"GeneDx"[submitter] AND "LZTS1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 1244413	NM_021020.5(LZTS1):c.1423C>G (p.Leu475Val)	LZTS1 (L475V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1252886	NM_021020.5(LZTS1):c.1150-219T>G	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245660	NM_021020.5(LZTS1):c.1150-257A>T	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287510	NM_021020.5(LZTS1):c.1149+74C>T	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257625	NM_021020.5(LZTS1):c.801G>A (p.Glu267=)	LZTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1182736	NM_021020.5(LZTS1):c.438C>T (p.Ser146=)	LZTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252207	NM_021020.5(LZTS1):c.346-190T>C	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244996	NM_021020.5(LZTS1):c.346-207G>A	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180329	NM_021020.5(LZTS1):c.346-230T>C	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282765	NM_021020.5(LZTS1):c.-132C>G	LZTS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1246223	NM_021020.5(LZTS1):c.-134-203G>A	LZTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic