C4023681[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5, ANGPT2 +15 more	Copy number loss	Intellectual disability, mild +7 more	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +13 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 523296	GRCh37/hg19 Xp11.21(chrX:56488503-57276424)	SPIN2A, SPIN2B +2 more	Copy number gain	Cognitive impairment +5 more	GUncertain significance

ClinVar