ZFYVE16[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 714256	NM_001284236.3(ZFYVE16):c.127G>A (p.Val43Ile)	ZFYVE16 (V43I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3193365	NM_001284236.3(ZFYVE16):c.155G>A (p.Arg52Gln)	ZFYVE16 (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341618	NM_001284236.3(ZFYVE16):c.187G>A (p.Val63Ile)	ZFYVE16 (V63I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346457	NM_001284236.3(ZFYVE16):c.197G>T (p.Cys66Phe)	ZFYVE16 (C66F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544737	NM_001284236.3(ZFYVE16):c.218A>G (p.Tyr73Cys)	ZFYVE16 (Y73C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593699	NM_001284236.3(ZFYVE16):c.250A>G (p.Thr84Ala)	ZFYVE16 (T84A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193376	NM_001284236.3(ZFYVE16):c.362G>A (p.Arg121Gln)	ZFYVE16 (R121Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339776	NM_001284236.3(ZFYVE16):c.455A>G (p.Asp152Gly)	ZFYVE16 (D152G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241593	NM_001284236.3(ZFYVE16):c.502T>C (p.Ser168Pro)	ZFYVE16 (S168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193383	NM_001284236.3(ZFYVE16):c.656A>G (p.Tyr219Cys)	ZFYVE16 (Y219C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 768011	NM_001284236.3(ZFYVE16):c.749G>A (p.Arg250Gln)	ZFYVE16 (R250Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2302063	NM_001284236.3(ZFYVE16):c.764T>C (p.Met255Thr)	ZFYVE16 (M255T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193384	NM_001284236.3(ZFYVE16):c.806G>A (p.Cys269Tyr)	ZFYVE16 (C269Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655570	NM_001284236.3(ZFYVE16):c.858C>T (p.Val286=)	ZFYVE16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3193385	NM_001284236.3(ZFYVE16):c.868G>A (p.Ala290Thr)	ZFYVE16 (A290T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193386	NM_001284236.3(ZFYVE16):c.889G>A (p.Gly297Ser)	ZFYVE16 (G297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378867	NM_001284236.3(ZFYVE16):c.920C>T (p.Pro307Leu)	ZFYVE16 (P307L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216212	NM_001284236.3(ZFYVE16):c.922A>G (p.Lys308Glu)	ZFYVE16 (K308E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356530	NM_001284236.3(ZFYVE16):c.972C>A (p.Phe324Leu)	ZFYVE16 (F324L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193362	NM_001284236.3(ZFYVE16):c.1033G>T (p.Asp345Tyr)	ZFYVE16 (D345Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290610	NM_001284236.3(ZFYVE16):c.1058A>G (p.Asp353Gly)	ZFYVE16 (D353G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326355	NM_001284236.3(ZFYVE16):c.1060A>G (p.Asn354Asp)	ZFYVE16 (N354D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368695	NM_001284236.3(ZFYVE16):c.1079C>G (p.Ser360Cys)	ZFYVE16 (S360C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193363	NM_001284236.3(ZFYVE16):c.1180C>T (p.Arg394Trp)	ZFYVE16 (R394W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768012	NM_001284236.3(ZFYVE16):c.1181G>A (p.Arg394Gln)	ZFYVE16 (R394Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2371800	NM_001284236.3(ZFYVE16):c.1364A>G (p.Lys455Arg)	ZFYVE16 (K455R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358022	NM_001284236.3(ZFYVE16):c.1382C>G (p.Thr461Arg)	ZFYVE16 (T461R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464384	NM_001284236.3(ZFYVE16):c.1408G>T (p.Gly470Cys)	ZFYVE16 (G470C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320415	NM_001284236.3(ZFYVE16):c.1508T>C (p.Phe503Ser)	ZFYVE16 (F503S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493894	NM_001284236.3(ZFYVE16):c.1631C>T (p.Thr544Ile)	ZFYVE16 (T544I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479010	NM_001284236.3(ZFYVE16):c.1780A>G (p.Ile594Val)	ZFYVE16 (I594V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611195	NM_001284236.3(ZFYVE16):c.1790A>G (p.Glu597Gly)	ZFYVE16 (E597G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545559	NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn)	ZFYVE16 (D600N)	Single nucleotide variant (missense variant +1 more)	Dextrocardia	GUncertain significance
