ClinVar for Gene (Select 9372) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334634	NM_004799.4(ZFYVE9):c.3904T>C (p.Tyr1302His)	ZFYVE9 (Y1243H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334633	NM_004799.4(ZFYVE9):c.3834T>C (p.Gly1278=)	ZFYVE9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3334632	NM_004799.4(ZFYVE9):c.580C>G (p.Gln194Glu)	ZFYVE9 (Q194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334631	NM_004799.4(ZFYVE9):c.4165A>G (p.Met1389Val)	ZFYVE9 (M1330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334630	NM_004799.4(ZFYVE9):c.2629G>C (p.Asp877His)	ZFYVE9 (D877H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334629	NM_004799.4(ZFYVE9):c.1129C>A (p.His377Asn)	ZFYVE9 (H377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334628	NM_004799.4(ZFYVE9):c.233C>T (p.Ala78Val)	ZFYVE9 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334627	NM_004799.4(ZFYVE9):c.2189C>T (p.Ala730Val)	ZFYVE9 (A730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334626	NM_004799.4(ZFYVE9):c.136C>T (p.Arg46Trp)	ZFYVE9 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334625	NM_004799.4(ZFYVE9):c.1685C>A (p.Ser562Tyr)	ZFYVE9 (S562Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334624	NM_004799.4(ZFYVE9):c.464A>G (p.His155Arg)	ZFYVE9 (H155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334623	NM_004799.4(ZFYVE9):c.2276A>C (p.Asn759Thr)	ZFYVE9 (N759T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334622	NM_004799.4(ZFYVE9):c.2017C>T (p.Leu673Phe)	ZFYVE9 (L673F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334621	NM_004799.4(ZFYVE9):c.2180T>G (p.Val727Gly)	ZFYVE9 (V727G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334620	NM_004799.4(ZFYVE9):c.2774A>G (p.Gln925Arg)	ZFYVE9 (Q866R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334619	NM_004799.4(ZFYVE9):c.1069C>T (p.Arg357Trp)	ZFYVE9 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193447	NM_004799.4(ZFYVE9):c.808A>G (p.Ile270Val)	ZFYVE9 (I270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193446	NM_004799.4(ZFYVE9):c.701C>T (p.Ser234Phe)	ZFYVE9 (S234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193444	NM_004799.4(ZFYVE9):c.686T>C (p.Leu229Pro)	ZFYVE9 (L229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193443	NM_004799.4(ZFYVE9):c.4037C>A (p.Ala1346Asp)	ZFYVE9 (A1346D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193442	NM_004799.4(ZFYVE9):c.3443T>C (p.Met1148Thr)	ZFYVE9 (M1089T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193441	NM_004799.4(ZFYVE9):c.2442C>G (p.His814Gln)	ZFYVE9 (H814Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193440	NM_004799.4(ZFYVE9):c.1982G>A (p.Cys661Tyr)	ZFYVE9 (C661Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193439	NM_004799.4(ZFYVE9):c.1687C>T (p.Pro563Ser)	ZFYVE9 (P563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193438	NM_004799.4(ZFYVE9):c.137G>A (p.Arg46Gln)	ZFYVE9 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2622000	NM_004799.4(ZFYVE9):c.3434A>G (p.Asn1145Ser)	ZFYVE9 (N1086S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621100	NM_004799.4(ZFYVE9):c.2318G>A (p.Ser773Asn)	ZFYVE9 (S773N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601301	NM_004799.4(ZFYVE9):c.1397T>C (p.Ile466Thr)	ZFYVE9 (I466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592578	NM_004799.4(ZFYVE9):c.2044G>T (p.Ala682Ser)	ZFYVE9 (A682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588700	NM_004799.4(ZFYVE9):c.1070G>A (p.Arg357Gln)	ZFYVE9 (R357Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559052	NM_004799.4(ZFYVE9):c.2000A>G (p.Asp667Gly)	ZFYVE9 (D667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557663	NM_004799.4(ZFYVE9):c.2642T>A (p.Phe881Tyr)	ZFYVE9 (F822Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549558	NM_004799.4(ZFYVE9):c.1897A>G (p.Ser633Gly)	ZFYVE9 (S633G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546754	NM_004799.4(ZFYVE9):c.3622G>A (p.Ala1208Thr)	ZFYVE9 (A1208T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546195	NM_004799.4(ZFYVE9):c.749G>A (p.Gly250Glu)	ZFYVE9 (G250E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539024	NM_004799.4(ZFYVE9):c.3350A>G (p.Gln1117Arg)	ZFYVE9 (Q1058R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526278	NM_004799.4(ZFYVE9):c.1334C>T (p.Ala445Val)	ZFYVE9 (A445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520915	NM_004799.4(ZFYVE9):c.1594G>A (p.Gly532Arg)	ZFYVE9 (G532R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516172	NM_004799.4(ZFYVE9):c.3010C>T (p.Arg1004Trp)	ZFYVE9 (R1004W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509488	NM_004799.4(ZFYVE9):c.2897C>T (p.Thr966Ile)	ZFYVE9 (T907I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495155	NM_004799.4(ZFYVE9):c.355A>C (p.Asn119His)	ZFYVE9 (N119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495009	