"ISCA site 1"[submitter] AND "ABCA13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 more	Copy number loss	See cases	GPathogenic
Select item 148335	GRCh38/hg38 7p12.3(chr7:48198636-48524392)x1	ABCA13, LOC126860027 +2 more	Copy number loss	See cases	GUncertain significance
Select item 147298	GRCh38/hg38 7p12.3(chr7:48274160-48442873)x1	ABCA13, LOC126860028 +1 more	Copy number loss	See cases	GUncertain significance
Select item 443039	GRCh37/hg19 7p12.3(chr7:48302723-48547569)x1	ABCA13	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic

ClinVar