C4748127[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691661	NM_024496.4(IRF2BPL):c.2137del (p.Leu713fs)	IRF2BPL (L713fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GLikely pathogenic
Select item 986391	NM_024496.4(IRF2BPL):c.240_243del (p.Val81fs)	IRF2BPL (V81fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic