ClinVar (all) for Orgtrack (Select 508740) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692403	NM_007294.4(BRCA1):c.5468-364_*630del	BRCA1	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692402	NC_000017.10:g.41190710_41208488del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692401	NC_000017.10:g.41189111_41217097del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692400	NC_000017.10:g.41184601_41203860del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692399	NC_000017.10:g.41176290_41198621delinsCACCTCCACCTCCCGGGGTCAAGCGATTCTCCTGCCTCAGCCTCCCSAGTAGCTGGGACTACGGGCACGCGCCMCCMCGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATG	BRCA1, RND2	Indel	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692398	NC_000013.10:g.32893302_32893303insAlu	BRCA2	Insertion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692397	NM_001408458.1(BRCA1):c.-61-15035_-61-7680dup	BRCA1	Duplication (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692396	NC_000017.10:g.41272204_41309137del	BRCA1, NBR2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692395	NC_000017.10:g.41263509_41273671del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692394	NC_000017.10:g.41258618_41306113del	BRCA1, NBR2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692393	NM_007294.4(BRCA1):c.4676-1528_4986+792del	BRCA1	Deletion (splice acceptor variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692392	NC_000017.10:g.41217612_41400090del	NBR2, BRCA1 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692391	NM_007294.4(BRCA1):c.5075-1461_5194-2073dup	BRCA1	Duplication (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692390	NM_000059.4(BRCA2):c.67+57_316+123delinsCAC	BRCA2	Indel (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2692292	NM_000059.4(BRCA2):c.1733G>C (p.Gly578Ala)	BRCA2 (G578A)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692291	NM_000059.4(BRCA2):c.1542G>C (p.Glu514Asp)	BRCA2 (E514D)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692290	NM_007294.4(BRCA1):c.30del (p.Val11fs)	BRCA1 (V11fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692289	NM_007294.4(BRCA1):c.364G>T (p.Val122Phe)	BRCA1 (V119F +5 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692288	NM_007294.4(BRCA1):c.548-11A>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692287	NM_007294.4(BRCA1):c.638G>T (p.Arg213Met)	BRCA1 (R142M +11 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692286	NM_007294.4(BRCA1):c.848_850delinsAAG (p.Leu283_Gln284delinsTer)	BRCA1 (L283*)	Indel (intron variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692285	NM_007294.4(BRCA1):c.915del (p.Phe304_Cys305insTer)	BRCA1	Deletion (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692284	NM_007294.4(BRCA1):c.1707_1716del (p.Pro570fs)	BRCA1 (P274fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692283	NM_007294.4(BRCA1):c.2120G>C (p.Gly707Ala)	BRCA1 (G411A +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692282	NM_007294.4(BRCA1):c.2184del (p.Glu729fs)	BRCA1 (E682fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692281	NM_007294.4(BRCA1):c.2403del (p.Cys801fs)	BRCA1 (C505fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692280	NM_007294.4(BRCA1):c.2453del (p.Cys818fs)	BRCA1 (C522fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692279	NM_007294.4(BRCA1):c.2492A>G (p.Tyr831Cys)	BRCA1 (Y535C +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692278	NM_007294.4(BRCA1):c.2903C>A (p.Pro968Gln)	BRCA1 (P672Q +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 2692277	NM_007294.4(BRCA1):c.3353dup (p.Thr1119fs)	LOC126862571, BRCA1 (T1007fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692276	NM_000059.4(BRCA2):c.793+16A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692275	NM_007294.4(BRCA1):c.3538A>C (p.Ser1180Arg)	BRCA1, LOC126862571 (S1012R +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692274	NM_007294.4(BRCA1):c.3549del (p.Gly1184fs)	BRCA1, LOC126862571 (G1016fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692273	NM_007294.4(BRCA1):c.3789_3790delinsTT (p.Leu1263_Lys1264delinsPheTer)	BRCA1, LOC126862571	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692272	NM_007294.4(BRCA1):c.4358-2717G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692271	NM_007294.4(BRCA1):c.4410del (p.Gly1471fs)	BRCA1 (G1174fs +75 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692270	