C1168401[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376468	NM_006164.5(NFE2L2):c.237G>T (p.Glu79Asp)	NFE2L2 (E63D +2 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +5 more	GLikely pathogenic
Select item 376467	NM_006164.5(NFE2L2):c.236A>T (p.Glu79Val)	NFE2L2 (E63V +2 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm of uterine cervix +5 more	GLikely pathogenic
Select item 376466	NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)	NFE2L2 (E63K +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm of uterine cervix +6 more	GPathogenic/Likely pathogenic
Select item 376465	NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln)	NFE2L2 (E63Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +5 more	GLikely pathogenic
Select item 376464	NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly)	NFE2L2 (D13G +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376463	NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn)	NFE2L2 (D13N +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376462	NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr)	NFE2L2 (D13Y +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376461	NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)	NFE2L2 (D13H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376233	NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)	CTNNB1, LOC126806658 (G34R +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376390	NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)	CTNNB1, LOC126806658 (G34A +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +7 more	GLikely pathogenic
Select item 17584	NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)	CTNNB1, LOC126806658 (G34E +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GPathogenic/Likely pathogenic; other
Select item 17582	NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)	CTNNB1, LOC126806658 (G34V +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma +11 more	GConflicting classifications of pathogenicity
Select item 376524	NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe)	RHOA (Y42F)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376523	NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser)	RHOA (Y42S)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376522	NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys)	RHOA (Y42C)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376518	NM_001664.4(RHOA):c.118G>A (p.Glu40Lys)	RHOA (E40K)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 376517	NM_001664.4(RHOA):c.118G>C (p.Glu40Gln)	RHOA (E40Q)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +3 more	GLikely pathogenic
Select item 376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA (E81K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 376049	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	PIK3CA (R88Q)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +5 more	GPathogenic OOncogenic
Select item 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 376484	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	PIK3CA (K111R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376483	NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)	PIK3CA (K111N)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA (G118D)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +3 more	GPathogenic
Select item 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome 5 +3 more	GPathogenic
Select item 376499	NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)	PIK3CA (V344A)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Breast neoplasm +8 more	GLikely pathogenic
Select item 376490	NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)	PIK3CA (N345H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +9 more	GLikely pathogenic
Select item 376489	NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)	PIK3CA (N345T)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic
Select item 376488	NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)	PIK3CA (N345I)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +9 more	GLikely pathogenic
Select item 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GPathogenic
Select item 376471	NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)	PIK3CA (E453Q)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA (E453K)	Single nucleotide variant (missense variant)	CLOVES syndrome +5 more	GPathogenic
Select item 376472	NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)	PIK3CA (E453D)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376244	NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)	PIK3CA (E542Q)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +17 more	GPathogenic/Likely pathogenic
Select item 31944	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA (E542K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376475	NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)	PIK3CA (E542G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 376474	NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)	PIK3CA (E542V)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +15 more	GLikely pathogenic
Select item 376473	NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)	PIK3CA (E542A)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +16 more	GPathogenic/Likely pathogenic
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Small cell lung carcinoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic OOncogenic
Select item 13659	NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	PIK3CA (E545A)	Single nucleotide variant (missense variant)	Ovarian neoplasm	GPathogenic
Select item 13656	NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	PIK3CA (E545G)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 217293	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	PIK3CA (E545D)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic/Likely pathogenic
Select item 13657	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	PIK3CA (Q546K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13654	NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)	PIK3CA (Q546E)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +13 more	GPathogenic/Likely pathogenic
Select item 375899	NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)	PIK3CA (Q546L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GPathogenic/Likely pathogenic
Select item 375898	NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	PIK3CA (Q546P)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 45466	NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	PIK3CA (Q546R)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GPathogenic OOncogenic
Select item 376491	NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)	PIK3CA (Q546H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GLikely pathogenic
