C0026106[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978555	NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)	NIPBL (P351L)	Single nucleotide variant (missense variant)	Intellectual disability, mild +4 more	GLikely pathogenic
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 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
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 40554	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11 (R498L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 more	GPathogenic
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	AIFM3, SNAP29 +7 more	Copy number gain	Intellectual disability, mild +8 more	GUncertain significance
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	DGCR8, ESS2 +45 more	Copy number loss	Ear malformation +13 more	GPathogenic

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