ClinVar for Gene (Select 4487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212881	NM_002448.3(MSX1):c.853G>A (p.Val285Met)	MSX1 (V285M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212877	NM_002448.3(MSX1):c.769C>G (p.Leu257Val)	MSX1 (L257V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212874	NM_002448.3(MSX1):c.500G>A (p.Arg167His)	MSX1 (R167H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212870	NM_002448.3(MSX1):c.485C>G (p.Pro162Arg)	MSX1 (P162R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212852	NM_002448.3(MSX1):c.223G>C (p.Ala75Pro)	LOC129992137, MSX1 (A75P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3061414	NM_002448.3(MSX1):c.547C>T (p.Gln183Ter)	MSX1 (Q183*)	Single nucleotide variant (nonsense)	MSX1-related condition	GLikely pathogenic
Select item 3051849	NM_002448.3(MSX1):c.546G>A (p.Ala182=)	MSX1	Single nucleotide variant (synonymous variant)	MSX1-related condition	GLikely benign
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 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
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 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
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 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 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 2631265	NM_002448.3(MSX1):c.650A>G (p.Lys217Arg)	MSX1 (K217R)	Single nucleotide variant (missense variant)	MSX1-related condition	GUncertain significance
Select item 2606666	NM_002448.3(MSX1):c.743C>G (p.Pro248Arg)	MSX1 (P248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2574296	NM_002448.3(MSX1):c.682A>G (p.Lys228Glu)	MSX1 (K228E)	Single nucleotide variant (missense variant)	not provided	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 2534963	NM_002448.3(MSX1):c.796G>T (p.Ala266Ser)	MSX1 (A266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490795	NM_002448.3(MSX1):c.431C>G (p.Pro144Arg)	MSX1 (P144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487221	NM_002448.3(MSX1):c.488C>G (p.Ala163Gly)	MSX1 (A163G)	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 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 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 2291069	NM_002448.3(MSX1):c.386A>T (p.Asp129Val)	MSX1 (D129V)	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 2253236	NM_002448.3(MSX1):c.866G>A (p.Gly289Glu)	MSX1 (G289E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220887	NM_002448.3(MSX1):c.361G>T (p.Gly121Trp)	MSX1 (G121W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
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 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1678215	NM_002448.3(MSX1):c.421G>A (p.Glu141Lys)	MSX1 (E141K)	Single nucleotide variant (missense 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 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 1411440	NC_000004.11:g.(?_4861627)_(6304195_?)dup	C4orf50, CRMP1 +8 more	Duplication	not provided	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 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1319948	NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter)	MSX1 (R176*)	Duplication (nonsense)	Orofacial cleft 5	GPathogenic
Select item 1299819	NM_002448.3(MSX1):c.605G>A (p.Arg202His)	MSX1 (R202H)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1287269	NM_002448.3(MSX1):c.469+232A>T	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285892	NC_000004.12:g.4859396G>C	MSX1	Single nucleotide variant	not provided	GBenign
Select item 1285193	NM_002448.3(MSX1):c.469+5G>C	MSX1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1283263	NM_002448.3(MSX1):c.470-152A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283067	NM_002448.3(MSX1):c.470-129G>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258641	NC_000004.12:g.4859409G>T	MSX1	Single nucleotide variant	not provided	GBenign
Select item 1250675	NM_002448.3(MSX1):c.470-127C>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241303	NM_002448.3(MSX1):c.470-47A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236951	NM_002448.3(MSX1):c.469+219G>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232521	NM_002448.3(MSX1):c.470-198A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231228	NM_002448.3(MSX1):c.-18G>A	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1181980	NC_000004.12:g.4859346_4859355del	MSX1	Deletion	not provided	GBenign
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
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

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