ZBTB40[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 2459772	NM_014870.4(ZBTB40):c.194T>C (p.Val65Ala)	ZBTB40 (V65A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557745	NM_014870.4(ZBTB40):c.233T>G (p.Met78Arg)	ZBTB40 (M78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775521	NM_014870.4(ZBTB40):c.246A>G (p.Lys82=)	ZBTB40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2471855	NM_014870.4(ZBTB40):c.452C>A (p.Ser151Tyr)	ZBTB40 (S151Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520726	NM_014870.4(ZBTB40):c.662C>T (p.Thr221Ile)	ZBTB40 (T221I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784937	NM_014870.4(ZBTB40):c.801G>A (p.Met267Ile)	ZBTB40 (M267I)	Single nucleotide variant (missense variant)	ZBTB40-related condition +1 more	GBenign
Select item 2592368	NM_014870.4(ZBTB40):c.838G>A (p.Val280Met)	ZBTB40 (V280M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2546540	NM_014870.4(ZBTB40):c.845G>A (p.Cys282Tyr)	ZBTB40 (C282Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058003	NM_014870.4(ZBTB40):c.849C>T (p.Phe283=)	ZBTB40	Single nucleotide variant (synonymous variant +1 more)	ZBTB40-related condition	GLikely benign
Select item 775522	NM_014870.4(ZBTB40):c.891T>C (p.Gly297=)	ZBTB40	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2280303	NM_014870.4(ZBTB40):c.916G>A (p.Val306Ile)	ZBTB40 (V306I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527655	NM_014870.4(ZBTB40):c.925G>C (p.Val309Leu)	ZBTB40 (V309L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486902	NM_014870.4(ZBTB40):c.925G>T (p.Val309Phe)	ZBTB40 (V309F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321468	NM_014870.4(ZBTB40):c.1010C>T (p.Thr337Ile)	ZBTB40 (T337I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208662	NM_014870.4(ZBTB40):c.1052C>A (p.Ser351Tyr)	ZBTB40 (S351Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596193	NM_014870.4(ZBTB40):c.1103T>C (p.Leu368Pro)	ZBTB40 (L368P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246782	NM_014870.4(ZBTB40):c.1144T>C (p.Phe382Leu)	ZBTB40 (F382L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376225	NM_014870.4(ZBTB40):c.1162A>C (p.Lys388Gln)	ZBTB40 (K388Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609568	NM_014870.4(ZBTB40):c.1229G>A (p.Arg410Lys)	ZBTB40 (R410K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058798	NM_014870.4(ZBTB40):c.1248G>A (p.Thr416=)	ZBTB40	Single nucleotide variant (synonymous variant)	ZBTB40-related condition	GLikely benign
Select item 2367127	NM_014870.4(ZBTB40):c.1292C>T (p.Thr431Met)	ZBTB40 (T319M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2611259	NM_014870.4(ZBTB40):c.1385G>C (p.Gly462Ala)	ZBTB40 (G462A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262592	NM_014870.4(ZBTB40):c.1385G>A (p.Gly462Glu)	ZBTB40 (G350E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473079	NM_014870.4(ZBTB40):c.1409A>G (p.His470Arg)	ZBTB40 (H358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559385	NM_014870.4(ZBTB40):c.1484C>T (p.Pro495Leu)	ZBTB40 (P383L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262388	NM_014870.4(ZBTB40):c.1648C>G (p.Leu550Val)	ZBTB40 (L550V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366976	NM_014870.4(ZBTB40):c.1660A>G (p.Ile554Val)	ZBTB40 (I442V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260804	NM_014870.4(ZBTB40):c.1784A>G (p.Tyr595Cys)	ZBTB40 (Y483C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2282433	NM_014870.4(ZBTB40):c.1921A>G (p.Ile641Val)	ZBTB40 (I641V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368255	NM_014870.4(ZBTB40):c.2072A>G (p.Asn691Ser)	ZBTB40 (N691S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272711	NM_014870.4(ZBTB40):c.2134G>A (p.Gly712Arg)	ZBTB40 (G600R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043710	NM_014870.4(ZBTB40):c.2142T>C (p.Thr714=)	ZBTB40	Single nucleotide variant (synonymous variant)	ZBTB40-related condition	GLikely benign
