ClinVar for MedGen (Select 334413) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627242	NM_001982.4(ERBB3):c.3202-2A>G	ERBB3	Single nucleotide variant (splice acceptor variant)	Lethal congenital contracture syndrome 2	GLikely pathogenic
Select item 2585366	NM_001982.4(ERBB3):c.650A>C (p.His217Pro)	ERBB3 (H217P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2	GUncertain significance
Select item 2573482	NM_001982.4(ERBB3):c.2938-3_2938-2del	ERBB3	Microsatellite (splice acceptor variant)	Lethal congenital contracture syndrome 2	GLikely pathogenic
Select item 1992381	NM_001982.4(ERBB3):c.2615A>T (p.Lys872Met)	ERBB3 (K872M)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2	GUncertain significance
Select item 1255391	NM_001982.4(ERBB3):c.2616+16G>C	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial +2 more	GBenign/Likely benign
Select item 1255390	NM_001982.4(ERBB3):c.234+8A>T	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial +2 more	GBenign
Select item 1248586	NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1226099	NM_001982.4(ERBB3):c.3129+9A>C	ERBB3	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 2 +2 more	GBenign
Select item 978710	NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)	ERBB3 (I418T)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 2	GLikely pathogenic
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
Select item 634469	NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)	ERBB3 (K747N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 12572	NM_001982.4(ERBB3):c.1184-9A>G	ERBB3	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 2	GPathogenic