ClinVar for Gene (Select 100131117) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191936	NM_001348800.3(ZBTB20):c.126G>T (p.Leu42Phe)	ZBTB20, ZBTB20-AS1 (L42F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3030834	NM_001348800.3(ZBTB20):c.37C>T (p.Gln13Ter)	ZBTB20, ZBTB20-AS1 (Q13*)	Single nucleotide variant (nonsense +2 more)	ZBTB20-related condition	GUncertain significance
Select item 3022522	NM_001348800.3(ZBTB20):c.93G>A (p.Pro31=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3012983	NM_001348800.3(ZBTB20):c.124T>C (p.Leu42=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987158	NM_001348800.3(ZBTB20):c.199+17G>A	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981650	NM_001348800.3(ZBTB20):c.98T>C (p.Leu33Pro)	ZBTB20, ZBTB20-AS1 (L33P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2979315	NM_001348800.3(ZBTB20):c.199+13C>T	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903366	NM_001348800.3(ZBTB20):c.85G>A (p.Ala29Thr)	ZBTB20, ZBTB20-AS1 (A29T)	Single nucleotide variant (missense variant +2 more)	ZBTB20-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2894089	NM_001348800.3(ZBTB20):c.186C>T (p.Thr62=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2889077	NM_001348800.3(ZBTB20):c.150C>T (p.His50=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2781926	NM_001348800.3(ZBTB20):c.200-4_200-3delinsTT	ZBTB20, ZBTB20-AS1	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 2775998	NM_001348800.3(ZBTB20):c.71C>T (p.Pro24Leu)	ZBTB20, ZBTB20-AS1 (P24L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2771848	NM_001348800.3(ZBTB20):c.156A>T (p.Thr52=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2762532	NM_001348800.3(ZBTB20):c.263A>G (p.Asn88Ser)	ZBTB20, ZBTB20-AS1 (N88S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2654056	NM_001348800.3(ZBTB20):c.239G>A (p.Ser80Asn)	ZBTB20, ZBTB20-AS1 (S7N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2543542	NM_001348800.3(ZBTB20):c.89A>G (p.Lys30Arg)	ZBTB20, ZBTB20-AS1 (K30R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2496063	NM_001348800.3(ZBTB20):c.187G>A (p.Gly63Arg)	ZBTB20, ZBTB20-AS1 (G63R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2470692	NM_001348800.3(ZBTB20):c.85G>T (p.Ala29Ser)	ZBTB20, ZBTB20-AS1 (A29S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2444410	NM_001348800.3(ZBTB20):c.11+1del	ZBTB20, ZBTB20-AS1	Deletion (intron variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 2187593	NM_001348800.3(ZBTB20):c.149A>T (p.His50Leu)	ZBTB20, ZBTB20-AS1 (H50L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2126910	NM_001348800.3(ZBTB20):c.200-11A>T	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2111378	NM_001348800.3(ZBTB20):c.12-1G>A	ZBTB20, ZBTB20-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2070101	NM_001348800.3(ZBTB20):c.11G>A (p.Arg4Gln)	ZBTB20, ZBTB20-AS1 (R4Q)	Single nucleotide variant (missense variant +1 more)	ZBTB20-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2005417	NM_001348800.3(ZBTB20):c.262A>G (p.Asn88Asp)	ZBTB20, ZBTB20-AS1 (N88D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1996277	NM_001348800.3(ZBTB20):c.199+16A>G	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991276	NM_001348800.3(ZBTB20):c.11+18A>T	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954743	NM_001348800.3(ZBTB20):c.138A>T (p.Pro46=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1949389	NM_001348800.3(ZBTB20):c.60G>C (p.Glu20Asp)	ZBTB20, ZBTB20-AS1 (E20D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1439250	NM_001348800.3(ZBTB20):c.178G>A (p.Ala60Thr)	ZBTB20, ZBTB20-AS1 (A60T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1337494	NM_001348800.3(ZBTB20):c.189G>C (p.Gly63=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1319292	NM_001348800.3(ZBTB20):c.181C>T (p.His61Tyr)	ZBTB20, ZBTB20-AS1 (H61Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1309493	NM_001348800.3(ZBTB20):c.155C>A (p.Thr52Lys)	ZBTB20, ZBTB20-AS1 (T52K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1269279	NM_001348800.3(ZBTB20):c.199+165G>T	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 872595	NM_001348800.3(ZBTB20):c.10C>T (p.Arg4Trp)	ZBTB20, ZBTB20-AS1 (R4W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 798594	NM_001348800.3(ZBTB20):c.172T>C (p.Ser58Pro)	ZBTB20, ZBTB20-AS1 (S58P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 740977	NM_001348800.3(ZBTB20):c.231C>T (p.Arg77=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 735089	NM_001348800.3(ZBTB20):c.15G>A (p.Lys5=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 731901	NM_001348800.3(ZBTB20):c.154A>G (p.Thr52Ala)	ZBTB20, ZBTB20-AS1 (T52A)	Single nucleotide variant (missense variant +2 more)	ZBTB20-related condition +1 more	GBenign
Select item 722701	NM_001348800.3(ZBTB20):c.188G>A (p.Gly63Glu)	ZBTB20, ZBTB20-AS1 (G63E)	Single nucleotide variant (missense variant +2 more)	ZBTB20-related condition +1 more	GConflicting classifications of pathogenicity
Select item 444614	NM_001348800.3(ZBTB20):c.11+2T>C	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 423228	NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)	ZBTB20, ZBTB20-AS1 (S51*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	USF3, ZBTB20 +190 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 144858	GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1	GAP43, LOC108004532 +39 more	Copy number loss	See cases	GUncertain significance
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58