Select item 2488336	NM_001284236.3(ZFYVE16):c.1840A>G (p.Lys614Glu)	ZFYVE16 (K614E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550316	NM_001284236.3(ZFYVE16):c.1948A>G (p.Lys650Glu)	ZFYVE16 (K650E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481923	NM_001284236.3(ZFYVE16):c.1985C>T (p.Ser662Leu)	ZFYVE16 (S662L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222124	NM_001284236.3(ZFYVE16):c.2020A>G (p.Ile674Val)	ZFYVE16 (I674V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342382	NM_001284236.3(ZFYVE16):c.2050G>A (p.Val684Ile)	ZFYVE16 (V684I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193366	NM_001284236.3(ZFYVE16):c.2121T>A (p.Asp707Glu)	ZFYVE16 (D707E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406773	NM_001284236.3(ZFYVE16):c.2185A>G (p.Asn729Asp)	ZFYVE16 (N729D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193367	NM_001284236.3(ZFYVE16):c.2224C>G (p.Pro742Ala)	ZFYVE16 (P742A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405300	NM_001284236.3(ZFYVE16):c.2423A>G (p.Gln808Arg)	ZFYVE16 (Q808R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193368	NM_001284236.3(ZFYVE16):c.2488A>G (p.Thr830Ala)	ZFYVE16 (T830A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193369	NM_001284236.3(ZFYVE16):c.2518A>T (p.Thr840Ser)	ZFYVE16 (T840S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240411	NM_001284236.3(ZFYVE16):c.2546T>G (p.Leu849Trp)	ZFYVE16 (L849W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218173	NM_001284236.3(ZFYVE16):c.2591C>G (p.Ser864Cys)	ZFYVE16 (S864C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193370	NM_001284236.3(ZFYVE16):c.2608G>T (p.Val870Leu)	ZFYVE16 (V870L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381941	NM_001284236.3(ZFYVE16):c.2668T>C (p.Ser890Pro)	ZFYVE16 (S890P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405872	NM_001284236.3(ZFYVE16):c.2683T>C (p.Cys895Arg)	ZFYVE16 (C895R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193371	NM_001284236.3(ZFYVE16):c.2753C>T (p.Ser918Phe)	ZFYVE16 (S918F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193372	NM_001284236.3(ZFYVE16):c.2924C>G (p.Thr975Ser)	ZFYVE16 (T975S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336354	NM_001284236.3(ZFYVE16):c.2962A>G (p.Ser988Gly)	ZFYVE16 (S988G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193374	NM_001284236.3(ZFYVE16):c.2986T>A (p.Ser996Thr)	ZFYVE16 (S996T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346499	NM_001284236.3(ZFYVE16):c.3047C>G (p.Pro1016Arg)	ZFYVE16 (P1016R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600285	NM_001284236.3(ZFYVE16):c.3119A>T (p.Glu1040Val)	ZFYVE16 (E1040V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408963	NM_001284236.3(ZFYVE16):c.3124C>T (p.Pro1042Ser)	ZFYVE16 (P1042S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289817	NM_001284236.3(ZFYVE16):c.3274T>G (p.Leu1092Val)	ZFYVE16 (L1092V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469238	NM_001284236.3(ZFYVE16):c.3361A>G (p.Ile1121Val)	ZFYVE16 (I1121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193375	NM_001284236.3(ZFYVE16):c.3424A>G (p.Ser1142Gly)	ZFYVE16 (S1142G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335135	NM_001284236.3(ZFYVE16):c.3440A>G (p.Lys1147Arg)	ZFYVE16 (K1147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545111	NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)	ZFYVE16 (D1148Y)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 2205201	NM_001284236.3(ZFYVE16):c.3463A>G (p.Ile1155Val)	ZFYVE16 (I1155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263635	NM_001284236.3(ZFYVE16):c.3580A>G (p.Met1194Val)	ZFYVE16 (M1194V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544143	NM_001284236.3(ZFYVE16):c.3617C>T (p.Ala1206Val)	ZFYVE16 (A1206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193377	NM_001284236.3(ZFYVE16):c.3743A>T (p.His1248Leu)	ZFYVE16 (H1248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545560	NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala)	ZFYVE16 (G1252A)	Single nucleotide variant (non-coding transcript variant +1 more)	Dextrocardia	GUncertain significance
Select item 2464616	NM_001284236.3(ZFYVE16):c.3832A>C (p.Ile1278Leu)	ZFYVE16 (I1278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612406	NM_001284236.3(ZFYVE16):c.3933T>G (p.His1311Gln)	ZFYVE16 (H1311Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193378	NM_001284236.3(ZFYVE16):c.4015A>G (p.Ile1339Val)	ZFYVE16 (I1339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193379	NM_001284236.3(ZFYVE16):c.4120G>T (p.Asp1374Tyr)	ZFYVE16 (D1374Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322010	NM_001284236.3(ZFYVE16):c.4207G>A (p.Gly1403Arg)	ZFYVE16 (G1403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193380	NM_001284236.3(ZFYVE16):c.4270G>C (p.Glu1424Gln)	ZFYVE16 (E1424Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193381	NM_001284236.3(ZFYVE16):c.4277T>C (p.Ile1426Thr)	ZFYVE16 (I1426T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211155	NM_001284236.3(ZFYVE16):c.4382C>T (p.Ala1461Val)	ZFYVE16 (A1461V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714257	NM_001284236.3(ZFYVE16):c.4383G>A (p.Ala1461=)	ZFYVE16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 814702	GRCh37/hg19 5q14.1(chr5:79705427-80237350)x3	DHFR, FAM151B +4 more	Copy number gain	not provided	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 87