"GeneDx"[submitter] AND "ERBB3"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1235907	NC_000012.12:g.56079996G>A	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1292949	NC_000012.12:g.56080024T>C	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1283687	NC_000012.12:g.56080106T>A	ERBB3	Single nucleotide variant	not provided	GBenign
Select item 1316548	NM_001005915.1(ERBB3):c.-193A>T	ERBB3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1293095	NM_001982.4(ERBB3):c.82+213T>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182433	NM_001982.4(ERBB3):c.83-46G>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255390	NM_001982.4(ERBB3):c.234+8A>T	ERBB3	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 2 +2 more	GBenign
Select item 1286166	NM_001982.4(ERBB3):c.234+316A>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295721	NM_001982.4(ERBB3):c.235-172G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270811	NM_001982.4(ERBB3):c.235-165A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221690	NM_001982.4(ERBB3):c.235-121A>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225126	NM_001982.4(ERBB3):c.235-97A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318382	NM_001982.4(ERBB3):c.421+249C>T	ERBB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317838	NM_001982.4(ERBB3):c.422-229C>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266560	NM_001982.4(ERBB3):c.547+34C>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181926	NM_001982.4(ERBB3):c.547+143G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271406	NM_001982.4(ERBB3):c.547+208G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316571	NM_001982.4(ERBB3):c.547+326A>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316573	NM_001982.4(ERBB3):c.732+38G>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316296	NM_001982.4(ERBB3):c.733-30A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250075	NM_001982.4(ERBB3):c.875-147T>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318055	NM_001982.4(ERBB3):c.1109+202A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253759	NM_001982.4(ERBB3):c.1109+207G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369379	NM_001982.4(ERBB3):c.1113C>G (p.Asp371Glu)	ERBB3 (D371E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269955	NM_001982.4(ERBB3):c.1347T>C (p.Ile449=)	ERBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1222418	NM_001982.4(ERBB3):c.1860-293dup	ERBB3	Duplication (intron variant)	not provided	GBenign
Select item 1237576	NM_001982.4(ERBB3):c.1860-128G>A	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317531	NM_001982.4(ERBB3):c.2460+202del	ERBB3	Deletion (intron variant)	not provided	GLikely benign
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 1292973	NM_001982.4(ERBB3):c.2616+156T>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246149	NM_001982.4(ERBB3):c.2616+261A>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267371	NM_001982.4(ERBB3):c.2617-238del	ERBB3	Deletion (intron variant)	not provided	GBenign
Select item 1240884	NM_001982.4(ERBB3):c.2617-239_2617-238del	ERBB3	Deletion (intron variant)	not provided	GBenign
Select item 1316831	NM_001982.4(ERBB3):c.2839+282C>G	ERBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226099	NM_001982.4(ERBB3):c.3129+9A>C	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)	Visceral neuropathy, familial +2 more	GBenign
Select item 1178942	NM_001982.4(ERBB3):c.3355A>T (p.Ser1119Cys)	ERBB3 (S1119C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713497	NM_001982.4(ERBB3):c.3380G>A (p.Arg1127His)	ERBB3 (R1127H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1230429	NM_001982.4(ERBB3):c.3502+17A>C	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266729	NM_001982.4(ERBB3):c.3503-7C>T	ERBB3	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 41