"GeneDx"[submitter] AND "LOC130062895"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 60232	GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3	LOC108254692, LOC110006317 +17 more	Copy number gain	See cases	GUncertain significance
Select item 60067	GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1	CBARP, LOC108254692 +21 more	Copy number loss	See cases	GPathogenic
Select item 328204	NM_000455.5(STK11):c.-1024C>T	LOC130062895, STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign

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