ClinVar for MedGen (Select 651) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 2014

<< First< Prev

Page of 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063808	NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup	CDH1	Duplication	Malignant tumor of breast	GLikely pathogenic
Select item 3063792	NM_032043.3(BRIP1):c.1781T>G (p.Leu594Ter)	BRIP1 (L594*)	Single nucleotide variant (nonsense)	Malignant tumor of breast	GPathogenic
Select item 3063719	NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del	PALB2	Deletion	Malignant tumor of breast	GPathogenic
Select item 2691444	NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del	PALB2	Deletion	Malignant tumor of breast	GPathogenic
Select item 2690994	NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)	BRCA2 (E2398* +3 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of breast	GLikely pathogenic
Select item 2664475	NM_004936.4(CDKN2B):c.*2763G>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664474	NM_004936.4(CDKN2B):c.*1346dup	CDKN2B, CDKN2B-AS1	Duplication (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664473	NM_004936.4(CDKN2B):c.845_846insCA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664472	NM_004936.4(CDKN2B):c.845_846insCACA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2584204	NM_000465.4(BARD1):c.623del (p.Lys208fs)	BARD1 (K189fs +1 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 2581332	NC_000002.11:g.(?_215590369)_(215617280_215632205)del	BARD1	Deletion	Malignant tumor of breast	GPathogenic
Select item 2581270	NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)	ATM (Q501fs)	Deletion (frameshift variant)	Malignant tumor of breast	GPathogenic
Select item 2577286	NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)	ATM (W484fs)	Deletion (frameshift variant)	Malignant tumor of breast	GPathogenic
Select item 2577040	NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del	CDH1	Deletion	Malignant tumor of breast	GPathogenic
Select item 2505479	NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)	PTEN (E216G +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 2503486	NM_000546.6(TP53):c.839_842dup (p.Asp281fs)	TP53 (D122fs +3 more)	Microsatellite (frameshift variant +1 more)	Malignant tumor of breast +1 more	GPathogenic
Select item 2501252	NM_024675.4(PALB2):c.2832_2834+4del	PALB2	Deletion (splice donor variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2445936	NM_000051.4(ATM):c.2910_2921+10del	ATM	Deletion (splice donor variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2133317	NM_005732.4(RAD50):c.656A>G (p.Lys219Arg)	RAD50 (K219R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1878334	NM_000051.4(ATM):c.2091del (p.Leu697fs)	ATM (L697fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1799633	NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)	ABRAXAS1 (R260Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723381	NM_032043.3(BRIP1):c.2487del (p.Gly830fs)	BRIP1 (G830fs)	Deletion (frameshift variant)	Malignant tumor of breast	GLikely pathogenic
Select item 1705243	NC_000016.9:g.(?_23614482)_(23619334_23625324)del	PALB2	Deletion	Malignant tumor of breast	GPathogenic
Select item 1705175	NC_000016.9:g.(?_23614482)_(23614991_23619184)del	PALB2	Deletion	Malignant tumor of breast	GLikely pathogenic
Select item 1698671	NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del	PALB2	Deletion	Malignant tumor of breast	GLikely pathogenic
Select item 1343500	NM_000051.4(ATM):c.845T>G (p.Leu282Ter)	ATM (L282*)	Single nucleotide variant (nonsense)	Malignant tumor of breast	GLikely pathogenic
Select item 1343490	NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del	ATM	Deletion	Malignant tumor of breast	GPathogenic
Select item 1301878	NM_000372.5(TYR):c.[1205G>A;575C>A]	TYR (S192Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 1217290	NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del	BRIP1	Deletion	Malignant tumor of breast	GLikely pathogenic
Select item 1217268	NC_000011.9:g.(108225602_108235808)_(108239827_?)del	ATM	Deletion	Malignant tumor of breast	GPathogenic
Select item 1217239	NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del	PALB2	Deletion	Malignant tumor of breast	GPathogenic
Select item 1192250	NC_000016.9:g.(?_23614482)_(23637719_23640524)del	PALB2	Deletion	Malignant tumor of breast	GPathogenic
Select item 1177516	GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1	ATM	Copy number loss	Ataxia-telangiectasia syndrome +1 more	Gnot provided
Select item 1174597	NM_000059.4(BRCA2):c.3292A>T (p.Asn1098Tyr)	BRCA2 (N1098Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1172879	NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs)	PALB2 (Q1175fs)	Indel (frameshift variant)	Malignant tumor of breast	GLikely pathogenic
Select item 1050776	NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)	LOC126862571, BRCA1 (N1028fs +20 more)	Deletion (frameshift variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1050771	NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)	NBN (A340S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1050744	NM_000051.4(ATM):c.748C>A (p.Arg250=)	ATM	Single nucleotide variant (synonymous variant)	Malignant tumor of breast	GUncertain significance
Select item 1050735	NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)	BRCA2 (G2576*)	Single nucleotide variant (nonsense)	Malignant tumor of breast	GPathogenic
Select item 1050698	NM_004360.5(CDH1):c.900C>G (p.Ile300Met)	CDH1 (I300M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 1050671	NM_007294.4(BRCA1):c.3476del (p.Ile1159fs)	BRCA1, LOC126862571 (I1112fs +21 more)	Deletion (frameshift variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1050669	NM_000059.4(BRCA2):c.1910-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1050655	NM_000059.4(BRCA2):c.7966C>G (p.Leu2656Val)	BRCA2 (L2656V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050653	NM_000059.4(BRCA2):c.5334T>A (p.Asn1778Lys)	BRCA2 (N1778K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1050644	NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)	CHEK2 (I232N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1050639	NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs)	BRCA2 (I1865fs)	Duplication (frameshift variant)	Malignant tumor of breast	GPathogenic
Select item 1050570	NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)	BRCA2 (S1341P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1050553	NM_000059.4(BRCA2):c.8827del (p.Gln2943fs)	BRCA2 (Q2943fs)	Deletion (frameshift variant)	Malignant tumor of breast	GPathogenic
Select item 1050544	NM_000535.7(PMS2):c.989-85_1144+3del	PMS2	Deletion (splice acceptor variant +2 more)	Malignant tumor of breast	GLikely pathogenic
Select item 1050542	NM_000059.4(BRCA2):c.1110A>G (p.Val370=)	BRCA2	Single nucleotide variant (synonymous variant)	Malignant tumor of breast	GUncertain significance
Select item 1050526	NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)	BRCA2 (E1308A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1050462	NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg)	POLE (C2010R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050454	NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr)	MSH6 (C124Y +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1050452	NM_000179.3(MSH6):c.-11C>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of breast	GUncertain significance
Select item 1050429	NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly)	MSH2 (D650G +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1050423	NM_000051.4(ATM):c.3746+12C>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 1050371	NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)	BRCA1 (E190* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1050360	NM_000059.4(BRCA2):c.7308C>T (p.Asn2436=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1050359	NM_000546.6(TP53):c.731del (p.Gly244fs)	TP53 (G112fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome	GPathogenic
Select item 1050317	NM_000465.4(BARD1):c.1904-12T>G	BARD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1050310	NM_024675.4(PALB2):c.2575del (p.Ser859fs)	PALB2 (S859fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1050301	NM_007294.4(BRCA1):c.3563G>T (p.Arg1188Met)	BRCA1, LOC126862571 (R1141M +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1050298	NM_002878.4(RAD51D):c.576+6C>G	RAD51D, RAD51L3-RFFL	Single nucleotide variant (intron variant)	Malignant tumor of breast	GUncertain significance
Select item 1050297	NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)	BRIP1 (F205V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1050290	NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)	BARD1 (S37R)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 1050285	NM_000251.3(MSH2):c.2165T>C (p.Val722Ala)	MSH2 (V656A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050280	NM_004360.5(CDH1):c.2440-2_*1del	CDH1	Deletion (splice acceptor variant)	Malignant tumor of breast	GPathogenic
