MSX1):c.106G>A (p.Ala36Thr)	LOC129992137, MSX1 (A36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569402	NM_002448.3(MSX1):c.103G>A (p.Ala35Thr)	LOC129992137, MSX1 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457406	NM_002448.3(MSX1):c.322G>A (p.Ala108Thr)	LOC129992137, MSX1 (A108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429002	NM_002448.3(MSX1):c.250G>T (p.Glu84Ter)	LOC129992137, MSX1 (E84*)	Single nucleotide variant (nonsense)	MSX1-related disorder	GLikely pathogenic
Select item 2363790	NM_002448.3(MSX1):c.196C>A (p.Leu66Ile)	LOC129992137, MSX1 (L66I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321094	NM_002448.3(MSX1):c.130G>A (p.Gly44Ser)	LOC129992137, MSX1 (G44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256160	NM_002448.3(MSX1):c.287T>C (p.Leu96Pro)	LOC129992137, MSX1 (L96P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142904	NM_002448.3(MSX1):c.100A>G (p.Ser34Gly)	LOC129992137, MSX1 (S34G)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 1693302	NM_002448.3(MSX1):c.289G>A (p.Gly97Ser)	LOC129992137, MSX1 (G97S)	Single nucleotide variant (missense variant)	MSX1-related selective tooth agenesis with or without orofacial cleft	GUncertain significance
Select item 1691818	NM_002448.3(MSX1):c.94G>T (p.Ala32Ser)	LOC129992137, MSX1 (A32S)	Single nucleotide variant	not provided	GUncertain significance
Select item 1563606	NM_002448.3(MSX1):c.77G>C (p.Gly26Ala)	LOC129992137, MSX1 (G26A)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 1438990	NM_002448.3(MSX1):c.280C>T (p.Gln94Ter)	LOC129992137, MSX1 (Q94*)	Single nucleotide variant (nonsense)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 1231228	NM_002448.3(MSX1):c.-18G>A	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1170226	NM_002448.3(MSX1):c.297G>C (p.Pro99=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GBenign
Select item 1165584	NM_002448.3(MSX1):c.348C>T (p.Gly116=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1161381	NM_002448.3(MSX1):c.195G>A (p.Ala65=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 1143222	NM_002448.3(MSX1):c.108C>A (p.Ala36=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 931187	NM_002448.3(MSX1):c.89G>A (p.Gly30Asp)	LOC129992137, MSX1 (G30D)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 802050	NM_002448.3(MSX1):c.119C>G (p.Ala40Gly)	LOC129992137, MSX1 (A40G)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 800202	NM_002448.3(MSX1):c.151A>G (p.Lys51Glu)	LOC129992137, MSX1 (K51E)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 772759	NM_002448.3(MSX1):c.65G>A (p.Gly22Asp)	LOC129992137, MSX1 (G22D)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 755832	NM_002448.3(MSX1):c.243G>A (p.Ala81=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703022	NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)	LOC129992137, MSX1 (P73L)	Single nucleotide variant (missense variant)	Orofacial cleft 5 +2 more	GBenign/Likely benign
Select item 647201	NM_002448.3(MSX1):c.102C>G (p.Ser34Arg)	LOC129992137, MSX1 (S34R)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 578158	NM_002448.3(MSX1):c.310G>C (p.Gly104Arg)	LOC129992137, MSX1 (G104R)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 566634	NM_002448.3(MSX1):c.95C>T (p.Ala32Val)	LOC129992137, MSX1 (A32V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 461605	NM_002448.3(MSX1):c.89G>C (p.Gly30Ala)	LOC129992137, MSX1 (G30A)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 461604	NM_002448.3(MSX1):c.86C>T (p.Ala29Val)	LOC129992137, MSX1 (A29V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 461599	NM_002448.3(MSX1):c.324G>T (p.Ala108=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 461598	NM_002448.3(MSX1):c.123C>A (p.Ala41=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 461595	NM_002448.3(MSX1):c.127A>C (p.Met43Leu)	LOC129992137, MSX1 (M43L)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GBenign
Select item 150199	GRCh38/hg38 4p16.2(chr4:4863492-4864627)x1	MSX1	Copy number loss	See cases	GLikely benign
Select item 14887	NM_002448.3(MSX1):c.81dup (p.Gly28fs)	LOC129992137, MSX1 (G28fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 1	GPathogenic
Select item 14886	NM_002448.3(MSX1):c.200T>A (p.Met67Lys)	LOC129992137, MSX1 (M67K)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1	GPathogenic
Select item 14883	NM_002448.3(MSX1):c.251A>T (p.Glu84Val)	LOC129992137, MSX1 (E84V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 14880	NM_002448.3(MSX1):c.332C>A (p.Ser111Ter)	LOC129992137, MSX1 (S111*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 1	GPathogenic

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Items: 43