ClinVar for MedGen (Select 1841043) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706470	NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)	CAMSAP1 (Q906fs)	Deletion (frameshift variant)	CAMSAP1-related neuronal migration disorder +1 more	GPathogenic/Likely pathogenic
Select item 1706469	NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)	CAMSAP1 (Q602* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706468	NM_015447.4(CAMSAP1):c.1831A>T (p.Lys611Ter)	CAMSAP1 (K333* +1 more)	Single nucleotide variant (nonsense)	CAMSAP1-related neuronal migration disorder	GLikely pathogenic
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

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