Related gene-specific medical variations for Gene (Select 2064) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1642019	NM_004448.4(ERBB2):c.2873-5C>T	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1589358	NM_004448.4(ERBB2):c.2873-17C>A	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1571778	NM_004448.4(ERBB2):c.2873-15T>A	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1319104	NM_004448.4(ERBB2):c.760-5C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 376406	NM_004448.4(ERBB2):c.2329G>A (p.Val777Met)	ERBB2 (V747M +18 more)	Single nucleotide variant (missense variant +2 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376404	NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met)	ERBB2 (L725M +17 more)	Single nucleotide variant (missense variant +2 more)	Papillary renal cell carcinoma, sporadic +6 more	GLikely pathogenic
Select item 376403	NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn)	ERBB2 (D739N +17 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm of uterine cervix +4 more	GLikely pathogenic
Select item 376344	NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln)	ERBB2 (R648Q +13 more)	Single nucleotide variant (missense variant +2 more)	Prostate adenocarcinoma +4 more	GLikely pathogenic
Select item 376343	NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp)	ERBB2 (L725W +17 more)	Single nucleotide variant (missense variant +2 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376333	NM_004448.4(ERBB2):c.2354T>C (p.Leu785Pro)	ERBB2 (L755P +18 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GLikely pathogenic
Select item 376205	NM_004448.4(ERBB2):c.926G>C (p.Gly309Ala)	ERBB2 (G279A +7 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GLikely pathogenic
Select item 376189	NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe)	ERBB2 (S280F +7 more)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376188	NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr)	ERBB2 (S280Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 376036	NM_004448.4(ERBB2):c.2329G>C (p.Val777Leu)	ERBB2 (V747L +18 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GLikely pathogenic
Select item 376035	NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser)	ERBB2 (L725S +17 more)	Single nucleotide variant (missense variant +2 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 375995	NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys)	ERBB2 (R866C +21 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GPathogenic
Select item 375993	NM_004448.4(ERBB2):c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer)	ERBB2	Insertion (inframe_insertion +2 more)	Breast neoplasm	GPathogenic
Select item 375992	NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr)	ERBB2 (D739Y +17 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm of uterine cervix +4 more	GPathogenic/Likely pathogenic
Select item 375991	NM_004448.4(ERBB2):c.2305G>C (p.Asp769His)	ERBB2 (D739H +17 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm of uterine cervix +4 more	GPathogenic/Likely pathogenic
Select item 375990	NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del)	ERBB2	Deletion (inframe_deletion +2 more)	Breast neoplasm	GPathogenic
Select item 161622	NM_004448.4(ERBB2):c.2706G>C (p.Gln902His)	ERBB2 (Q872H +21 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 135522	NM_004448.4(ERBB2):c.1021+48C>T	ERBB2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135521	NM_004448.4(ERBB2):c.1021+31C>T	ERBB2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135519	NM_001289936.2(ERBB2):c.22C>A (p.Pro8Thr)	ERBB2 (P8T)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134077	NM_004448.4(ERBB2):c.2440C>T (p.Arg814Cys)	ERBB2 (R784C +18 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134074	NM_004448.4(ERBB2):c.133A>G (p.Met45Val)	ERBB2 (M15V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134069	NM_004448.4(ERBB2):c.1169C>T (p.Ala390Val)	ERBB2 (A360V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133279	NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132963	NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn)	ERBB2 (S1019N +21 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132948	NM_004448.4(ERBB2):c.2605C>T (p.Leu869=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Neoplasm of ovary	Gnot provided
Select item 132947	NM_004448.4(ERBB2):c.2568C>T (p.Pro856=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132946	NM_004448.4(ERBB2):c.2520G>A (p.Arg840=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	Gnot provided
Select item 132945	NM_004448.4(ERBB2):c.2506C>T (p.Leu836=)	ERBB2	Single nucleotide variant (synonymous variant +2 more)	Endometrial carcinoma	Gnot provided

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Links from Gene

Items: 33