ClinVar for Gene (Select 57732) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3334617	NM_020972.3(ZFYVE28):c.1484C>A (p.Ala495Glu)	ZFYVE28 (A465E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334616	NM_020972.3(ZFYVE28):c.950A>G (p.Glu317Gly)	ZFYVE28 (E247G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334615	NM_020972.3(ZFYVE28):c.806A>T (p.Asp269Val)	ZFYVE28 (D239V +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 3334611	NM_020972.3(ZFYVE28):c.143G>A (p.Arg48Gln)	ZFYVE28 (R48Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334610	NM_020972.3(ZFYVE28):c.1144G>A (p.Glu382Lys)	ZFYVE28 (E312K +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 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 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3193436	NM_020972.3(ZFYVE28):c.889C>G (p.Arg297Gly)	ZFYVE28 (R297G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193435	NM_020972.3(ZFYVE28):c.44C>T (p.Ser15Leu)	ZFYVE28 (S15L)	Single nucleotide variant (missense variant +2 more)	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 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 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 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 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 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 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 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 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 3193422	NM_020972.3(ZFYVE28):c.1424G>C (p.Gly475Ala)	ZFYVE28 (G475A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193421	NM_020972.3(ZFYVE28):c.1336G>T (p.Gly446Trp)	ZFYVE28 (G376W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193420	NM_020972.3(ZFYVE28):c.1296C>A (p.Asp432Glu)	ZFYVE28 (D402E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193419	NM_020972.3(ZFYVE28):c.127C>T (p.Arg43Trp)	ZFYVE28 (R43W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193418	NM_020972.3(ZFYVE28):c.1163C>T (p.Pro388Leu)	ZFYVE28 (P388L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
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 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 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 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 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 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
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 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2624241	NM_020972.3(ZFYVE28):c.1216G>A (p.Val406Met)	ZFYVE28 (V336M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622827	NM_020972.3(ZFYVE28):c.951G>C (p.Glu317Asp)	ZFYVE28 (E247D +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 2611474	NM_020972.3(ZFYVE28):c.38A>G (p.Lys13Arg)	ZFYVE28 (K13R)	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 2596795	NM_020972.3(ZFYVE28):c.772C>T (p.Arg258Trp)	ZFYVE28 (R188W +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 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 2593942	NM_020972.3(ZFYVE28):c.8A>G (p.Asn3Ser)	ZFYVE28 (N3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +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 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)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570294	NM_020972.3(ZFYVE28):c.794G>A (p.Arg265Gln)	ZFYVE28 (R235Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522806	NM_020972.3(ZFYVE28):c.1499C>T (p.Thr500Met)	ZFYVE28 (T470M +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
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 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 2482723	NM_020972.3(ZFYVE28):c.1118C>G (p.Pro373Arg)	ZFYVE28 (P303R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479645	NM_020972.3(ZFYVE28):c.401G>C (p.Ser134Thr)	ZFYVE28 (S134T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477619	NM_020972.3(ZFYVE28):c.832G>C (p.Glu278Gln)	ZFYVE28 (E248Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469707	NM_020972.3(ZFYVE28):c.1291G>C (p.Ala431Pro)	ZFYVE28 (A431P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465743	NM_020972.3(ZFYVE28):c.421G>A (p.Ala141Thr)	ZFYVE28 (A94T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461000	NM_020972.3(ZFYVE28):c.1505A>G (p.Glu502Gly)	ZFYVE28 (E502G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	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 2408324	NM_020972.3(ZFYVE28):c.1249G>A (p.Glu417Lys)	ZFYVE28 (E417K +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 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 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 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 2370617	NM_020972.3(ZFYVE28):c.1451C>T (p.Ser484Leu)	ZFYVE28 (S414L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369878	NM_020972.3(ZFYVE28):c.1355C>T (p.Ser452Leu)	ZFYVE28 (S452L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2365124	NM_020972.3(ZFYVE28):c.1430G>A (p.Ser477Asn)	ZFYVE28 (S407N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2353543	NM_020972.3(ZFYVE28):c.1331C>T (p.Ala444Val)	ZFYVE28 (A374V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347448	NM_020972.3(ZFYVE28):c.1195C>T (p.Arg399Cys)	ZFYVE28 (R369C +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 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 2332689	NM_020972.3(ZFYVE28):c.743G>A (p.Arg248His)	LOC123466218, ZFYVE28 (R218H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323480	NM_020972.3(ZFYVE28):c.980C>T (p.Pro327Leu)	ZFYVE28 (P297L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307833	NM_020972.3(ZFYVE28):c.1459C>T (p.His487Tyr)	ZFYVE28 (H417Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2264285	NM_020972.3(ZFYVE28):c.1185C>G (p.Asp395Glu)	ZFYVE28 (D395E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239500	NM_020972.3(ZFYVE28):c.850C>T (p.Arg284Trp)	ZFYVE28 (R214W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219851	NM_020972.3(ZFYVE28):c.898G>A (p.Val300Met)	ZFYVE28 (V230M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218599	NM_020972.3(ZFYVE28):c.1342A>G (p.Ser448Gly)	ZFYVE28 (S448G +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 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 1808865	GRCh37/hg19 4p16.3(chr4:2195665-2503033)x3	HAUS3, MXD4 +3 more	Copy number gain	not provided	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 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic

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