Related gene-specific medical variations for Gene (Select 2065) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689028	NM_001982.4(ERBB3):c.3799C>T (p.Arg1267Ter)	ERBB3 (R1267*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2441279	NM_001982.4(ERBB3):c.121G>A (p.Asp41Asn)	ERBB3 (D41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441278	NM_001982.4(ERBB3):c.3679G>A (p.Val1227Met)	ERBB3 (V1227M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441277	NM_001982.4(ERBB3):c.1540_1543delinsATCA (p.Pro514_Gly515delinsIleSer)	ERBB3	Indel (missense variant)	not provided	GUncertain significance
Select item 2441276	NM_001982.4(ERBB3):c.3674T>C (p.Met1225Thr)	ERBB3 (M1225T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 591496	NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg)	ERBB3 (L74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522965	NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del)	ERBB3 (E1191del)	Microsatellite (inframe_deletion)	Lethal congenital contracture syndrome 1	GUncertain significance
Select item 376411	NM_001982.4(ERBB3):c.310G>T (p.Val104Leu)	ERBB3 (V104L)	Single nucleotide variant (missense variant)	Gallbladder carcinoma +7 more	GLikely pathogenic
Select item 376409	NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn)	ERBB3 (D297N)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +4 more	GLikely pathogenic
Select item 376408	NM_001982.4(ERBB3):c.890A>T (p.Asp297Val)	ERBB3 (D297V)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +4 more	GLikely pathogenic
Select item 376407	NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr)	ERBB3 (D297Y)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +4 more	GLikely pathogenic
Select item 376191	NM_001982.4(ERBB3):c.2426A>G (p.Gln809Arg)	ERBB3 (Q809R)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376190	NM_001982.4(ERBB3):c.785C>A (p.Pro262His)	ERBB3 (P262H)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376167	NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg)	ERBB3 (G284R)	Single nucleotide variant (missense variant)	Neoplasm of stomach +1 more	GLikely pathogenic
Select item 374608	NM_001982.4(ERBB3):c.2274+1G>A	ERBB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 161588	NM_001982.4(ERBB3):c.2802G>C (p.Gln934His)	ERBB3 (Q934H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance