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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1169574	NM_001014987.2(LAT):c.128+9G>T	LAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226860	NM_001014987.2(LAT):c.163+61T>C	LAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170584	NM_001014987.2(LAT):c.360G>A (p.Ala120=)	LAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1166615	NM_001014987.2(LAT):c.399-9T>A	LAT	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LAT deficiency +1 more	GBenign
Select item 1226126	NM_001014987.2(LAT):c.494-40C>T	LAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239582	NM_001014987.2(LAT):c.*8-50A>C	LAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253631	GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1	ATXN2L, NFATC2IP +15 more	Copy number loss	See cases	GPathogenic
Select item 253467	GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1	ATP2A1, CD19 +7 more	Copy number loss	See cases	GPathogenic