ZBTB37[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	LOC126805925, LOC126805926 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	ANKRD45, CENPL +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CACYBP +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321913	NC_000001.11:g.173787361_174223422del	CENPL, DARS2 +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321908	NC_000001.11:g.173848142_174816147del	DARS2, GAS5 +43 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321912	NC_000001.11:g.173850996_173950174del	DARS2, GAS5 +20 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321889	NC_000001.11:g.173859535_173926473del	GAS5, GAS5-AS1 +17 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2487694	NM_001122770.3(ZBTB37):c.194A>G (p.Glu65Gly)	ZBTB37 (E65G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623182	NM_001122770.3(ZBTB37):c.350A>G (p.Lys117Arg)	ZBTB37 (K117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300870	NM_001122770.3(ZBTB37):c.415A>T (p.Ser139Cys)	ZBTB37 (S139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358633	NM_001122770.3(ZBTB37):c.467C>G (p.Thr156Arg)	ZBTB37 (T156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318197	NM_001122770.3(ZBTB37):c.481C>G (p.Arg161Gly)	ZBTB37 (R161G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333501	NM_001122770.3(ZBTB37):c.535A>G (p.Ser179Gly)	ZBTB37 (S179G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611984	NM_001122770.3(ZBTB37):c.538G>A (p.Ala180Thr)	ZBTB37 (A180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590271	NM_001122770.3(ZBTB37):c.638G>A (p.Arg213Gln)	ZBTB37 (R213Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221115	NM_001122770.3(ZBTB37):c.656A>G (p.Gln219Arg)	ZBTB37 (Q219R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477617	NM_001122770.3(ZBTB37):c.776A>G (p.Gln259Arg)	ZBTB37 (Q259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286517	NM_001122770.3(ZBTB37):c.886G>C (p.Ala296Pro)	ZBTB37 (A296P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540019	NM_001122770.3(ZBTB37):c.887C>G (p.Ala296Gly)	ZBTB37 (A296G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406181	NM_001122770.3(ZBTB37):c.891G>C (p.Lys297Asn)	ZBTB37 (K297N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221161	NM_001122770.3(ZBTB37):c.899G>A (p.Arg300Gln)	ZBTB37 (R300Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296743	NM_001122770.3(ZBTB37):c.943G>C (p.Val315Leu)	ZBTB37 (V315L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355401	NM_001122770.3(ZBTB37):c.1003C>T (p.Pro335Ser)	ZBTB37 (P335S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321914	NC_000001.11:g.173878539_174421154del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321911	NC_000001.11:g.173879820_173925989del	LOC126805923, SERPINC1 +1 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321898	NC_000001.11:g.173879820_173915405del	LOC126805923, SERPINC1 +1 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321910	NC_000001.11:g.173881395_174342043del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321915	NC_000001.11:g.173884504_174418717del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2286045	NM_001122770.3(ZBTB37):c.1135G>A (p.Ala379Thr)	ZBTB37 (A379T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294702	NM_001122770.3(ZBTB37):c.1141T>A (p.Ser381Thr)	ZBTB37 (S381T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245250	NM_001122770.3(ZBTB37):c.1211G>T (p.Arg404Leu)	ZBTB37 (R404L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321891	NC_000001.11:g.173888460_174138926del	LOC122149309, LOC126805923 +12 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321888	NC_000001.11:g.173888461_173971254del	LOC126805923, LOC126805924 +3 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321887	NC_000001.11:g.173896668_173942868del	RC3H1, SERPINC1 +1 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1322003	NM_001122770.3(ZBTB37):c.*17408A>C	ZBTB37	Single nucleotide variant (3 prime UTR variant)	Cholesteatoma	GUncertain significance
Select item 1322004	NM_001122770.3(ZBTB37):c.*17411G>A	ZBTB37	Single nucleotide variant (3 prime UTR variant)	Cholesteatoma	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3063022	GRCh37/hg19 1q25.1(chr1:173845743-173891648)x1	SERPINC1, ZBTB37	Copy number loss	not specified	GPathogenic
Select item 3062855	GRCh37/hg19 1q25.1(chr1:173701568-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527415	GRCh37/hg19 1q25.1(chr1:173750496-174538509)	DARS2, GAS5 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	ANKRD45, C1orf105 +22 more	Deletion	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814141	GRCh37/hg19 1q25.1(chr1:173705375-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 221783	GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3	CENPL, DARS2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 73