ClinVar for MedGen (Select 140809) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019724	NM_002448.3(MSX1):c.371T>A (p.Leu124His)	MSX1 (L124H)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 3017767	NM_002448.3(MSX1):c.912G>A (p.Ter304=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 2962495	NM_002448.3(MSX1):c.624G>C (p.Ser208=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	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 2845871	NM_002448.3(MSX1):c.461C>T (p.Pro154Leu)	MSX1 (P154L)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 2753327	NM_002448.3(MSX1):c.519T>C (p.Arg173=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GLikely benign
Select item 2734641	NM_002448.3(MSX1):c.470-9G>A	MSX1	Single nucleotide variant (intron variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 2727661	NM_002448.3(MSX1):c.426G>A (p.Arg142=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 2663748	NM_002448.3(MSX1):c.787G>C (p.Val263Leu)	MSX1 (V263L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2424448	NC_000004.11:g.(?_4859065)_(4864603_?)del	MSX1	Deletion	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 2424447	NC_000004.11:g.(?_4861627)_(6304195_?)del	JAKMIP1, LINC01587 +8 more	Deletion	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 2420915	NM_002448.3(MSX1):c.545C>T (p.Ala182Val)	MSX1 (A182V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 2161115	NM_002448.3(MSX1):c.438G>A (p.Met146Ile)	MSX1 (M146I)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	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 2108122	NM_002448.3(MSX1):c.629G>A (p.Ser210Asn)	MSX1 (S210N)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 2078308	NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)	MSX1 (W219R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069704	NM_002448.3(MSX1):c.557C>T (p.Ala186Val)	MSX1 (A186V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 2010901	NM_002448.3(MSX1):c.487dup (p.Ala163fs)	MSX1 (A163fs)	Duplication (frameshift variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 1971993	NM_002448.3(MSX1):c.527G>A (p.Arg176Gln)	MSX1 (R176Q)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	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 1503933	NM_002448.3(MSX1):c.850C>T (p.Pro284Ser)	MSX1 (P284S)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
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 1418913	NM_002448.3(MSX1):c.544G>A (p.Ala182Thr)	MSX1 (A182T)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 1406234	NM_002448.3(MSX1):c.741_750del (p.Pro248fs)	MSX1 (P248fs)	Deletion (frameshift variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 1393580	NM_002448.3(MSX1):c.683dup (p.Arg229fs)	MSX1 (R229fs)	Duplication (frameshift variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 1379518	NM_002448.3(MSX1):c.782C>G (p.Ala261Gly)	MSX1 (A261G)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
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 1165757	NM_002448.3(MSX1):c.*6C>T	MSX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 1164251	NM_002448.3(MSX1):c.469+46_469+56del	MSX1	Microsatellite (intron 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 1147466	NM_002448.3(MSX1):c.526C>A (p.Arg176=)	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 1035233	NM_002448.3(MSX1):c.796G>A (p.Ala266Thr)	MSX1 (A266T)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 1026068	NM_002448.3(MSX1):c.670C>T (p.Arg224Cys)	MSX1 (R224C)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 1022700	NM_002448.3(MSX1):c.623C>G (p.Ser208Trp)	MSX1 (S208W)	Single nucleotide variant (missense variant)	MSX1-related condition +1 more	GUncertain significance
Select item 982731	NM_002448.3(MSX1):c.599C>T (p.Ala200Val)	MSX1 (A200V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 947690	NM_002448.3(MSX1):c.581A>G (p.Lys194Arg)	MSX1 (K194R)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
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 845306	NM_002448.3(MSX1):c.655_659del (p.Trp219fs)	MSX1 (W219fs)	Deletion (frameshift variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 835937	NM_002448.3(MSX1):c.682_683del (p.Lys228fs)	MSX1 (K228fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 1 +1 more	GUncertain significance
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 800248	NM_002448.3(MSX1):c.821C>T (p.Ala274Val)	MSX1 (A274V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
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 703322	NM_002448.3(MSX1):c.778C>A (p.Pro260Thr)	MSX1 (P260T)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	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 702889	NM_002448.3(MSX1):c.624G>T (p.Ser208=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 691922	NM_002448.3(MSX1):c.817G>A (p.Gly273Ser)	MSX1 (G273S)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +1 more	GUncertain significance
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 530788	NM_002448.3(MSX1):c.*276A>G	MSX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 461603	NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter)	MSX1 (F251*)	Indel (nonsense)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
Select item 461602	NM_002448.3(MSX1):c.661C>T (p.Gln221Ter)	MSX1 (Q221*)	Single nucleotide variant (nonsense)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
Select item 461601	NM_002448.3(MSX1):c.561G>A (p.Leu187=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 461600	NM_002448.3(MSX1):c.365G>T (p.Gly122Val)	MSX1 (G122V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance
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 225414	NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)	MSX1 (R157S)	Single nucleotide variant (missense variant)	Orofacial cleft 5 +3 more	GConflicting classifications of pathogenicity
Select item 14885	NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)	MSX1 (P153Q)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
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 14882	NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)	MSX1 (S208*)	Single nucleotide variant (nonsense)	MSX1-related condition	GPathogenic

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Items: 66