ClinVar for MedGen (Select 76013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 376692	NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	TP53 (Y102N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376691	NM_000546.6(TP53):c.700T>C (p.Tyr234His)	TP53 (Y102H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376690	NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	TP53 (Y102S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376689	NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	TP53 (Y181D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376688	NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	TP53 (Y181N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376687	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53 (Y181H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376673	NM_000546.6(TP53):c.815T>A (p.Val272Glu)	TP53 (V140E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376666	NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	TP53 (T125P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376665	NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	TP53 (S109A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376664	NM_000546.6(TP53):c.721T>C (p.Ser241Pro)	TP53 (S109P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376663	NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	TP53 (S109Y +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +14 more	GPathogenic/Likely pathogenic
Select item 376658	NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	TP53 (R148G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 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)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376656	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53 (R141S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic OOncogenic
Select item 376652	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53 (R116G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376651	NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	TP53 (R174G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376650	NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	TP53 (R174L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376649	NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	TP53 (R136G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376648	NM_000546.6(TP53):c.432G>T (p.Gln144His)	TP53 (Q105H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 376647	NM_000546.6(TP53):c.431A>T (p.Gln144Leu)	TP53 (Q105L +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 376641	NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	TP53 (P112A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376640	NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	TP53 (P112R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376639	NM_000546.6(TP53):c.452C>A (p.Pro151His)	TP53 (P112H +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
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)	Li-Fraumeni syndrome +2 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 breast ovarian cancer syndrome +4 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 +2 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 376628	NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	TP53 (K132Q +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +3 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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376626	NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	TP53 (K132E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic OLikely oncogenic
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 376616	NM_000546.6(TP53):c.641A>T (p.His214Leu)	TP53 (H175L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376615	NM_000546.6(TP53):c.641A>G (p.His214Arg)	TP53 (H175R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376614	NM_000546.6(TP53):c.577C>A (p.His193Asn)	TP53 (H154N +3 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +19 more	GLikely pathogenic
Select item 376613	NM_000546.6(TP53):c.577C>G (p.His193Asp)	TP53 (H154D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376612	NM_000546.6(TP53):c.578A>C (p.His193Pro)	TP53 (H154P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376605	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 376604	NM_000546.6(TP53):c.733G>C (p.Gly245Arg)	TP53 (G113R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376603	NM_000546.6(TP53):c.734G>T (p.Gly245Val)	TP53 (G113V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GPathogenic OOncogenic
Select item 376593	NM_000546.6(TP53):c.857A>C (p.Glu286Ala)	TP53 (E154A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 376592	NM_000546.6(TP53):c.857A>T (p.Glu286Val)	TP53 (E154V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376591	NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	TP53 (E154Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 376590	NM_000546.6(TP53):c.857A>G (p.Glu286Gly)	TP53 (E154G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376589	NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	TP53 (D149A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 376588	NM_000546.6(TP53):c.841G>C (p.Asp281His)	TP53 (D149H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376587	NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	TP53 (D149E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376585	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	TP53 (D149Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376584	NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	TP53 (C143R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376583	NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	TP53 (C143S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376582	NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	TP53 (C143F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic
Select item 376581	NM_000546.6(TP53):c.724T>G (p.Cys242Gly)	TP53 (C110G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376580	NM_000546.6(TP53):c.726C>G (p.Cys242Trp)	TP53 (C110W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic
Select item 376579	NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	TP53 (C110S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376578	NM_000546.6(TP53):c.725G>T (p.Cys242Phe)	TP53 (C110F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity OOncogenic
Select item 376577	NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	TP53 (C106G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni 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)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376575	NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	TP53 (C106S +3 more)	Single nucleotide variant (missense variant)	not provided +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)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376573	NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	TP53 (C137R +3 more)	Single nucleotide variant (missense variant)	Breast neoplasm +3 more	GConflicting classifications of pathogenicity
Select item 376572	NM_000546.6(TP53):c.528C>G (p.Cys176Trp)	TP53 (C137W +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376571	NM_000546.6(TP53):c.526T>G (p.Cys176Gly)	TP53 (C137G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376570	NM_000546.6(TP53):c.526T>A (p.Cys176Ser)	TP53 (C137S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376569	NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	TP53 (C137F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376563	NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	TP53 (C135G +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376562	NM_000546.6(TP53):c.403T>A (p.Cys135Ser)	TP53 (C135S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376561	NM_000546.6(TP53):c.405C>G (p.Cys135Trp)	TP53 (C135W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376560	NM_000546.6(TP53):c.403T>C (p.Cys135Arg)	TP53 (C135R +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 376559	NM_000546.6(TP53):c.404G>T (p.Cys135Phe)	TP53 (C135F +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376536	NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)	SF3B1 (R625G)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376535	NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)	SF3B1 (R625C)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +3 more	GLikely pathogenic
Select item 376534	NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)	SF3B1 (R625H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 376529	NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr)	RXRA (S330Y +2 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +2 more	GLikely pathogenic
Select item 376528	NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe)	RXRA (S330F +2 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +2 more	GLikely pathogenic
Select item 376527	NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)	CNOT9 (S87C)	Single nucleotide variant (missense variant +1 more)	Prostate adenocarcinoma +4 more	GLikely pathogenic
Select item 376526	NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)	CNOT9 (S87P)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376516	NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)	RHEB (Y35C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376515	NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn)	RHEB (Y35N)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 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 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 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 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 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 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 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)	CLOVES syndrome +2 more	GConflicting classifications of pathogenicity
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)	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 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 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 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

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