"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220727	NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	AP4B1-AS1, AP4B1 (I575V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 157720	NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)	AP4B1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign