ClinVar for Gene (Select 57507) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258889	NM_020747.3(ZNF608):c.3955C>A (p.Pro1319Thr)	ZNF608 (P1319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258888	NM_020747.3(ZNF608):c.938C>T (p.Pro313Leu)	ZNF608 (P25L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258887	NM_020747.3(ZNF608):c.500G>A (p.Ser167Asn)	ZNF608 (S167N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258886	NM_020747.3(ZNF608):c.3110A>G (p.Asp1037Gly)	ZNF608 (D1037G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258885	NM_020747.3(ZNF608):c.1147C>A (p.His383Asn)	ZNF608 (H383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258884	NM_020747.3(ZNF608):c.3457A>G (p.Ile1153Val)	ZNF608 (I1153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258883	NM_020747.3(ZNF608):c.1394C>G (p.Ala465Gly)	ZNF608 (A177G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258881	NM_020747.3(ZNF608):c.178A>G (p.Ser60Gly)	ZNF608 (S60G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197151	NM_020747.3(ZNF608):c.899C>T (p.Thr300Ile)	LOC129994494, ZNF608 (T300I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197150	NM_020747.3(ZNF608):c.840G>T (p.Met280Ile)	ZNF608 (M280I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197149	NM_020747.3(ZNF608):c.730G>A (p.Gly244Arg)	ZNF608 (G244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197148	NM_020747.3(ZNF608):c.724A>G (p.Ser242Gly)	ZNF608 (S242G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197146	NM_020747.3(ZNF608):c.619G>A (p.Ala207Thr)	ZNF608 (A207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197145	NM_020747.3(ZNF608):c.472A>G (p.Ser158Gly)	ZNF608 (S158G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197144	NM_020747.3(ZNF608):c.4373G>A (p.Arg1458Gln)	ZNF608 (R1170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197142	NM_020747.3(ZNF608):c.3916A>G (p.Met1306Val)	ZNF608 (M1306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197141	NM_020747.3(ZNF608):c.3650C>T (p.Ser1217Phe)	ZNF608 (S929F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197140	NM_020747.3(ZNF608):c.362C>G (p.Ser121Cys)	ZNF608 (S121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197139	NM_020747.3(ZNF608):c.3356T>G (p.Met1119Arg)	ZNF608 (M1119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197138	NM_020747.3(ZNF608):c.2984C>T (p.Pro995Leu)	ZNF608 (P995L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197136	NM_020747.3(ZNF608):c.2872A>G (p.Met958Val)	ZNF608 (M958V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197135	NM_020747.3(ZNF608):c.2407C>A (p.Pro803Thr)	ZNF608 (P515T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197134	NM_020747.3(ZNF608):c.2060C>T (p.Ser687Leu)	ZNF608 (S399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197133	NM_020747.3(ZNF608):c.1233C>G (p.His411Gln)	ZNF608 (H123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197132	NM_020747.3(ZNF608):c.1112C>G (p.Pro371Arg)	ZNF608 (P83R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655665	NM_020747.3(ZNF608):c.2298C>T (p.Pro766=)	ZNF608	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602617	NM_020747.3(ZNF608):c.85G>A (p.Gly29Arg)	ZNF608 (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596009	NM_020747.3(ZNF608):c.1966G>A (p.Ala656Thr)	ZNF608 (A368T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570078	NM_020747.3(ZNF608):c.182A>T (p.Asn61Ile)	ZNF608 (N61I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557167	NM_020747.3(ZNF608):c.2711T>A (p.Leu904Gln)	ZNF608 (L616Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556836	NM_020747.3(ZNF608):c.1147C>T (p.His383Tyr)	ZNF608 (H95Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555891	NM_020747.3(ZNF608):c.1571G>A (p.Arg524His)	ZNF608 (R524H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548306	NM_020747.3(ZNF608):c.3548C>T (p.Ser1183Leu)	ZNF608 (S895L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545866	NM_020747.3(ZNF608):c.1885G>T (p.Gly629Cys)	ZNF608 (G629C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544441	NM_020747.3(ZNF608):c.4003C>A (p.Pro1335Thr)	ZNF608 (P1335T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540937	NM_020747.3(ZNF608):c.4322G>C (p.Arg1441Pro)	ZNF608 (R1441P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540305	NM_020747.3(ZNF608):c.2437A>C (p.Lys813Gln)	ZNF608 (K525Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523093	NM_020747.3(ZNF608):c.4466C>T (p.Ala1489Val)	ZNF608 (A1489V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519021	NM_020747.3(ZNF608):c.2068G>A (p.Asp690Asn)	