ClinVar for MedGen (Select 40201) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376658	NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	TP53 (R148G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376657	NM_000546.6(TP53):c.839G>A (p.Arg280Lys)	TP53 (R148K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376635	NM_000546.6(TP53):c.581T>C (p.Leu194Pro)	TP53 (L155P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376634	NM_000546.6(TP53):c.581T>A (p.Leu194His)	TP53 (L155H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376633	NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	TP53 (L155R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376629	NM_000546.6(TP53):c.395A>T (p.Lys132Met)	TP53 (K132M +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376628	NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	TP53 (K132Q +1 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +1 more	GConflicting classifications of pathogenicity
Select item 376627	NM_000546.6(TP53):c.395A>C (p.Lys132Thr)	TP53 (K132T +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376626	NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	TP53 (K132E +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376625	NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	TP53 (K132R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376624	NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	TP53 (K132N +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GLikely pathogenic FDA Recognized database
Select item 376577	NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	TP53 (C106G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376576	NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	TP53 (C106R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 376575	NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	TP53 (C106S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376574	NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	TP53 (C106F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376541	NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro)	SMAD4 (R361P)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376510	NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)	PTEN (R233Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 376509	NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	PTEN (R130L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
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 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376496	NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)	PIK3CA (R38G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376495	NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)	PIK3CA (R38L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376494	NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)	PIK3CA (R38S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376493	NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)	PIK3CA (R38C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 376492	NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	PIK3CA (R38H)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic
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 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 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +21 more	GLikely pathogenic
Select item 376480	NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg)	PIK3CA (G106R)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +5 more	GLikely pathogenic
Select item 376479	NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	PIK3CA (G106V)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA (E81K)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +3 more	GPathogenic
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 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 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)	Neoplasm of uterine cervix +15 more	GLikely pathogenic
Select item 376473	NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)	PIK3CA (E542A)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +16 more	GPathogenic/Likely pathogenic
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 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376450	NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys)	MAPK1 (E322K)	Single nucleotide variant (missense variant)	Transitional cell carcinoma of the bladder +2 more	GLikely pathogenic
Select item 376443	NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)	HRAS, LRRC56 (G13A)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 376442	NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)	HRAS, LRRC56 (A146P)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma +5 more	GLikely pathogenic
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 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 376425	NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)	FBXW7 (R505H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376424	NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)	FBXW7 (R505L +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 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 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 376418	NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)	FBXW7 (R465G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376417	NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)	FBXW7 (R465L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +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)	Neoplasm of uterine cervix +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)	Neoplasm of uterine cervix +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 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 376410	NM_001982.4(ERBB3):c.310G>A (p.Val104Met)	ERBB3 (V104M)	Single nucleotide variant (missense variant)	Transitional cell carcinoma of the bladder +8 more	GPathogenic/Likely 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 376402	NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr)	EP300 (D1399Y +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +5 more	GLikely pathogenic
Select item 376401	NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn)	EP300 (D1399N +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +5 more	GLikely pathogenic
Select item 376388	NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)	CREBBP (R1446G +1 more)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +10 more	GLikely pathogenic
Select item 376387	NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)	CREBBP (R1446H +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +10 more	GLikely pathogenic
Select item 376386	NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)	CREBBP (R1446L +1 more)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +10 more	GLikely pathogenic
Select item 376244	NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)	PIK3CA (E542Q)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +17 more	GPathogenic/Likely pathogenic
Select item 376235	NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)	LOC126806658, CTNNB1 (S37A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 376234	NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)	CTNNB1, LOC126806658 (S37P +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 376230	NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)	CTNNB1, LOC126806658 (D32V +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +8 more	GLikely pathogenic
Select item 376229	NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)	CTNNB1, LOC126806658 (D32A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376228	NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)	CTNNB1, LOC126806658 (D32N +1 more)	Single nucleotide variant (missense variant)	Juvenile nasopharyngeal angiofibroma	GPathogenic
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 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376054	NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)	CTNNB1, LOC126806658 (D32H +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376026	NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)	U2AF1 (S34Y)	Single nucleotide variant (missense variant +1 more)	Uterine carcinosarcoma +8 more	GLikely pathogenic
Select item 376025	NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe)	U2AF1 (S34F)	Single nucleotide variant (missense variant +1 more)	Uterine carcinosarcoma +8 more	GLikely pathogenic
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 375958	NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	PTEN (R130G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
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)	Malignant neoplasm of body of uterus +13 more	GPathogenic/Likely pathogenic
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 375894	NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)	CTNNB1, LOC126806658 (S37Y +1 more)	Single nucleotide variant (missense variant)	Melanoma +10 more	GPathogenic/Likely pathogenic
Select item 222469	NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]	PIK3CA (E545A +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 5	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 210045	NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)	GNAS (R201L +5 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +10 more	GLikely pathogenic
Select item 182935	NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	TP53 (C106Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 161517	NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	TP53 (R148I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA (G118D)	Single nucleotide variant (missense variant)	Cowden syndrome +2 more	GPathogenic

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