ZFYVE28[gene] - 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 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 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 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 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 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 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 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 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 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 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 148893	GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3	FGFR3, HAUS3 +37 more	Copy number gain	See cases	GUncertain significance
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 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 3334614	NM_020972.3(ZFYVE28):c.2654C>G (p.Ala885Gly)	ZFYVE28 (A815G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334618	NM_020972.3(ZFYVE28):c.2620A>G (p.Met874Val)	ZFYVE28 (M874V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334612	NM_020972.3(ZFYVE28):c.2594C>A (p.Pro865Gln)	ZFYVE28 (P795Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606768	NM_020972.3(ZFYVE28):c.2594C>T (p.Pro865Leu)	ZFYVE28 (P835L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193433	NM_020972.3(ZFYVE28):c.2555C>T (p.Ser852Leu)	ZFYVE28 (S782L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286618	NM_020972.3(ZFYVE28):c.2538C>G (p.Phe846Leu)	ZFYVE28 (F776L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386421	NM_020972.3(ZFYVE28):c.2471C>T (p.Thr824Met)	ZFYVE28 (T824M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193432	NM_020972.3(ZFYVE28):c.2432C>G (p.Pro811Arg)	ZFYVE28 (P781R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193431	NM_020972.3(ZFYVE28):c.2228C>T (p.Thr743Met)	ZFYVE28 (T713M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208925	NM_020972.3(ZFYVE28):c.2194G>A (p.Val732Ile)	ZFYVE28 (V702I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193430	NM_020972.3(ZFYVE28):c.2164G>A (p.Gly722Ser)	ZFYVE28 (G722S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620037	NM_020972.3(ZFYVE28):c.2149C>T (p.Arg717Trp)	ZFYVE28 (R647W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193429	NM_020972.3(ZFYVE28):c.2135C>T (p.Thr712Ile)	ZFYVE28 (T642I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394689	NM_020972.3(ZFYVE28):c.2099C>T (p.Ala700Val)	ZFYVE28 (A670V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193428	NM_020972.3(ZFYVE28):c.2023G>A (p.Glu675Lys)	ZFYVE28 (E645K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713067	NM_020972.3(ZFYVE28):c.2022C>T (p.His674=)	ZFYVE28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482724	NM_020972.3(ZFYVE28):c.2020C>G (p.His674Asp)	ZFYVE28 (H604D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193427	NM_020972.3(ZFYVE28):c.2018C>T (p.Ala673Val)	ZFYVE28 (A673V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193426	NM_020972.3(ZFYVE28):c.2011C>T (p.Pro671Ser)	ZFYVE28 (P671S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282434	NM_020972.3(ZFYVE28):c.2010C>A (p.Ser670Arg)	ZFYVE28 (S670R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357767	NM_020972.3(ZFYVE28):c.1937C>T (p.Ala646Val)	ZFYVE28 (A576V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334557	NM_020972.3(ZFYVE28):c.1903C>G (p.Leu635Val)	ZFYVE28 (L605V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193425	NM_020972.3(ZFYVE28):c.1838C>T (p.Ala613Val)	ZFYVE28 (A543V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334608	NM_020972.3(ZFYVE28):c.1819C>A (p.Pro607Thr)	ZFYVE28 (P607T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594667	NM_020972.3(ZFYVE28):c.1817C>T (p.Ala606Val)	ZFYVE28 (A536V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339526	NM_020972.3(ZFYVE28):c.1792G>T (p.Gly598Cys)	ZFYVE28 (G568C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511262	NM_020972.3(ZFYVE28):c.1790C>T (p.Ala597Val)	ZFYVE28 (A567V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283600	NM_020972.3(ZFYVE28):c.1781C>T (p.Ser594Leu)	ZFYVE28 (S524L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193424	NM_020972.3(ZFYVE28):c.1772T>C (p.Ile591Thr)	ZFYVE28 (I521T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334609	NM_020972.3(ZFYVE28):c.1762G>A (p.Gly588Arg)	ZFYVE28 (G558R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398211	NM_020972.3(ZFYVE28):c.1741C>A (p.Leu581Met)	ZFYVE28 (L511M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334613	NM_020972.3(ZFYVE28):c.1693G>T (p.Val565Leu)	ZFYVE28 (V495L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411413	NM_020972.3(ZFYVE28):c.1627G>A (p.Glu543Lys)	ZFYVE28 (E513K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410178	NM_020972.3(ZFYVE28):c.1621G>A (p.Val541Met)	ZFYVE28 (V471M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371862	NM_020972.3(ZFYVE28):c.1613C>T (p.Ser538Leu)	ZFYVE28 (S508L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298209	NM_020972.3(ZFYVE28):c.1610C>T (p.Ala537Val)	ZFYVE28 (A507V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214032	NM_020972.3(ZFYVE28):c.1607C>T (p.Ala536Val)	ZFYVE28 (A536V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594031	NM_020972.3(ZFYVE28):c.1568C>T (p.Ser523Leu)	ZFYVE28 (S453L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193423	NM_020972.3(ZFYVE28):c.1525G>A (p.Gly509Arg)	ZFYVE28 (G439R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512665	NM_020972.3(ZFYVE28):c.1510A>G (p.Ile504Val)	ZFYVE28 (I474V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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