Select item 2603532	NM_014870.4(ZBTB40):c.2255A>G (p.Lys752Arg)	ZBTB40 (K752R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323759	NM_014870.4(ZBTB40):c.2276G>A (p.Arg759Gln)	ZBTB40 (R759Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480141	NM_014870.4(ZBTB40):c.2294A>G (p.Gln765Arg)	ZBTB40 (Q653R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232718	NM_014870.4(ZBTB40):c.2324A>G (p.Lys775Arg)	ZBTB40 (K663R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495301	NM_014870.4(ZBTB40):c.2327A>G (p.Asp776Gly)	ZBTB40 (D664G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051741	NM_014870.4(ZBTB40):c.2353C>G (p.Gln785Glu)	ZBTB40 (Q673E +1 more)	Single nucleotide variant (missense variant)	ZBTB40-related condition	GLikely benign
Select item 2206038	NM_014870.4(ZBTB40):c.2390C>T (p.Ala797Val)	ZBTB40 (A685V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2325939	NM_014870.4(ZBTB40):c.2473C>T (p.His825Tyr)	ZBTB40 (H713Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026681	NM_014870.4(ZBTB40):c.2728C>T (p.Arg910Cys)	ZBTB40 (R798C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2529657	NM_014870.4(ZBTB40):c.2926G>A (p.Glu976Lys)	ZBTB40 (E976K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208989	NM_014870.4(ZBTB40):c.2935C>T (p.Pro979Ser)	ZBTB40 (P979S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255874	NM_014870.4(ZBTB40):c.3116G>C (p.Arg1039Pro)	ZBTB40 (R1039P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044801	NM_014870.4(ZBTB40):c.3212-3C>T	ZBTB40	Single nucleotide variant (intron variant)	ZBTB40-related condition	GLikely benign
Select item 2314888	NM_014870.4(ZBTB40):c.3279T>A (p.His1093Gln)	ZBTB40 (H1093Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314889	NM_014870.4(ZBTB40):c.3281T>A (p.Val1094Asp)	ZBTB40 (V1094D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485804	NM_014870.4(ZBTB40):c.3284A>C (p.Lys1095Thr)	ZBTB40 (K1095T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058048	NM_014870.4(ZBTB40):c.3299-10T>A	ZBTB40	Single nucleotide variant (intron variant)	ZBTB40-related condition	GLikely benign
Select item 3035325	NM_014870.4(ZBTB40):c.3299-3C>T	ZBTB40	Single nucleotide variant (intron variant)	ZBTB40-related condition	GLikely benign
Select item 2531326	NM_014870.4(ZBTB40):c.3481G>T (p.Val1161Leu)	ZBTB40 (V1161L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465605	NM_014870.4(ZBTB40):c.3491C>T (p.Thr1164Met)	ZBTB40 (T1052M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475742	NM_014870.4(ZBTB40):c.3521C>T (p.Ala1174Val)	ZBTB40 (A1174V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3060178	NM_014870.4(ZBTB40):c.3546G>C (p.Pro1182=)	ZBTB40	Single nucleotide variant (synonymous variant)	ZBTB40-related condition	GBenign
Select item 2527654	NM_014870.4(ZBTB40):c.3560A>G (p.Glu1187Gly)	ZBTB40 (E1075G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536199	NM_014870.4(ZBTB40):c.3562C>G (p.Gln1188Glu)	ZBTB40 (Q1076E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462342	NM_014870.4(ZBTB40):c.3588G>C (p.Gln1196His)	ZBTB40 (Q1084H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216544	NM_014870.4(ZBTB40):c.3695C>T (p.Thr1232Met)	ZBTB40 (T1232M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	KIF17, LDLRAD2 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 70