"CIB2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197787	NM_006383.4(CIB2):c.448G>A (p.Asp150Asn)	CIB2 (D150N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 957351	NM_006383.4(CIB2):c.297C>T (p.Cys99=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 289436	NM_006383.4(CIB2):c.231G>A (p.Ala77=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	CIB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3036437	NM_006383.4(CIB2):c.199-34C>T	CIB2	Single nucleotide variant (synonymous variant +1 more)	CIB2-related disorder	GLikely benign
Select item 2635022	NM_006383.4(CIB2):c.199-125G>A	CIB2 (W30*)	Single nucleotide variant (nonsense +1 more)	CIB2-related disorder	GLikely pathogenic

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