ClinVar for MedGen (Select 3171) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
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 376739	NM_017449.5(EPHB2):c.2356G>A (p.Gly786Arg)	EPHB2 (G786R +2 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine	GLikely pathogenic
Select item 376697	NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)	XPO1 (E571A)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376696	NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)	XPO1 (E571V)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376695	NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)	XPO1 (E571K)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376694	NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)	TP53 (Y104N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376693	NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	TP53 (Y104C +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity OOncogenic
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 376686	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	TP53 (Y166D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +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 +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)	Hereditary cancer-predisposing syndrome +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)	Multiple myeloma +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)	Multiple myeloma +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)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 376680	NM_000546.6(TP53):c.487T>C (p.Tyr163His)	TP53 (Y124H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376679	NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)	TP53 (Y124N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376678	NM_000546.6(TP53):c.820G>C (p.Val274Leu)	TP53 (V142L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376677	NM_000546.6(TP53):c.821T>C (p.Val274Ala)	TP53 (V142A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376676	NM_000546.6(TP53):c.821T>G (p.Val274Gly)	TP53 (V142G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376675	NM_000546.6(TP53):c.821T>A (p.Val274Asp)	TP53 (V142D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376674	NM_000546.6(TP53):c.820G>T (p.Val274Phe)	TP53 (V142F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 376669	NM_000546.6(TP53):c.518T>A (p.Val173Glu)	TP53 (V134E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376668	NM_000546.6(TP53):c.517G>T (p.Val173Leu)	TP53 (V134L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +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 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 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376645	NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	TP53 (P146A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376644	NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	TP53 (P146R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376643	NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	TP53 (P146T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376642	NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	TP53 (P146S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 376638	NM_000546.6(TP53):c.716A>C (p.Asn239Thr)	TP53 (N107T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376637	NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	TP53 (N107S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GLikely pathogenic
Select item 376636	NM_000546.6(TP53):c.710T>A (p.Met237Lys)	TP53 (M105K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 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 +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 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)	Hereditary cancer-predisposing syndrome +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 1 +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)	Li-Fraumeni 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	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 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)	Hereditary cancer-predisposing syndrome +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)	not provided +4 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)	not provided +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)	Li-Fraumeni syndrome +3 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)	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 376602	NM_000546.6(TP53):c.730G>C (p.Gly244Arg)	TP53 (G112R +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +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)	Li-Fraumeni syndrome 1 +4 more	GPathogenic OOncogenic
Select item 376599	NM_000546.6(TP53):c.730G>T (p.Gly244Cys)	TP53 (G112C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 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 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

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