ClinVar for MedGen (Select 340946) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572088	NM_001982.4(ERBB3):c.2942_2945del	ERBB3	Microsatellite (splice acceptor variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 2572087	NM_001982.4(ERBB3):c.1914-7C>G	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 1188815	NM_001982.4(ERBB3):c.2695G>A (p.Val899Met)	ERBB3 (V899M)	Single nucleotide variant (missense variant)	Visceral neuropathy, familial, 1, autosomal recessive	GLikely pathogenic
Select item 1188814	NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)	ERBB3 (T787P)	Single nucleotide variant (missense variant)	Visceral neuropathy, familial, 1, autosomal recessive	GLikely pathogenic
Select item 1188813	NM_001982.4(ERBB3):c.3297del (p.His1100fs)	ERBB3 (H1100fs)	Deletion (frameshift variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 800957	NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)	ERBB3 (P1142L)	Single nucleotide variant (missense variant)	Visceral neuropathy, familial, 1, autosomal recessive +1 more	GUncertain significance

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