ClinVar for MedGen (Select 264172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary nonpolyposis colorectal neoplasms +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 +8 more	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)	Familial cancer of breast +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 +3 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)	not provided +3 more	GPathogenic
Select item 430594	NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)	PALB2 (E215*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 430593	NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter)	ATM, C11orf65 (W2104*)	Single nucleotide variant (nonsense +1 more)	not provided +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 and/or ovarian cancer +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 (frameshift 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)	Breast neoplasm +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 breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376573	NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	TP53 (C137R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 373830	NM_000059.4(BRCA2):c.1324T>G (p.Ser442Ala)	BRCA2 (S442A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373829	NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)	BRCA2 (Q2184*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 373828	NM_000059.4(BRCA2):c.1370A>G (p.Lys457Arg)	BRCA2 (K457R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 373827	NM_007294.4(BRCA1):c.5006C>T (p.Ala1669Val)	BRCA1 (A1669V +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 373826	NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)	BRCA1 (S1655P +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 373825	NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter)	BRCA2 (C1654*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 373824	NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)	BRCA2 (Q756*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 373823	NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs)	BRCA1 (H1775fs +4 more)	Insertion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373822	NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 371936	NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	BRCA1 (V1672fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GPathogenic/Likely pathogenic
Select item 369328	NM_000465.4(BARD1):c.135_138dup	BARD1	Duplication (3 prime UTR variant +1 more)	Breast neoplasm	GConflicting classifications of pathogenicity
Select item 334196	NM_000465.4(BARD1):c.216-15_216-14del	BARD1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334195	NM_000465.4(BARD1):c.245G>T (p.Gly82Val)	BARD1 (G82V +1 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm +2 more	GConflicting classifications of pathogenicity
Select item 334194	NM_000465.4(BARD1):c.1403C>G (p.Ala468Gly)	BARD1 (A468G +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 324356	NM_032043.3(BRIP1):c.-237dup	BRIP1	Duplication (5 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324341	NM_032043.3(BRIP1):c.*283del	BRIP1	Deletion (3 prime UTR variant)	Breast neoplasm +1 more	GLikely benign
Select item 324339	NM_032043.3(BRIP1):c.*339G>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324337	NM_032043.3(BRIP1):c.*394CT[1]	BRIP1	Microsatellite (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 324331	NM_032043.3(BRIP1):c.1048_1050del	BRIP1	Deletion (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324330	NM_032043.3(BRIP1):c.*1255AG[1]	BRIP1	Microsatellite (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324312	NM_032043.3(BRIP1):c.2811_2815dup	BRIP1	Duplication (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324311	NM_032043.3(BRIP1):c.2812_2815dup	BRIP1	Duplication (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324310	NM_032043.3(BRIP1):c.2813_2815A[6]GAAA[1]	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324307	NM_032043.3(BRIP1):c.2817_2818insGAAAGA	BRIP1	Insertion (3 prime UTR variant)	Fanconi anemia +1 more	GUncertain significance
Select item 324306	NM_032043.3(BRIP1):c.2813_2815A[4]GAAA[1]	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324305	NM_032043.3(BRIP1):c.2819_2820insAAAAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324304	NM_032043.3(BRIP1):c.2819_2820insAAAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324303	NM_032043.3(BRIP1):c.2819_2820insAAAA	BRIP1	Insertion (3 prime UTR variant)	Breast neoplasm +1 more	GUncertain significance
Select item 324300	NM_032043.3(BRIP1):c.*3114del	BRIP1	Deletion (3 prime UTR variant)	Fanconi anemia +1 more	GLikely benign
Select item 266732	NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)	BRCA2 (L997*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266349	NM_007294.4(BRCA1):c.3266del (p.Leu1089fs)	BRCA1, LOC126862571 (L1042fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 252424	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2 (Q1295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 246458	NM_024675.4(PALB2):c.155T>C (p.Val52Ala)	PALB2 (V52A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 236835	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2 (Q699*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 234002	NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)	CHEK2 (N112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 231227	NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)	PALB2 (E990*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 230921	NM_000059.4(BRCA2):c.6715G>A (p.Glu2239Lys)	BRCA2 (E2239K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 224478	NM_000059.4(BRCA2):c.10150C>G (p.Arg3384Gly)	BRCA2 (R3384G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 224477	NM_000059.4(BRCA2):c.9014G>C (p.Arg3005Thr)	BRCA2 (R3005T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 224476	NM_000059.4(BRCA2):c.9020G>A (p.Arg3007Lys)	BRCA2 (R3007K)	Single nucleotide variant (missense variant)	Breast neoplasm	GUncertain significance
Select item 224475	NM_000059.4(BRCA2):c.8500A>G (p.Thr2834Ala)	BRCA2 (T2834A)	Single nucleotide variant (missense variant)	Breast neoplasm +1 more	GUncertain significance
Select item 224474	NM_000059.4(BRCA2):c.8329A>G (p.Lys2777Glu)	BRCA2 (K2777E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 224473	NM_000059.4(BRCA2):c.7967T>C (p.Leu2656Pro)	BRCA2 (L2656P)	Single nucleotide variant (missense variant)	Breast neoplasm	GUncertain significance
Select item 224472	NM_000059.4(BRCA2):c.7672G>C (p.Glu2558Gln)	BRCA2 (E2558Q)	Single nucleotide variant (missense variant)	Breast neoplasm	GUncertain significance
Select item 224471	NM_000059.4(BRCA2):c.7509C>T (p.Val2503=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 224470	NM_000059.4(BRCA2):c.7545A>G (p.Thr2515=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 224469	NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met)	BRCA2 (I1516M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 224468	NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly)	BRCA2 (C1159G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 224467	NM_000059.4(BRCA2):c.2136G>T (p.Leu712=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 224466	NM_000059.4(BRCA2):c.6235G>T (p.Val2079Leu)	BRCA2 (V2079L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 224465	NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)	BRCA2 (L1829F)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 224464	NM_000059.4(BRCA2):c.6256A>G (p.Ile2086Val)	BRCA2 (I2086V)	Single nucleotide variant (missense variant)	Breast neoplasm +1 more	GConflicting classifications of pathogenicity
Select item 224463	NM_000059.4(BRCA2):c.3052A>C (p.Lys1018Gln)	BRCA2 (K1018Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 224462	NM_000059.4(BRCA2):c.6598T>C (p.Phe2200Leu)	BRCA2 (F2200L)	Single nucleotide variant (missense variant)	Breast neoplasm +1 more	GConflicting classifications of pathogenicity
Select item 224461	NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg)	BRCA2 (Q1782R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 224460	NM_000059.4(BRCA2):c.3473A>G (p.Glu1158Gly)	BRCA2 (E1158G)	Single nucleotide variant (missense variant)	Breast neoplasm +1 more	GConflicting classifications of pathogenicity
Select item 224459	NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)	BRCA2 (S504C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 224458	NM_000059.4(BRCA2):c.1786G>A (p.Asp596Asn)	BRCA2 (D596N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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