C0266463[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	not provided +7 more	GPathogenic
Select item 523262	GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	OR1E2, CLUH +16 more	Copy number loss	Lissencephaly	GPathogenic
Select item 523261	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	RAP1GAP2, CLUH +2 more	Copy number loss	Strabismus +6 more	GPathogenic
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	SERPINF2, SGSM2 +25 more	Copy number loss	Lissencephaly +2 more	GPathogenic

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