ClinVar for Gene (Select 84878) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025515	NM_001316979.2(ZBTB45):c.645C>T (p.Asp215=)	ZBTB45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621701	NM_001316979.2(ZBTB45):c.155C>T (p.Ala52Val)	ZBTB45 (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613352	NM_001316979.2(ZBTB45):c.208C>T (p.Arg70Cys)	ZBTB45 (R70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611985	NM_001316979.2(ZBTB45):c.830G>A (p.Gly277Glu)	ZBTB45 (G277E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611472	NM_001316979.2(ZBTB45):c.1398G>C (p.Lys466Asn)	LOC130065232, ZBTB45 (K466N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594545	NM_001316979.2(ZBTB45):c.1118A>T (p.Gln373Leu)	ZBTB45 (Q373L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543776	NM_001316979.2(ZBTB45):c.763G>A (p.Glu255Lys)	ZBTB45 (E255K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526590	NM_001316979.2(ZBTB45):c.1084C>T (p.Pro362Ser)	ZBTB45 (P362S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518775	NM_001316979.2(ZBTB45):c.1034C>T (p.Pro345Leu)	ZBTB45 (P345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518434	NM_001316979.2(ZBTB45):c.1225C>T (p.Arg409Cys)	ZBTB45 (R409C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511716	NM_001316979.2(ZBTB45):c.1064C>T (p.Ala355Val)	ZBTB45 (A355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510255	NM_001316979.2(ZBTB45):c.821G>A (p.Arg274Gln)	ZBTB45 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493284	NM_001316979.2(ZBTB45):c.272C>T (p.Ser91Leu)	ZBTB45 (S91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491859	NM_001316979.2(ZBTB45):c.898G>A (p.Glu300Lys)	ZBTB45 (E300K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477916	NM_001316979.2(ZBTB45):c.625G>A (p.Glu209Lys)	ZBTB45 (E209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396003	NM_001316979.2(ZBTB45):c.5C>T (p.Ala2Val)	ZBTB45 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374479	NM_001316979.2(ZBTB45):c.1186C>T (p.Pro396Ser)	ZBTB45 (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362215	NM_001316979.2(ZBTB45):c.946G>A (p.Gly316Arg)	ZBTB45 (G316R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349464	NM_001316979.2(ZBTB45):c.440C>T (p.Ala147Val)	ZBTB45 (A147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347066	NM_001316979.2(ZBTB45):c.370C>T (p.Arg124Cys)	ZBTB45 (R124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309670	NM_001316979.2(ZBTB45):c.512G>A (p.Arg171His)	ZBTB45 (R171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302061	NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val)	ZBTB45 (L100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294141	NM_001316979.2(ZBTB45):c.496G>A (p.Gly166Ser)	ZBTB45 (G166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277837	NM_001316979.2(ZBTB45):c.478C>G (p.Arg160Gly)	ZBTB45 (R160G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277135	NM_001316979.2(ZBTB45):c.4G>A (p.Ala2Thr)	ZBTB45 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260973	NM_001316979.2(ZBTB45):c.1163C>T (p.Pro388Leu)	ZBTB45 (P388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254805	NM_001316979.2(ZBTB45):c.1309T>C (p.Trp437Arg)	ZBTB45 (W437R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245763	NM_001316979.2(ZBTB45):c.939A>G (p.Ile313Met)	ZBTB45 (I313M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233178	NM_001316979.2(ZBTB45):c.604G>T (p.Ala202Ser)	ZBTB45 (A202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226260	NM_001316979.2(ZBTB45):c.532C>T (p.Arg178Cys)	ZBTB45 (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203975	NM_001316979.2(ZBTB45):c.889G>A (p.Ala297Thr)	ZBTB45 (A297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 780583	NM_001316979.2(ZBTB45):c.1065G>A (p.Ala355=)	ZBTB45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 394551	GRCh37/hg19 19q13.43(chr19:58980667-59030618)x3	SLC27A5, ZBTB45 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47