Select item 376476	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	PIK3CA (E726K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376477	NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)	PIK3CA (E726A)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +7 more	GLikely pathogenic
Select item 376487	NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)	PIK3CA (M1043L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376485	NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)	PIK3CA (M1043V)	Single nucleotide variant (missense variant)	Breast neoplasm +11 more	GLikely pathogenic OOncogenic
Select item 376486	NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)	PIK3CA (M1043T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 179173	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	PIK3CA (M1043I)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic/Likely pathogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	not provided +18 more	GPathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic OOncogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +21 more	GLikely pathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +31 more	GPathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
Select item 376427	NM_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln)	FBXW7 (R658Q +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376425	NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)	FBXW7 (R505H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 376424	NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)	FBXW7 (R505L +2 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +11 more	GLikely pathogenic
Select item 376426	NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)	FBXW7 (R505S +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376423	NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)	FBXW7 (R505G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 69961	NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)	FBXW7 (R505C +2 more)	Single nucleotide variant (missense variant)	FBXW7-related neurodevelopmental disorder	GLikely pathogenic
Select item 376421	NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)	FBXW7 (R479L +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376420	NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)	FBXW7 (R479P +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376419	NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)	FBXW7 (R479Q +2 more)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +11 more	GLikely pathogenic
Select item 376422	NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)	FBXW7 (R479G +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376417	NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)	FBXW7 (R465L +2 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +13 more	GLikely pathogenic
Select item 376416	NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)	FBXW7 (R465P +2 more)	Single nucleotide variant (missense variant)	Breast neoplasm +13 more	GLikely pathogenic
Select item 376415	NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)	FBXW7 (R465H +2 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +13 more	GLikely pathogenic
Select item 376418	NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)	FBXW7 (R465G +2 more)	Single nucleotide variant (missense variant)	Breast neoplasm +13 more	GLikely pathogenic
Select item 376414	NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)	FBXW7 (R465C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376436	NM_003533.3(H3C11):c.83A>T (p.Lys28Met)	H3C11 (K28M)	Single nucleotide variant (missense variant)	Brainstem glioma +1 more	GLikely pathogenic
Select item 376437	NM_003533.3(H3C11):c.82A>G (p.Lys28Glu)	H3C11 (K28E)	Single nucleotide variant (missense variant)	Brainstem glioma +1 more	GLikely pathogenic
Select item 376513	NM_006908.5(RAC1):c.85C>A (p.Pro29Thr)	RAC1 (P29T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376362	NM_006908.5(RAC1):c.85C>T (p.Pro29Ser)	RAC1 (P29S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376512	NM_006908.5(RAC1):c.86C>T (p.Pro29Leu)	RAC1 (P29L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376398	NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)	EGFR (A289I +2 more)	Indel (missense variant +1 more)	Glioblastoma +2 more	GLikely pathogenic
Select item 376397	NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn)	EGFR (A289N +2 more)	Indel (missense variant +1 more)	Glioblastoma +2 more	GLikely pathogenic
Select item 376395	NM_005228.5(EGFR):c.865G>A (p.Ala289Thr)	EGFR (A289T +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer +1 more	GUncertain significance OLikely oncogenic
Select item 376396	NM_005228.5(EGFR):c.866C>A (p.Ala289Asp)	EGFR (A289D +2 more)	Single nucleotide variant (missense variant +1 more)	Glioblastoma +3 more	GLikely pathogenic OOncogenic
Select item 376209	NM_005228.5(EGFR):c.866C>T (p.Ala289Val)	EGFR (A289V +2 more)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the head and neck +3 more	GLikely pathogenic OOncogenic
Select item 376080	NM_005228.5(EGFR):c.2234A>G (p.Lys745Arg)	EGFR (K745R +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GLikely pathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 375947	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	BRAF (D594H +7 more)	Single nucleotide variant (missense variant)	Melanoma +9 more	GPathogenic/Likely pathogenic
Select item 44813	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF (D594N +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 376295	NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)	BRAF (G466A +7 more)	Single nucleotide variant (missense variant)	Melanoma +6 more	GLikely pathogenic
Select item 376073	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	BRAF (G466E +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 13967	NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	BRAF (G466V +7 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +7 more	GPathogenic/Likely pathogenic
Select item 376383	NM_000077.5(CDKN2A):c.341C>A (p.Pro114His)	CDKN2A (P114H +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 77637	NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)	CDKN2A (P114L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 376382	NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr)	CDKN2A (A128D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 376381	NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	CDKN2A (H83Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 376379	NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)	CDKN2A (H83R +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376380	NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)	CDKN2A (A97G +2 more)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +7 more	GLikely pathogenic

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