Select item 1050253	NM_007294.4(BRCA1):c.4987-1331_5152+2del	BRCA1	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1050252	NM_000179.3(MSH6):c.442T>C (p.Leu148=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Malignant tumor of breast	GUncertain significance
Select item 1050248	NM_007194.4(CHEK2):c.1324del (p.Ser442fs)	CHEK2 (S221fs +4 more)	Deletion (frameshift variant)	Malignant tumor of breast	GPathogenic
Select item 1050237	NM_007194.4(CHEK2):c.793-110_846+2del	CHEK2	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1050223	NM_000465.4(BARD1):c.1569-1_1677+2del	BARD1	Deletion (splice acceptor variant +2 more)	Malignant tumor of breast	GPathogenic
Select item 1050218	NM_000465.4(BARD1):c.175G>C (p.Glu59Gln)	BARD1 (E59Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1050202	NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys)	BRCA2 (F11C)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 1050184	NM_006231.4(POLE):c.605C>T (p.Thr202Ile)	POLE (T202I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050145	NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer)	BRCA1	Indel (nonsense +2 more)	Malignant tumor of breast	GPathogenic
Select item 1050140	NM_007294.4(BRCA1):c.2649A>C (p.Ala883=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1050136	NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)	PMS2 (K493* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 4	GLikely pathogenic
Select item 1050049	NM_000249.4(MLH1):c.772T>C (p.Phe258Leu)	MLH1 (F160L +3 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of breast	GUncertain significance
Select item 1050037	NM_000059.4(BRCA2):c.7008-1_7435+372del	BRCA2	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GLikely pathogenic
Select item 1050026	NM_007294.4(BRCA1):c.5194-119_5277+3del	BRCA1	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1050013	NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys)	PALB2 (E1011K)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 1050008	NM_000136.3(FANCC):c.997-9C>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1049959	NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)	BRCA2 (K434Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1049950	NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)	BRCA2 (L2890V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1049940	NM_000051.4(ATM):c.3403-1_3577-680del	ATM	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1049912	NM_007294.4(BRCA1):c.5194-836_5277+3del	BRCA1	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1049895	NM_007294.4(BRCA1):c.2365del (p.Ser789fs)	BRCA1 (S742fs +20 more)	Deletion (frameshift variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1049861	NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr)	MSH2	Indel (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1049828	NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs)	BRCA1 (T570fs +20 more)	Deletion (frameshift variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1049783	NM_000535.7(PMS2):c.1785A>G (p.Val595=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 1049778	NM_000038.6(APC):c.-2_135+1824del	APC	Deletion (splice donor variant +2 more)	Malignant tumor of breast +1 more	GPathogenic
Select item 1049766	NM_000251.3(MSH2):c.836T>C (p.Leu279Pro)	MSH2 (L213P +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1049755	NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)	CHEK2 (R272fs +4 more)	Deletion (frameshift variant)	Malignant tumor of breast	GLikely pathogenic
Select item 1049738	NM_000136.3(FANCC):c.1155-14T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1049719	NM_007294.4(BRCA1):c.851del (p.Gln284fs)	BRCA1 (Q237fs +19 more)	Deletion (frameshift variant +2 more)	Malignant tumor of breast	GPathogenic
Select item 1049655	NM_000465.4(BARD1):c.1904-502_*2del	BARD1	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 1049652	NM_004360.5(CDH1):c.1437T>C (p.Asp479=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Malignant tumor of breast	GLikely benign
Select item 1049603	NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG	BARD1	Indel (intron variant)	Malignant tumor of breast	GUncertain significance
Select item 1049602	NM_000059.4(BRCA2):c.4764C>T (p.Ala1588=)	BRCA2	Single nucleotide variant (synonymous variant)	Malignant tumor of breast	GUncertain significance

<< First< Prev

Page of 21