ClinVar for MedGen (Select 42228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177145	t(10;19)(q26.13;q13.43)	FGFR2, ZNF135	Translocation	Glioblastoma	GUncertain significance
Select item 1177132	inv(9)(p12q21.33)	CNTNAP3, NTRK2	Inversion	Glioblastoma	GUncertain significance
Select item 1177131	inv(2)(p23.1p23.2)	ALK	Inversion	Glioblastoma	GUncertain significance
Select item 1177130	t(2;15)(q23.1;q25.3)	KIF5C, NTRK3	Translocation	Glioblastoma	GUncertain significance
Select item 635110	NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)	DNMT3A (P715S +3 more)	Single nucleotide variant (missense variant +1 more)	Glioblastoma	GLikely pathogenic
Select item 590849	NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)	MSH2 (N653fs +1 more)	Deletion (frameshift variant)	Glioblastoma	GPathogenic
Select item 555284	NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	ATM, C11orf65 (W2845*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 438772	NM_005120.3(MED12):c.5980C>T (p.Arg1994Trp)	MED12 (R1994W)	Single nucleotide variant (missense variant)	Glioblastoma	Gother
Select item 438766	NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg)	H3-3A (G35R)	Single nucleotide variant (missense variant)	Glioblastoma	Gother
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 +2 more	GPathogenic/Likely pathogenic
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)	Hereditary cancer-predisposing syndrome +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 376686	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	TP53 (Y166D +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 376685	NM_000546.6(TP53):c.613T>C (p.Tyr205His)	TP53 (Y166H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376684	NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	TP53 (Y166N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376683	NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)	TP53 (Y166S +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +15 more	GLikely pathogenic
Select item 376682	NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)	TP53 (Y166F +3 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +15 more	GLikely pathogenic
Select item 376681	NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	TP53 (Y166C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 376672	NM_000546.6(TP53):c.647T>A (p.Val216Glu)	TP53 (V177E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 376671	NM_000546.6(TP53):c.647T>G (p.Val216Gly)	TP53 (V177G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376670	NM_000546.6(TP53):c.646G>T (p.Val216Leu)	TP53 (V177L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 +2 more	GPathogenic/Likely pathogenic
Select item 376666	NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	TP53 (T125P +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni 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)	Li-Fraumeni syndrome 1 +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 +3 more	GPathogenic/Likely pathogenic
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 376656	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53 (R141S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 +14 more	GPathogenic
Select item 376654	NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	TP53 (R117G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376653	NM_000546.6(TP53):c.746G>T (p.Arg249Met)	TP53 (R117M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376652	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53 (R116G +3 more)	Single nucleotide variant (missense variant)	Carcinoma of colon +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)	Li-Fraumeni syndrome 1 +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 +3 more	GPathogenic/Likely pathogenic
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 1 +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)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376632	NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	TP53 (L111Q +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376631	NM_000546.6(TP53):c.332T>G (p.Leu111Arg)	TP53 (L111R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376630	NM_000546.6(TP53):c.332T>C (p.Leu111Pro)	TP53 (L111P +1 more)	Single nucleotide variant (missense variant)	not provided +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 +2 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 +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)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 376623	NM_000546.6(TP53):c.764T>C (p.Ile255Thr)	TP53 (I123T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376622	NM_000546.6(TP53):c.764T>G (p.Ile255Ser)	TP53 (I123S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376621	NM_000546.6(TP53):c.763A>T (p.Ile255Phe)	TP53 (I123F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376620	NM_000546.6(TP53):c.585C>G (p.Ile195Met)	TP53 (I156M +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 376619	NM_000546.6(TP53):c.584T>G (p.Ile195Ser)	TP53 (I156S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376618	NM_000546.6(TP53):c.584T>A (p.Ile195Asn)	TP53 (I156N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376617	NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	TP53 (I156F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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	GLikely pathogenic FDA Recognized database
Select item 376611	NM_000546.6(TP53):c.536A>C (p.His179Pro)	TP53 (H140P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376610	NM_000546.6(TP53):c.535C>G (p.His179Asp)	TP53 (H140D +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 376609	NM_000546.6(TP53):c.535C>A (p.His179Asn)	TP53 (H140N +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376608	NM_000546.6(TP53):c.536A>T (p.His179Leu)	TP53 (H140L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376607	NM_000546.6(TP53):c.537T>G (p.His179Gln)	TP53 (H140Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376606	NM_000546.6(TP53):c.536A>G (p.His179Arg)	TP53 (H140R +3 more)	Single nucleotide variant (missense variant)	TP53-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 376605	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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)	Li-Fraumeni 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)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 376602	NM_000546.6(TP53):c.730G>C (p.Gly244Arg)	TP53 (G112R +3 more)	Single nucleotide variant (missense variant)	Glioblastoma +12 more	GLikely pathogenic
Select item 376601	NM_000546.6(TP53):c.731G>T (p.Gly244Val)	TP53 (G112V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 376600	NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	TP53 (G112S +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +3 more	GPathogenic
Select item 376599	NM_000546.6(TP53):c.730G>T (p.Gly244Cys)	TP53 (G112C +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
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 1 +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	GUncertain significance
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 +1 more	GPathogenic/Likely pathogenic
Select item 376584	NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	TP53 (C143R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +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	GUncertain significance
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)	Hereditary cancer-predisposing syndrome +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)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
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/Likely pathogenic
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)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely 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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 376503	NM_006231.4(POLE):c.1231G>T (p.Val411Leu)	POLE (V411L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 5 +3 more	GPathogenic
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 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)	Cowden syndrome +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

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