ZBTB45[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 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 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +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 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 2611472	NM_001316979.2(ZBTB45):c.1398G>C (p.Lys466Asn)	LOC130065232, ZBTB45 (K466N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192110	NM_001316979.2(ZBTB45):c.1363G>A (p.Gly455Ser)	LOC130065232, ZBTB45 (G455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254805	NM_001316979.2(ZBTB45):c.1309T>C (p.Trp437Arg)	ZBTB45 (W437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192109	NM_001316979.2(ZBTB45):c.1264A>G (p.Met422Val)	ZBTB45 (M422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518434	NM_001316979.2(ZBTB45):c.1225C>T (p.Arg409Cys)	ZBTB45 (R409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374479	NM_001316979.2(ZBTB45):c.1186C>T (p.Pro396Ser)	ZBTB45 (P396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260973	NM_001316979.2(ZBTB45):c.1163C>T (p.Pro388Leu)	ZBTB45 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594545	NM_001316979.2(ZBTB45):c.1118A>T (p.Gln373Leu)	ZBTB45 (Q373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526590	NM_001316979.2(ZBTB45):c.1084C>T (p.Pro362Ser)	ZBTB45 (P362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192108	NM_001316979.2(ZBTB45):c.1066C>T (p.Pro356Ser)	ZBTB45 (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780583	NM_001316979.2(ZBTB45):c.1065G>A (p.Ala355=)	ZBTB45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511716	NM_001316979.2(ZBTB45):c.1064C>T (p.Ala355Val)	ZBTB45 (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518775	NM_001316979.2(ZBTB45):c.1034C>T (p.Pro345Leu)	ZBTB45 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333959	NM_001316979.2(ZBTB45):c.1030C>T (p.Pro344Ser)	ZBTB45 (P344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192107	NM_001316979.2(ZBTB45):c.1027G>A (p.Ala343Thr)	ZBTB45 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362215	NM_001316979.2(ZBTB45):c.946G>A (p.Gly316Arg)	ZBTB45 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245763	NM_001316979.2(ZBTB45):c.939A>G (p.Ile313Met)	ZBTB45 (I313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192120	NM_001316979.2(ZBTB45):c.931G>A (p.Asp311Asn)	ZBTB45 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491859	NM_001316979.2(ZBTB45):c.898G>A (p.Glu300Lys)	ZBTB45 (E300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203975	NM_001316979.2(ZBTB45):c.889G>A (p.Ala297Thr)	ZBTB45 (A297T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192119	NM_001316979.2(ZBTB45):c.877G>A (p.Asp293Asn)	ZBTB45 (D293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611985	NM_001316979.2(ZBTB45):c.830G>A (p.Gly277Glu)	ZBTB45 (G277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510255	NM_001316979.2(ZBTB45):c.821G>A (p.Arg274Gln)	ZBTB45 (R274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333960	NM_001316979.2(ZBTB45):c.769C>A (p.Pro257Thr)	ZBTB45 (P257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543776	NM_001316979.2(ZBTB45):c.763G>A (p.Glu255Lys)	ZBTB45 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192118	NM_001316979.2(ZBTB45):c.728G>A (p.Gly243Asp)	ZBTB45 (G243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025515	NM_001316979.2(ZBTB45):c.645C>T (p.Asp215=)	ZBTB45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477916	NM_001316979.2(ZBTB45):c.625G>A (p.Glu209Lys)	ZBTB45 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233178	NM_001316979.2(ZBTB45):c.604G>T (p.Ala202Ser)	ZBTB45 (A202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226260	NM_001316979.2(ZBTB45):c.532C>T (p.Arg178Cys)	ZBTB45 (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309670	NM_001316979.2(ZBTB45):c.512G>A (p.Arg171His)	ZBTB45 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294141	NM_001316979.2(ZBTB45):c.496G>A (p.Gly166Ser)	ZBTB45 (G166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277837	NM_001316979.2(ZBTB45):c.478C>G (p.Arg160Gly)	ZBTB45 (R160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192114	NM_001316979.2(ZBTB45):c.454C>T (p.Arg152Cys)	ZBTB45 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349464	NM_001316979.2(ZBTB45):c.440C>T (p.Ala147Val)	ZBTB45 (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357794	NM_001316979.2(ZBTB45):c.438T>A (p.Pro146=)	ZBTB45	Single nucleotide variant (synonymous variant)	ZBTB45-related condition	GLikely benign
Select item 3192113	NM_001316979.2(ZBTB45):c.395C>T (p.Ala132Val)	ZBTB45 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347066	NM_001316979.2(ZBTB45):c.370C>T (p.Arg124Cys)	ZBTB45 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192112	NM_001316979.2(ZBTB45):c.356C>T (p.Thr119Met)	ZBTB45 (T119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302061	NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val)	ZBTB45 (L100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493284	NM_001316979.2(ZBTB45):c.272C>T (p.Ser91Leu)	ZBTB45 (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613352	NM_001316979.2(ZBTB45):c.208C>T (p.Arg70Cys)	ZBTB45 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621701	NM_001316979.2(ZBTB45):c.155C>T (p.Ala52Val)	ZBTB45 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192117	NM_001316979.2(ZBTB45):c.50G>A (p.Arg17His)	ZBTB45 (R17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192115	NM_001316979.2(ZBTB45):c.49C>T (p.Arg17Cys)	ZBTB45 (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192111	NM_001316979.2(ZBTB45):c.15G>C (p.Glu5Asp)	ZBTB45 (E5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396003	NM_001316979.2(ZBTB45):c.5C>T (p.Ala2Val)	ZBTB45 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277135	NM_001316979.2(ZBTB45):c.4G>A (p.Ala2Thr)	ZBTB45 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60