"GenomeConnect, ClinGen"[submitter] AND "CAMSAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972932	NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter)	CAMSAP1 (Q1044*)	Single nucleotide variant (nonsense)	CAMSAP1-related neuronal migration disorder	GLikely pathogenic
Select item 972931	NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs)	CAMSAP1 (T570fs)	Duplication (frameshift variant)	CAMSAP1-related neuronal migration disorder	GLikely pathogenic