ClinVar for MedGen (Select 257911) - 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 3257757	NM_005228.5(EGFR):c.865_866delinsCT	EGFR (A289V +5 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
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 3067904	NM_003842.5(TNFRSF10B):c.598del (p.Ser200fs)	TNFRSF10B (S200fs)	Deletion (frameshift variant +1 more)	Squamous cell carcinoma of the head and neck	GLikely pathogenic
Select item 826438	NM_000546.6(TP53):c.648G>C (p.Val216=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +3 more	GBenign/Likely benign
Select item 803312	NM_000546.6(TP53):c.-43G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 803311	NM_000546.6(TP53):c.-29+5G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 803310	NM_000546.6(TP53):c.376-161_376-158del	TP53	Deletion (intron variant)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 803309	NM_000546.6(TP53):c.376-160_376-158del	TP53	Deletion (intron variant)	Squamous cell carcinoma of the head and neck +3 more	GBenign/Likely benign
Select item 803308	NM_000546.6(TP53):c.376-158del	TP53	Deletion (intron variant)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 803307	NM_000546.6(TP53):c.713dup (p.Cys238fs)	TP53 (C238fs +3 more)	Duplication (frameshift variant)	Squamous cell carcinoma of the head and neck	GPathogenic
Select item 803306	NM_000546.6(TP53):c.993+257del	TP53	Deletion (3 prime UTR variant +1 more)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 694356	Single allele	DPYD	Deletion	Squamous cell carcinoma of the head and neck	GLikely pathogenic
Select item 694080	NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)	SLC29A1, POLR1C (P33L +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 694079	NM_203500.2(KEAP1):c.700C>T (p.Arg234Trp)	KEAP1 (R234W)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 661083	NM_000546.6(TP53):c.993+5T>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 659670	NM_000546.6(TP53):c.383del (p.Pro128fs)	TP53 (P128fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 627658	NM_000546.6(TP53):c.783-34C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 584921	NM_000546.6(TP53):c.718A>G (p.Ser240Gly)	TP53 (S201G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 584920	NM_000546.6(TP53):c.993+303T>A	TP53 (I211K +3 more)	Single nucleotide variant (missense variant +2 more)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 584919	NM_000546.6(TP53):c.1069A>G (p.Lys357Glu)	TP53 (K225E +3 more)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 492614	NM_000546.6(TP53):c.783-33T>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 458574	NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	TP53 (R267Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 419454	NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	TP53 (G147E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 406596	NM_000546.6(TP53):c.646G>C (p.Val216Leu)	TP53 (V84L +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +1 more	GConflicting classifications of pathogenicity
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 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 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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376670	NM_000546.6(TP53):c.646G>T (p.Val216Leu)	TP53 (V177L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 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 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 376654	NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	TP53 (R117G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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)	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 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 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)	not provided +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

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