ClinVar for MedGen (Select 264172) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 670

<< First< Prev

Page of 7

	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 1706625	NM_001826.3(CKS1B):c.51del (p.Phe17fs)	CKS1B, LOC129931529 +1 more (F17fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 1706624	NM_001826.3(CKS1B):c.33del (p.Lys11fs)	CKS1B, SHC1 (K11fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 1706623	NM_002228.4(JUN):c.659del (p.Pro220fs)	JUN, LOC129930620 (P220fs)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 1706622	NM_002185.5(IL7R):c.470del (p.Lys157fs)	IL7R (K157fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 1706621	NM_000586.4(IL2):c.134del (p.Ile44_Leu45insTer)	IL2	Deletion (nonsense)	Breast neoplasm	GPathogenic
Select item 1706620	NM_000586.4(IL2):c.433del (p.Cys145fs)	IL2 (C145fs)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 984968	NM_001130009.3(GEN1):c.2619T>G (p.Ser873Arg)	GEN1 (S873R)	Single nucleotide variant (missense variant)	Breast neoplasm +1 more	GBenign/Likely benign
Select item 982766	NM_000535.7(PMS2):c.2109G>C (p.Thr703=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 982570	NM_177438.3(DICER1):c.1376+6del	DICER1	Deletion (intron variant)	Breast neoplasm	GUncertain significance
Select item 915268	NM_000059.4(BRCA2):c.732_733del (p.Asp244fs)	BRCA2 (D244fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 915267	NM_000059.4(BRCA2):c.613_614del (p.Ser205fs)	BRCA2 (S205fs)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 689558	NM_007194.4(CHEK2):c.1504del (p.Glu502fs)	CHEK2 (E281fs +4 more)	Deletion (frameshift variant)	Breast neoplasm	GLikely pathogenic
Select item 560006	NM_007194.4(CHEK2):c.1128del (p.Glu377fs)	CHEK2 (E156fs +4 more)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 559999	NM_000059.4(BRCA2):c.5879del (p.Cys1960fs)	BRCA2 (C1960fs)	Deletion (frameshift variant)	Breast neoplasm	GPathogenic
Select item 559989	NM_000059.4(BRCA2):c.4639G>A (p.Asp1547Asn)	BRCA2 (D1547N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 559977	NM_007294.4(BRCA1):c.1966A>T (p.Asn656Tyr)	BRCA1 (N656Y +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 559970	NM_007294.4(BRCA1):c.4484+2T>C	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast neoplasm	GPathogenic
Select item 548381	NM_000059.4(BRCA2):c.800dup (p.Thr269fs)	BRCA2 (T269fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 461162	NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)	BRIP1 (E1222fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 455676	NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)	PMS2 (E661K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 446475	NM_000314.8(PTEN):c.249C>A (p.Cys83Ter)	PTEN (C83* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 438997	NM_000059.4(BRCA2):c.63A>G (p.Lys21=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 430632	NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter)	BRCA1 (E181* +11 more)	Single nucleotide variant (nonsense +1 more)	Breast neoplasm +1 more	GPathogenic
Select item 430604	NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs)	BRCA1 (G1560fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 430603	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2 (M1fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 430601	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2 (S286*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430600	NM_000059.4(BRCA2):c.2754del (p.Asn918fs)	BRCA2 (N918fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430599	NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)	BRCA2 (K1108*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430598	NM_000059.4(BRCA2):c.8206del (p.Leu2736fs)	BRCA2 (L2736fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430597	NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)	BRCA2 (F2801fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430596	NM_024675.4(PALB2):c.3143del (p.Lys1048fs)	PALB2 (K1048fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 430595	NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)	PALB2 (T827fs)	Microsatellite (frameshift variant)	Breast neoplasm +3 more	GPathogenic
Select item 430594	NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)	PALB2 (E215*)	Single nucleotide variant (nonsense)	Breast neoplasm +1 more	GPathogenic
Select item 430593	NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter)	ATM, C11orf65 (W2104*)	Single nucleotide variant (nonsense +1 more)	Breast neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 430592	NM_000546.6(TP53):c.416_420dup (p.Cys141fs)	TP53 (C102fs +2 more)	Duplication (frameshift variant +1 more)	Breast neoplasm +1 more	GPathogenic
Select item 430591	NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	BRIP1 (Y748*)	Single nucleotide variant (nonsense)	Breast neoplasm +6 more	GPathogenic/Likely pathogenic
Select item 430590	NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)	BARD1 (W218* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 430589	Single allele	BRCA1	Deletion	Breast neoplasm	GPathogenic
Select item 417831	NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs)	BRCA1, LOC126862571 (N1215fs +21 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 410589	NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu)	GALNT12 (P240L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 409559	NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)	BRCA2 (Y828H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376747	NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala)	CHEK2 (D347A +3 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GLikely pathogenic
Select item 376746	NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe)	CHEK2 (V395F +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 376737	NM_213647.3(FGFR4):c.1100A>G (p.Tyr367Cys)	FGFR4 (Y367C)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GLikely pathogenic
Select item 376704	NM_005406.3(ROCK1):c.3577C>T (p.Pro1193Ser)	ROCK1 (P1193S)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	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)	Hereditary cancer-predisposing syndrome +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)	Li-Fraumeni 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)	Li-Fraumeni syndrome 1 +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)	Li-Fraumeni 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 +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 +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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing 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 +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 +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)	Li-Fraumeni 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 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)	Li-Fraumeni 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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +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)	not provided +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)	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)	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)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376662	NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	TP53 (S176N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376661	NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	TP53 (S176R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376660	NM_000546.6(TP53):c.644G>T (p.Ser215Ile)	TP53 (S176I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 +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 +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 +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)	Li-Fraumeni 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 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)	Hereditary cancer-predisposing syndrome +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)	Li-Fraumeni syndrome +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)	Li-Fraumeni 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)	Li-Fraumeni 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)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 7