C0557874[trait identifier] AND "Medical Genetics Laboratory, CHRU Nanc - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	ADSS2, AHCTF1 +31 more	Copy number loss	Global developmental delay +5 more	GPathogenic
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	CCDC185, CNIH4 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 1047874	GRCh37/hg19 2q23.1(chr2:149254120-149273345)	MBD5	Copy number loss	Global developmental delay +1 more	GLikely pathogenic
Select item 997062	GRCh37/hg19 2p16.3(chr2:51251498-51491417)	NRXN1	Copy number loss	Atypical behavior +1 more	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	MIR101-2, RCL1 +25 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	LINC01166, CLRN3 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	AKAP3, CCND2 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047900	GRCh37/hg19 12q24.21(chr12:116484240-116564043)	MED13L	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 997079	GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)	CHRNA7, FAN1 +5 more	Copy number loss	Global developmental delay	GPathogenic
Select item 997065	GRCh37/hg19 15q11.2(chr15:22765628-23191062)	CYFIP1, NIPA1 +2 more	Copy number loss	Epileptic encephalopathy +1 more	GPathogenic
Select item 997088	GRCh37/hg19 16p13.3(chr16:6042083-6237086)	RBFOX1	Copy number loss	Hearing impairment +1 more	GLikely pathogenic
Select item 997048	GRCh37/hg19 16p12.2(chr16:21951379-22407931)	CDR2, EEF2K +6 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 997078	GRCh37/hg19 18p11.31(chr18:3635929-3890654)	DLGAP1	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	PIAS4, SHD +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	ANGPT4, C20orf96 +19 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047893	GRCh37/hg19 22q13.33(chr22:51123491-51219009)	ACR, RABL2B +1 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 997053	GRCh37/hg19 22q11.21(chr22:18894835-21464119)	RIMBP3, RTL10 +45 more	Copy number gain	Atypical behavior +2 more	GPathogenic
Select item 1047878	GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936)	CASK, GPR34 +4 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 997060	GRCh37/hg19 Xq26.2(chrX:132717085-132924462)	GPC3	Copy number loss	Global developmental delay	GPathogenic

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Items: 23