ZNF608 (D402N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508500	NM_020747.3(ZNF608):c.2003A>G (p.Asn668Ser)	ZNF608 (N668S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493350	NM_020747.3(ZNF608):c.3263A>G (p.Tyr1088Cys)	ZNF608 (Y1088C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488437	NM_020747.3(ZNF608):c.1783A>T (p.Ile595Phe)	ZNF608 (I307F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485714	NM_020747.3(ZNF608):c.2957C>T (p.Ser986Leu)	ZNF608 (S698L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484457	NM_020747.3(ZNF608):c.2359C>T (p.Pro787Ser)	ZNF608 (P499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472675	NM_020747.3(ZNF608):c.476G>A (p.Ser159Asn)	ZNF608 (S159N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460234	NM_020747.3(ZNF608):c.4114A>G (p.Ser1372Gly)	ZNF608 (S1372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407788	NM_020747.3(ZNF608):c.4220C>T (p.Thr1407Met)	ZNF608 (T1119M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398171	NM_020747.3(ZNF608):c.2843A>G (p.Asp948Gly)	ZNF608 (D948G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392755	NM_020747.3(ZNF608):c.1016C>T (p.Pro339Leu)	ZNF608 (P339L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392205	NM_020747.3(ZNF608):c.4102G>A (p.Val1368Ile)	ZNF608 (V1368I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384331	NM_020747.3(ZNF608):c.2459A>G (p.Lys820Arg)	ZNF608 (K532R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382344	NM_020747.3(ZNF608):c.1334C>T (p.Pro445Leu)	ZNF608 (P157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371093	NM_020747.3(ZNF608):c.3959T>C (p.Val1320Ala)	ZNF608 (V1032A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346355	NM_020747.3(ZNF608):c.3977G>A (p.Arg1326Gln)	ZNF608 (R1038Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344351	NM_020747.3(ZNF608):c.4501T>C (p.Ser1501Pro)	ZNF608 (S1501P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338914	NM_020747.3(ZNF608):c.2606C>T (p.Ser869Leu)	ZNF608 (S581L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333885	NM_020747.3(ZNF608):c.3899A>T (p.His1300Leu)	ZNF608 (H1300L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320417	NM_020747.3(ZNF608):c.646G>A (p.Asp216Asn)	ZNF608 (D216N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316273	NM_020747.3(ZNF608):c.4385C>G (p.Thr1462Arg)	ZNF608 (T1174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302911	NM_020747.3(ZNF608):c.1844G>A (p.Ser615Asn)	ZNF608 (S327N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300368	NM_020747.3(ZNF608):c.2852C>A (p.Ser951Tyr)	ZNF608 (S663Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298836	NM_020747.3(ZNF608):c.2624G>A (p.Arg875His)	ZNF608 (R587H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289434	NM_020747.3(ZNF608):c.2956T>C (p.Ser986Pro)	ZNF608 (S698P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269217	NM_020747.3(ZNF608):c.3397C>T (p.Leu1133Phe)	ZNF608 (L845F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263756	NM_020747.3(ZNF608):c.3733T>C (p.Tyr1245His)	ZNF608 (Y957H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238188	NM_020747.3(ZNF608):c.3559T>C (p.Ser1187Pro)	ZNF608 (S1187P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229954	NM_020747.3(ZNF608):c.1762G>C (p.Glu588Gln)	ZNF608 (E588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226560	NM_020747.3(ZNF608):c.3899A>C (p.His1300Pro)	ZNF608 (H1300P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221309	NM_020747.3(ZNF608):c.2443G>C (p.Glu815Gln)	ZNF608 (E527Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217844	NM_020747.3(ZNF608):c.3953C>T (p.Thr1318Ile)	ZNF608 (T1318I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1340073	GRCh37/hg19 5q23.2(chr5:123845674-124016425)x1	ZNF608	Copy number loss	not provided	GUncertain significance
Select item 773323	NM_020747.3(ZNF608):c.4451-7C>T	ZNF608	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563105	GRCh37/hg19 5q23.2(chr5:123980871-124434498)x3	ZNF608	Copy number gain	not provided	GLikely benign
Select item 563104	GRCh37/hg19 5q23.2(chr5:122957481-124299676)x1	ZNF608	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443463	GRCh37/hg19 5q23.2(chr5:122778278-124492204)x3	CSNK1G3, ZNF608	Copy number gain	See cases	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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59450	GRCh38/hg38 5q23.2(chr5:123993342-125133288)x3	LINC01170, LOC101927421 +25 more	Copy number gain	See cases	GUncertain significance
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 96