10861[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 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 more	Copy number loss	See cases	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 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 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 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
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 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 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 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	ATP5ME, CPLX1 +90 more	Copy number loss	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 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 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	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 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 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 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
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 148049	GRCh38/hg38 4p16.3(chr4:72555-1153038)x1	ATP5ME, CPLX1 +58 more	Copy number loss	See cases	GUncertain significance
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 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 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 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	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 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 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 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 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 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 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 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 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 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	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 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 145218	GRCh38/hg38 4p16.3(chr4:958618-1026629)x3	DGKQ, FGFRL1 +11 more	Copy number gain	See cases	GBenign/Likely benign
Select item 151680	GRCh38/hg38 4p16.3(chr4:958677-1026629)x4	DGKQ, LOC129991972 +10 more	Copy number gain	See cases	GBenign
Select item 151720	GRCh38/hg38 4p16.3(chr4:975137-1026688)x3	FGFRL1, IDUA +7 more	Copy number gain	See cases	GBenign
Select item 145228	GRCh38/hg38 4p16.3(chr4:975137-1026629)x3	FGFRL1, IDUA +7 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1269605	NM_134425.4(SLC26A1):c.*158G>A	SLC26A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1293883	NM_134425.4(SLC26A1):c.577-79C>T	SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271915	NC_000004.12:g.986676A>G	IDUA, LOC129991970 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208686	NC_000004.12:g.986813C>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187622	NC_000004.12:g.986922C>T	SLC26A1, IDUA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 350186	NM_000203.5(IDUA):c.-71C>T	IDUA, SLC26A1	Single nucleotide variant (genic upstream transcript variant +2 more)	Mucopolysaccharidosis type 1 +3 more	GUncertain significance
Select item 2866981	NM_000203.5(IDUA):c.-23_18del (p.Met1fs)	IDUA, SLC26A1 (M1fs)	Deletion (frameshift variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1926190	NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)	SLC26A1, IDUA	Deletion (inframe_deletion +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 990330	NM_000203.5(IDUA):c.-2C>T	IDUA, SLC26A1	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 1323098	NM_000203.5(IDUA):c.1A>G (p.Met1Val)	SLC26A1, IDUA (M1V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 550458	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA, SLC26A1 (M1L)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +1 more	GPathogenic
Select item 639529	NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	IDUA, SLC26A1 (M1T)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 557150	NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	SLC26A1, IDUA (M1I)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +1 more	GLikely pathogenic
Select item 1952762	NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)	SLC26A1, IDUA (R2P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2744372	NM_000203.5(IDUA):c.6T>C (p.Arg2=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2144212	NM_000203.5(IDUA):c.8C>A (p.Pro3His)	IDUA, SLC26A1 (P3H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2108130	NM_000203.5(IDUA):c.9C>T (p.Pro3=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1581834	NM_000203.5(IDUA):c.10C>T (p.Leu4=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 526832	NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	IDUA, SLC26A1 (L4P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2021616	NM_000203.5(IDUA):c.19dup (p.Arg7fs)	IDUA, SLC26A1 (R7fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2789152	NM_000203.5(IDUA):c.15C>G (p.Arg5=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2079488	NM_000203.5(IDUA):c.15C>A (p.Arg5=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1534004	NM_000203.5(IDUA):c.15C>T (p.Arg5=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1648461	NM_000203.5(IDUA):c.18C>T (p.Pro6=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1133318	NM_000203.5(IDUA):c.21C>A (p.Arg7=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign

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