C4022738[trait identifier] AND "Medical Genetics Laboratory, CHRU Nanc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	BRI3BP, CCDC92 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 997057	GRCh37/hg19 22q11.21(chr22:18909044-21464119)	AIFM3, ARVCF +44 more	Copy number gain	Cryptorchidism +1 more	GPathogenic
Select item 1047884	GRCh37/hg19 Xp11.4(chrX:41553564-41696352)	CASK, GPR34 +1 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic

ClinVar