54872[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 1098709	NC_000004.12:g.1_705161del	PIGG, LOC129991945 +25 more	Deletion	not provided	GUncertain significance
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 151213	GRCh38/hg38 4p16.3(chr4:72555-690085)x1	ATP5ME, LOC105374338 +25 more	Copy number loss	See cases	Gconflicting data from submitters
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 60161	GRCh38/hg38 4p16.3(chr4:72555-620625)x1	LOC105374338, LOC126806939 +16 more	Copy number loss	See cases	GUncertain significance
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 60162	GRCh38/hg38 4p16.3(chr4:85149-634761)x1	LOC105374338, LOC126806939 +17 more	Copy number loss	See cases	GUncertain significance
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 145816	GRCh38/hg38 4p16.3(chr4:227660-570745)x3	LOC129991947, LOC129991948 +7 more	Copy number gain	See cases	GLikely benign
Select item 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 1273789	NC_000004.12:g.498959C>G	PIGG, ZNF721	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342094	NC_000004.12:g.499005T>G	PIGG, ZNF721	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326544	NC_000004.12:g.499126T>C	PIGG, ZNF721	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1300670	NC_000004.12:g.499129T>C	ZNF721, PIGG	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1239959	NC_000004.12:g.499142G>A	PIGG, ZNF721	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1300317	NC_000004.12:g.499178C>T	PIGG	Single nucleotide variant	not provided	GLikely benign
Select item 636308	NM_001127178.3(PIGG):c.1A>G (p.Met1Val)	PIGG (M1V)	Single nucleotide variant (missense variant +4 more)	Seizure	GLikely pathogenic
Select item 1532344	NM_001127178.3(PIGG):c.4C>A (p.Arg2=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 3212796	NM_001127178.3(PIGG):c.5G>A (p.Arg2Gln)	PIGG (R2Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1358866	NM_001127178.3(PIGG):c.8T>G (p.Leu3Arg)	PIGG (L3R)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1505565	NM_001127178.3(PIGG):c.14C>A (p.Ser5Tyr)	PIGG (S5Y)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2188777	NM_001127178.3(PIGG):c.17G>A (p.Gly6Glu)	PIGG (G6E)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 3212792	NM_001127178.3(PIGG):c.22T>C (p.Phe8Leu)	PIGG (F8L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1033298	NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser)	PIGG (F8S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 772758	NM_001127178.3(PIGG):c.24C>G (p.Phe8Leu)	PIGG (F8L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2009995	NM_001127178.3(PIGG):c.29C>A (p.Thr10Asn)	PIGG (T10N)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2701441	NM_001127178.3(PIGG):c.30C>T (p.Thr10=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2032420	NM_001127178.3(PIGG):c.33T>C (p.Cys11=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2051118	NM_001127178.3(PIGG):c.35G>A (p.Cys12Tyr)	PIGG (C12Y)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1360848	NM_001127178.3(PIGG):c.35G>C (p.Cys12Ser)	PIGG (C12S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2894062	NM_001127178.3(PIGG):c.36C>T (p.Cys12=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2057523	NM_001127178.3(PIGG):c.39A>G (p.Val13=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 476350	NM_001127178.3(PIGG):c.42G>T (p.Ala14=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 657129	NM_001127178.3(PIGG):c.44T>C (p.Ile15Thr)	PIGG (I15T)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2147953	NM_001127178.3(PIGG):c.47A>C (p.Glu16Ala)	PIGG (E16A)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1700736	NM_001127178.3(PIGG):c.56G>A (p.Gly19Glu)	PIGG (G19E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance

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