ClinVar for Gene (Select 126862837) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	LOC130062905, LOC130062906 +301 more	Copy number gain	See cases	GPathogenic
Select item 148955	GRCh38/hg38 19p13.3(chr19:1144297-1211700)x3	LOC108254692, LOC112543439 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
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 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic