C0038002[trait identifier] AND "Laboratorio de Genetica e Diagnostico - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48648	NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	CARD11, CARD11-AS1 (G123S)	Single nucleotide variant (missense variant)	BENTA disease +5 more	GPathogenic
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	SBDS-related condition +11 more	GPathogenic/Likely pathogenic
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic

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