ZNF730[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 152294	GRCh38/hg38 19p12(chr19:22987611-23189484)x1	LINC01858, LINC01859 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2649660	NM_001277403.2(ZNF730):c.906dup (p.Lys303Ter)	ZNF730 (K303*)	Duplication (nonsense)	not provided	GLikely benign
Select item 1808207	GRCh37/hg19 19p12(chr19:23217767-23956831)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980192	GRCh37/hg19 19p12(chr19:23166550-23307438)x1	ZNF730, ZNF728	Copy number loss	not provided	GLikely benign
Select item 980191	GRCh37/hg19 19p12(chr19:23030170-23316525)x1	ZNF730, ZNF728	Copy number loss	not provided	GLikely benign
Select item 816510	GRCh37/hg19 19p12-11(chr19:22630650-24487350)x3	ZNF99, ZNF492 +7 more	Copy number gain	See cases	GUncertain significance
Select item 816073	GRCh37/hg19 19p12(chr19:23262262-23379015)x1	ZNF730	Copy number loss	not provided	GLikely benign
Select item 564601	GRCh37/hg19 19p12-11(chr19:22635439-24505637)x3	ZNF254, ZNF492 +7 more	Copy number gain	not provided	GLikely benign
Select item 564594	GRCh37/hg19 19p12(chr19:22789865-23338320)x3	ZNF99, ZNF730 +2 more	Copy number gain	not provided	GLikely benign
Select item 503594	GRCh37/hg19 19p12(chr19:22867705-23645194)x4	ZNF91, ZNF99 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance