"Suma Genomics"[submitter] AND "IGHMBP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341529	NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)	IGHMBP2 (L488P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 9114	NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	IGHMBP2	Single nucleotide variant (missense variant)	Peripheral neuropathy +3 more	GPathogenic/Likely pathogenic