ZBTB48[gene] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 2306721	NM_005341.4(ZBTB48):c.159C>A (p.Ser53Arg)	ZBTB48 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591800	NM_005341.4(ZBTB48):c.178G>C (p.Gly60Arg)	ZBTB48 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273495	NM_005341.4(ZBTB48):c.373G>C (p.Gly125Arg)	ZBTB48 (G125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312448	NM_005341.4(ZBTB48):c.391G>A (p.Gly131Arg)	ZBTB48 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638125	NM_005341.4(ZBTB48):c.396C>T (p.Pro132=)	ZBTB48	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333970	NM_005341.4(ZBTB48):c.419G>T (p.Ser140Ile)	ZBTB48 (S140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473675	NM_005341.4(ZBTB48):c.434C>T (p.Pro145Leu)	ZBTB48 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333975	NM_005341.4(ZBTB48):c.629G>A (p.Cys210Tyr)	ZBTB48 (C210Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638126	NM_005341.4(ZBTB48):c.679G>A (p.Gly227Ser)	ZBTB48 (G227S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621472	NM_005341.4(ZBTB48):c.712G>A (p.Glu238Lys)	ZBTB48 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333973	NM_005341.4(ZBTB48):c.791C>T (p.Pro264Leu)	ZBTB48 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333971	NM_005341.4(ZBTB48):c.826C>G (p.Leu276Val)	ZBTB48 (L276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559216	NM_005341.4(ZBTB48):c.835G>A (p.Glu279Lys)	ZBTB48 (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463606	NM_005341.4(ZBTB48):c.953C>G (p.Pro318Arg)	ZBTB48 (P318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321279	NM_005341.4(ZBTB48):c.964C>T (p.Pro322Ser)	ZBTB48 (P322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616266	NM_005341.4(ZBTB48):c.983A>C (p.Tyr328Ser)	ZBTB48 (Y328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537863	NM_005341.4(ZBTB48):c.989G>C (p.Arg330Pro)	ZBTB48 (R330P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192153	NM_005341.4(ZBTB48):c.1019G>A (p.Arg340Gln)	ZBTB48 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595232	NM_005341.4(ZBTB48):c.1052C>T (p.Thr351Met)	ZBTB48 (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603566	NM_005341.4(ZBTB48):c.1058C>G (p.Ser353Cys)	ZBTB48 (S353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605576	NM_005341.4(ZBTB48):c.1127T>C (p.Met376Thr)	ZBTB48 (M376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368637	NM_005341.4(ZBTB48):c.1145C>T (p.Ser382Phe)	ZBTB48 (S382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192154	NM_005341.4(ZBTB48):c.1359G>A (p.Met453Ile)	ZBTB48 (M453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638127	NM_005341.4(ZBTB48):c.1379+5G>A	ZBTB48	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743477	NM_005341.4(ZBTB48):c.1379+7G>A	ZBTB48	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285616	NM_005341.4(ZBTB48):c.1453C>T (p.Arg485Cys)	ZBTB48 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333974	NM_005341.4(ZBTB48):c.1564A>G (p.Ser522Gly)	ZBTB48 (S522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333976	NM_005341.4(ZBTB48):c.1618G>T (p.Val540Leu)	ZBTB48 (V540L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292581	NM_005341.4(ZBTB48):c.1634A>C (p.Gln545Pro)	ZBTB48 (Q545P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358248	NM_005341.4(ZBTB48):c.1643G>A (p.Arg548Gln)	ZBTB48 (R548Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533433	NM_005341.4(ZBTB48):c.1735G>A (p.Glu579Lys)	ZBTB48 (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395059	NM_005341.4(ZBTB48):c.1801G>A (p.Asp601Asn)	ZBTB48 (D601N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192155	NM_005341.4(ZBTB48):c.1855G>A (p.Glu619Lys)	ZBTB48 (E619K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220518	NM_005341.4(ZBTB48):c.1889C>T (p.Pro630Leu)	ZBTB48 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333977	NM_005341.4(ZBTB48):c.1925T>C (p.Ile642Thr)	ZBTB48 (I642T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411752	NM_005341.4(ZBTB48):c.2002G>A (p.Gly668Ser)	ZBTB48 (G668S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531561	NM_005341.4(ZBTB48):c.2024C>G (p.Ser675Cys)	ZBTB48 (S675C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685794	GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	PLEKHG5, TNFRSF25 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1526428	GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	ACOT7, CAMTA1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
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 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACTRT2, AJAP1 +35 more	Copy number gain	See cases	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 93