NM_004799.4(ZFYVE9):c.133C>T (p.His45Tyr)	ZFYVE9 (H45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494998	NM_004799.4(ZFYVE9):c.3658A>G (p.Ser1220Gly)	ZFYVE9 (S1161G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479567	NM_004799.4(ZFYVE9):c.666G>C (p.Glu222Asp)	ZFYVE9 (E222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471411	NM_004799.4(ZFYVE9):c.41A>G (p.Lys14Arg)	ZFYVE9 (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409241	NM_004799.4(ZFYVE9):c.3823G>A (p.Val1275Ile)	ZFYVE9 (V1216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408574	NM_004799.4(ZFYVE9):c.3710C>A (p.Ser1237Tyr)	ZFYVE9 (S1178Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401464	NM_004799.4(ZFYVE9):c.3011G>A (p.Arg1004Gln)	ZFYVE9 (R1004Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399306	NM_004799.4(ZFYVE9):c.493G>A (p.Asp165Asn)	ZFYVE9 (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372152	NM_004799.4(ZFYVE9):c.523C>G (p.Gln175Glu)	ZFYVE9 (Q175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362560	NM_004799.4(ZFYVE9):c.538G>A (p.Ala180Thr)	ZFYVE9 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361058	NM_004799.4(ZFYVE9):c.3575A>G (p.Asn1192Ser)	ZFYVE9 (N1133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357564	NM_004799.4(ZFYVE9):c.2627C>T (p.Thr876Met)	ZFYVE9 (T817M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355120	NM_004799.4(ZFYVE9):c.257A>G (p.Asp86Gly)	ZFYVE9 (D86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345676	NM_004799.4(ZFYVE9):c.794C>T (p.Thr265Met)	ZFYVE9 (T265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344157	NM_004799.4(ZFYVE9):c.1651T>G (p.Cys551Gly)	ZFYVE9 (C551G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341824	NM_004799.4(ZFYVE9):c.1165A>G (p.Met389Val)	ZFYVE9 (M389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340433	NM_004799.4(ZFYVE9):c.3801G>T (p.Gln1267His)	ZFYVE9 (Q1208H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338625	NM_004799.4(ZFYVE9):c.3935C>G (p.Thr1312Arg)	ZFYVE9 (T1253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333593	NM_004799.4(ZFYVE9):c.3888A>G (p.Ile1296Met)	ZFYVE9 (I1237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328688	NM_004799.4(ZFYVE9):c.4211C>T (p.Ala1404Val)	ZFYVE9 (A1345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328184	NM_004799.4(ZFYVE9):c.1313A>G (p.Gln438Arg)	ZFYVE9 (Q438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317944	NM_004799.4(ZFYVE9):c.1031A>T (p.Asp344Val)	ZFYVE9 (D344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316319	NM_004799.4(ZFYVE9):c.383C>T (p.Ala128Val)	ZFYVE9 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313310	NM_004799.4(ZFYVE9):c.3218G>A (p.Arg1073His)	ZFYVE9 (R1014H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313071	NM_004799.4(ZFYVE9):c.4188G>T (p.Leu1396Phe)	ZFYVE9 (L1337F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296828	NM_004799.4(ZFYVE9):c.2951G>A (p.Cys984Tyr)	ZFYVE9 (C925Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283717	NM_004799.4(ZFYVE9):c.1001G>T (p.Arg334Leu)	ZFYVE9 (R334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273037	NM_004799.4(ZFYVE9):c.743A>G (p.Asp248Gly)	ZFYVE9 (D248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270126	NM_004799.4(ZFYVE9):c.1094A>G (p.Asn365Ser)	ZFYVE9 (N365S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268454	NM_004799.4(ZFYVE9):c.2335C>T (p.Pro779Ser)	ZFYVE9 (P779S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249103	NM_004799.4(ZFYVE9):c.3548A>G (p.Tyr1183Cys)	ZFYVE9 (Y1183C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246761	NM_004799.4(ZFYVE9):c.3305C>T (p.Thr1102Met)	ZFYVE9 (T1043M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242120	NM_004799.4(ZFYVE9):c.893G>C (p.Ser298Thr)	ZFYVE9 (S298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240932	NM_004799.4(ZFYVE9):c.2719A>T (p.Ile907Phe)	ZFYVE9 (I848F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236683	NM_004799.4(ZFYVE9):c.1153G>C (p.Glu385Gln)	ZFYVE9 (E385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226357	NM_004799.4(ZFYVE9):c.3367G>A (p.Val1123Ile)	ZFYVE9 (V1123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215930	NM_004799.4(ZFYVE9):c.578A>G (p.Asp193Gly)	ZFYVE9 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210726	NM_004799.4(ZFYVE9):c.941G>T (p.Ser314Ile)	ZFYVE9 (S314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 1808007	GRCh37/hg19 1p32.3(chr1:52619564-52693336)x1	ZFYVE9	Copy number loss	not provided	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 980376	GRCh37/hg19 1p32.3(chr1:52521004-52730440)x3	BTF3L4, ZFYVE9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687928	GRCh37/hg19 1p32.3(chr1:52548049-52693660)x3	BTF3L4, ZFYVE9	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90