"Invitae"[submitter] AND "ESAM"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 781240	NM_138961.3(ESAM):c.731-9C>A	ESAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance

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