APELA[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	GUncertain significance
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
Select item 718276	NM_001297550.2(APELA):c.24T>C (p.Phe8=)	APELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769296	NM_001297550.2(APELA):c.159T>C (p.Phe53=)	APELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign