ZBTB2[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2600234	NM_020861.3(ZBTB2):c.1493A>G (p.His498Arg)	ZBTB2 (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353581	NM_020861.3(ZBTB2):c.1472C>T (p.Ser491Leu)	ZBTB2 (S491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521884	NM_020861.3(ZBTB2):c.1418C>T (p.Ser473Leu)	ZBTB2 (S473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237746	NM_020861.3(ZBTB2):c.1336A>C (p.Lys446Gln)	ZBTB2 (K446Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286394	NM_020861.3(ZBTB2):c.1296G>A (p.Glu432=)	ZBTB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2244313	NM_020861.3(ZBTB2):c.1267A>C (p.Lys423Gln)	ZBTB2 (K423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234220	NM_020861.3(ZBTB2):c.1053G>T (p.Gln351His)	ZBTB2 (Q351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333871	NM_020861.3(ZBTB2):c.911A>G (p.Lys304Arg)	ZBTB2 (K304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333870	NM_020861.3(ZBTB2):c.896C>T (p.Ala299Val)	ZBTB2 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538649	NM_020861.3(ZBTB2):c.869G>T (p.Arg290Leu)	ZBTB2 (R290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273837	NM_020861.3(ZBTB2):c.869G>A (p.Arg290His)	ZBTB2 (R290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403018	NM_020861.3(ZBTB2):c.865A>G (p.Ser289Gly)	ZBTB2 (S289G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191935	NM_020861.3(ZBTB2):c.839C>G (p.Pro280Arg)	ZBTB2 (P280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362402	NM_020861.3(ZBTB2):c.836T>C (p.Val279Ala)	ZBTB2 (V279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191934	NM_020861.3(ZBTB2):c.785G>A (p.Arg262His)	ZBTB2 (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191933	NM_020861.3(ZBTB2):c.649G>T (p.Gly217Trp)	ZBTB2 (G217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591606	NM_020861.3(ZBTB2):c.538C>G (p.Leu180Val)	ZBTB2 (L180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335797	NM_020861.3(ZBTB2):c.520G>A (p.Ala174Thr)	ZBTB2 (A174T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333869	NM_020861.3(ZBTB2):c.518A>G (p.Glu173Gly)	ZBTB2 (E173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333866	NM_020861.3(ZBTB2):c.491C>T (p.Ser164Phe)	ZBTB2 (S164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495154	NM_020861.3(ZBTB2):c.352G>A (p.Ala118Thr)	ZBTB2 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283470	NM_020861.3(ZBTB2):c.328G>A (p.Glu110Lys)	ZBTB2 (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369596	NM_020861.3(ZBTB2):c.197C>A (p.Thr66Asn)	ZBTB2 (T66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333867	NM_020861.3(ZBTB2):c.185G>A (p.Arg62His)	ZBTB2 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59801	GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3	ARMT1, CCDC170 +10 more	Copy number gain	See cases	GBenign
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 42