ZBTB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 2647337	NM_001128833.2(ZBTB4):c.3030C>T (p.Gly1010=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237069	NM_001128833.2(ZBTB4):c.2938G>A (p.Ala980Thr)	ZBTB4 (A980T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2494907	NM_001128833.2(ZBTB4):c.2932C>T (p.Pro978Ser)	ZBTB4 (P978S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463384	NM_001128833.2(ZBTB4):c.2911G>A (p.Ala971Thr)	ZBTB4 (A971T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773312	NM_001128833.2(ZBTB4):c.2910C>T (p.Tyr970=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334747	NM_001128833.2(ZBTB4):c.2893C>T (p.Pro965Ser)	ZBTB4 (P965S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229723	NM_001128833.2(ZBTB4):c.2797G>A (p.Ala933Thr)	ZBTB4 (A933T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329093	NM_001128833.2(ZBTB4):c.2782C>T (p.Pro928Ser)	ZBTB4 (P928S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294647	NM_001128833.2(ZBTB4):c.2719A>G (p.Met907Val)	ZBTB4 (M907V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770262	NM_001128833.2(ZBTB4):c.2717G>A (p.Arg906Gln)	ZBTB4 (R906Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390644	NM_001128833.2(ZBTB4):c.2650C>T (p.Arg884Trp)	ZBTB4 (R884W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338034	NM_001128833.2(ZBTB4):c.2639T>C (p.Ile880Thr)	ZBTB4 (I880T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590542	NM_001128833.2(ZBTB4):c.2623T>C (p.Phe875Leu)	ZBTB4 (F875L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303384	NM_001128833.2(ZBTB4):c.2600A>G (p.Tyr867Cys)	ZBTB4 (Y867C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535707	NM_001128833.2(ZBTB4):c.2590G>A (p.Gly864Arg)	ZBTB4 (G864R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400310	NM_001128833.2(ZBTB4):c.2527G>A (p.Glu843Lys)	ZBTB4 (E843K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457222	NM_001128833.2(ZBTB4):c.2438A>G (p.Asp813Gly)	ZBTB4 (D813G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219838	NM_001128833.2(ZBTB4):c.2272G>A (p.Gly758Arg)	ZBTB4 (G758R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223001	NM_001128833.2(ZBTB4):c.2245G>A (p.Gly749Ser)	ZBTB4 (G749S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 788746	NM_001128833.2(ZBTB4):c.2184C>T (p.Cys728=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216639	NM_001128833.2(ZBTB4):c.2180G>A (p.Arg727Gln)	ZBTB4 (R727Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366395	NM_001128833.2(ZBTB4):c.2170C>T (p.Arg724Trp)	ZBTB4 (R724W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359606	NM_001128833.2(ZBTB4):c.2155C>T (p.Arg719Cys)	ZBTB4 (R719C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228531	NM_001128833.2(ZBTB4):c.2150C>A (p.Ala717Glu)	ZBTB4 (A717E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335257	NM_001128833.2(ZBTB4):c.2140G>A (p.Glu714Lys)	ZBTB4 (E714K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724614	NM_001128833.2(ZBTB4):c.2135C>T (p.Ala712Val)	ZBTB4 (A712V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513856	NM_001128833.2(ZBTB4):c.2111G>A (p.Arg704Gln)	ZBTB4 (R704Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367207	NM_001128833.2(ZBTB4):c.1687C>T (p.Arg563Trp)	ZBTB4 (R563W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785551	NM_001128833.2(ZBTB4):c.1616C>T (p.Ala539Val)	ZBTB4 (A539V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384678	NM_001128833.2(ZBTB4):c.1487C>T (p.Thr496Met)	ZBTB4 (T496M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493477	NM_001128833.2(ZBTB4):c.1475G>C (p.Gly492Ala)	ZBTB4 (G492A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304272	NM_001128833.2(ZBTB4):c.1456G>A (p.Gly486Ser)	ZBTB4 (G486S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400524	NM_001128833.2(ZBTB4):c.1367C>T (p.Pro456Leu)	ZBTB4 (P456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514960	NM_001128833.2(ZBTB4):c.1364C>T (p.Pro455Leu)	ZBTB4 (P455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468563	NM_001128833.2(ZBTB4):c.1337C>T (p.Pro446Leu)	ZBTB4 (P446L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348736	NM_001128833.2(ZBTB4):c.1307A>C (p.Glu436Ala)	ZBTB4 (E436A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785552	NM_001128833.2(ZBTB4):c.1221C>T (p.Pro407=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2607678	NM_001128833.2(ZBTB4):c.1175C>G (p.Pro392Arg)	ZBTB4 (P392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768829	NM_001128833.2(ZBTB4):c.1137C>T (p.Asn379=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474209	NM_001128833.2(ZBTB4):c.1001G>A (p.Arg334Gln)	ZBTB4 (R334Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469106	NM_001128833.2(ZBTB4):c.935C>A (p.Ala312Glu)	ZBTB4 (A312E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783767	NM_001128833.2(ZBTB4):c.933C>T (p.Cys311=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401078	NM_001128833.2(ZBTB4):c.895G>A (p.Val299Met)	ZBTB4 (V299M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595969	NM_001128833.2(ZBTB4):c.847G>A (p.Ala283Thr)	ZBTB4 (A283T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337843	NM_001128833.2(ZBTB4):c.796A>G (p.Thr266Ala)	ZBTB4 (T266A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2222217	NM_001128833.2(ZBTB4):c.787C>T (p.Arg263Trp)	ZBTB4 (R263W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229000	NM_001128833.2(ZBTB4):c.785C>T (p.Thr262Met)	ZBTB4 (T262M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474692	NM_001128833.2(ZBTB4):c.779C>G (p.Ala260Gly)	ZBTB4 (A260G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492005	NM_001128833.2(ZBTB4):c.772C>G (p.Arg258Gly)	ZBTB4 (R258G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477807	NM_001128833.2(ZBTB4):c.740A>C (p.Lys247Thr)	ZBTB4 (K247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392567	NM_001128833.2(ZBTB4):c.692G>A (p.Arg231Gln)	ZBTB4 (R231Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401705	NM_001128833.2(ZBTB4):c.616G>A (p.Gly206Arg)	ZBTB4 (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316549	NM_001128833.2(ZBTB4):c.550G>A (p.Ala184Thr)	ZBTB4 (A184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604636	NM_001128833.2(ZBTB4):c.373G>A (p.Val125Ile)	ZBTB4 (V125I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533002	NM_001128833.2(ZBTB4):c.368C>T (p.Pro123Leu)	ZBTB4 (P123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784698	NM_001128833.2(ZBTB4):c.159C>T (p.Pro53=)	ZBTB4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2409679	NM_001128833.2(ZBTB4):c.133C>T (p.Arg45Cys)	ZBTB4 (R45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 2352220	NM_001102614.2(SLC35G6):c.50C>T (p.Ser17Leu)	SLC35G6, ZBTB4 (S17L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607856	NM_001102614.2(SLC35G6):c.61G>A (p.Ala21Thr)	SLC35G6, ZBTB4 (A21T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2389376	NM_001102614.2(SLC35G6):c.124G>C (p.Val42Leu)	SLC35G6, ZBTB4 (V42L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546803	NM_001102614.2(SLC35G6):c.276C>A (p.Asp92Glu)	SLC35G6, ZBTB4 (D92E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546812	NM_001102614.2(SLC35G6):c.301C>G (p.Arg101Gly)	SLC35G6, ZBTB4 (R101G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274418	NM_001102614.2(SLC35G6):c.332A>C (p.Asn111Thr)	SLC35G6, ZBTB4 (N111T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398065	NM_001102614.2(SLC35G6):c.352G>A (p.Ala118Thr)	SLC35G6, ZBTB4 (A118T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507970	NM_001102614.2(SLC35G6):c.401G>C (p.Arg134Pro)	SLC35G6, ZBTB4 (R134P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256673	NM_001102614.2(SLC35G6):c.419T>G (p.Val140Gly)	SLC35G6, ZBTB4 (V140G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376575	NM_001102614.2(SLC35G6):c.475T>G (p.Trp159Gly)	SLC35G6, ZBTB4 (W159G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551449	NM_001102614.2(SLC35G6):c.496A>T (p.Ile166Phe)	SLC35G6, ZBTB4 (I166F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213955	NM_001102614.2(SLC35G6):c.517G>A (p.Val173Met)	SLC35G6, ZBTB4 (V173M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454724	NM_001102614.2(SLC35G6):c.566C>A (p.Thr189Asn)	SLC35G6, ZBTB4 (T189N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592008	NM_001102614.2(SLC35G6):c.592G>T (p.Val198Leu)	SLC35G6, ZBTB4 (V198L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2511376	NM_001102614.2(SLC35G6):c.605C>T (p.Ala202Val)	SLC35G6, ZBTB4 (A202V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267495	NM_001102614.2(SLC35G6):c.643T>C (p.Phe215Leu)	SLC35G6, ZBTB4 (F215L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546823	NM_001102614.2(SLC35G6):c.727C>T (p.Pro243Ser)	SLC35G6, ZBTB4 (P243S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265511	NM_001102614.2(SLC35G6):c.734T>C (p.Val245Ala)	SLC35G6, ZBTB4 (V245A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533412	NM_001102614.2(SLC35G6):c.878C>T (p.Ala293Val)	SLC35G6, ZBTB4 (A293V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299800	NM_001102614.2(SLC35G6):c.950T>C (p.Leu317Pro)	SLC35G6, ZBTB4 (L317P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529320	NM_001102614.2(SLC35G6):c.974C>G (p.Ala325Gly)	SLC35G6, ZBTB4 (A325G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549540	NM_001102614.2(SLC35G6):c.1010A>G (p.Glu337Gly)	SLC35G6, ZBTB4 (E337G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic

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