4487[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	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 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	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 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 57826	GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3	CYTL1, EVC +29 more	Copy number gain	See cases	GUncertain significance
Select item 57095	GRCh38/hg38 4p16.2(chr4:4810396-5212384)x3	CYTL1, LINC01396 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1181980	NC_000004.12:g.4859346_4859355del	MSX1	Deletion	not provided	GBenign
Select item 1285892	NC_000004.12:g.4859396G>C	MSX1	Single nucleotide variant	not provided	GBenign
Select item 1258641	NC_000004.12:g.4859409G>T	MSX1	Single nucleotide 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 3050226	NM_002448.3(MSX1):c.-7G>T	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	MSX1-related disorder	GLikely benign
Select item 3253517	NM_002448.3(MSX1):c.-2G>A	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3296496	NM_002448.3(MSX1):c.38G>T (p.Gly13Val)	LOC129992137, MSX1 (G13V)	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 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 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 14887	NM_002448.3(MSX1):c.81dup (p.Gly28fs)	LOC129992137, MSX1 (G28fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 1	GPathogenic
Select item 461604	NM_002448.3(MSX1):c.86C>T (p.Ala29Val)	LOC129992137, MSX1 (A29V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
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 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 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 1691818	NM_002448.3(MSX1):c.94G>T (p.Ala32Ser)	LOC129992137, MSX1 (A32S)	Single nucleotide variant	not provided	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 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 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 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 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 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 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 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 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 800202	NM_002448.3(MSX1):c.151A>G (p.Lys51Glu)	LOC129992137, MSX1 (K51E)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GBenign
Select item 3296495	NM_002448.3(MSX1):c.194C>A (p.Ala65Glu)	LOC129992137, MSX1 (A65E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 703022	NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)	LOC129992137, MSX1 (P73L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1 +2 more	GBenign/Likely benign
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 755832	NM_002448.3(MSX1):c.243G>A (p.Ala81=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634175	NM_002448.3(MSX1):c.245C>T (p.Pro82Leu)	LOC129992137, MSX1 (P82L)	Single nucleotide variant (missense variant)	MSX1-related disorder	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 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 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 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 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 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 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 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 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 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 14880	NM_002448.3(MSX1):c.332C>A (p.Ser111Ter)	LOC129992137, MSX1 (S111*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 1	GPathogenic
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 2220887	NM_002448.3(MSX1):c.361G>T (p.Gly121Trp)	MSX1 (G121W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 14884	NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)	MSX1 (G122E)	Single nucleotide variant (missense variant)	Orofacial cleft 5	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 2291069	NM_002448.3(MSX1):c.386A>T (p.Asp129Val)	MSX1 (D129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2490795	NM_002448.3(MSX1):c.431C>G (p.Pro144Arg)	MSX1 (P144R)	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

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