NM_007294.4(BRCA1):c.4567_4568dup (p.Ser1524fs)	BRCA1 (S1497fs +75 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692269	NM_000059.4(BRCA2):c.632-19A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692268	NM_007294.4(BRCA1):c.5153-40T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 2692267	NM_007294.4(BRCA1):c.5157del (p.Thr1720fs)	BRCA1 (T1423fs +79 more)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692266	NM_007294.4(BRCA1):c.5193+39_5193+42del	BRCA1	Microsatellite (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 2692265	NM_007294.4(BRCA1):c.5332+32C>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 2692264	NM_007294.4(BRCA1):c.5465del (p.His1822fs)	BRCA1 (C1750fs +90 more)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692263	NM_000059.4(BRCA2):c.631+16G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692262	NM_000059.4(BRCA2):c.10165T>G (p.Ser3389Ala)	BRCA2 (S1250A +4 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692261	NM_000059.4(BRCA2):c.10059G>T (p.Leu3353Phe)	BRCA2 (L1214F +4 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692260	NM_000059.4(BRCA2):c.9814G>T (p.Asp3272Tyr)	BRCA2 (D1133Y +4 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692259	NM_000059.4(BRCA2):c.9648+38A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692258	NM_000059.4(BRCA2):c.9118-27G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692257	NM_000059.4(BRCA2):c.8729dup (p.Asn2910fs)	BRCA2 (N1266fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692256	NM_000059.4(BRCA2):c.8681_8684del (p.Gln2894fs)	BRCA2 (Q1250fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692255	NM_000059.4(BRCA2):c.8633A>T (p.Glu2878Val)	BRCA2 (E1234V +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692254	NM_000059.4(BRCA2):c.8633-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2692253	NM_000059.4(BRCA2):c.8387C>T (p.Pro2796Leu)	BRCA2 (P1152L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2692252	NM_000059.4(BRCA2):c.8332-71T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692251	NM_000059.4(BRCA2):c.7978T>A (p.Tyr2660Asn)	BRCA2 (Y1016N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2692250	NM_000059.4(BRCA2):c.7834C>T (p.Pro2612Ser)	BRCA2 (P2580S +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692249	NM_000059.4(BRCA2):c.7757G>C (p.Trp2586Ser)	BRCA2 (W2554S +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692248	NM_000059.4(BRCA2):c.7636dup (p.Ser2546fs)	BRCA2 (S2514fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692247	NM_000059.4(BRCA2):c.7435+21T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692246	NM_000059.4(BRCA2):c.425+7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692245	NM_000059.4(BRCA2):c.7340A>C (p.Asn2447Thr)	BRCA2 (N2415T +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692244	NM_000059.4(BRCA2):c.7133C>A (p.Ser2378Ter)	BRCA2 (S2346* +3 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692243	NM_000059.4(BRCA2):c.377A>T (p.Gln126Leu)	BRCA2 (Q126L +1 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692242	NM_000059.4(BRCA2):c.6938-43T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692241	NM_000059.4(BRCA2):c.6938-45del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692240	NM_000059.4(BRCA2):c.6937+67A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 2692239	NM_000059.4(BRCA2):c.6654_6677del (p.Asp2218_Thr2225del)	BRCA2	Deletion (inframe deletion +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692238	NM_000059.4(BRCA2):c.6018T>G (p.Ser2006Arg)	BRCA2 (S2006R)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692237	NM_000059.4(BRCA2):c.5400C>A (p.Tyr1800Ter)	BRCA2 (Y1800*)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692236	NM_000059.4(BRCA2):c.4680C>A (p.Ser1560Arg)	BRCA2 (S1560R)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2692235	NM_000059.4(BRCA2):c.4171G>T (p.Glu1391Ter)	BRCA2 (E1391*)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2692234	NM_000059.4(BRCA2):c.3512dup (p.Ser1172fs)	BRCA2 (S1172fs)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2578326	NM_000059.4(BRCA2):c.7870T>G (p.Tyr2624Asp)	BRCA2 (Y2592D +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2004169	NM_000059.4(BRCA2):c.4084C>T (p.His1362Tyr)	BRCA2 (H1362Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1801606	NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)	BRCA2 (C2117fs)	Deletion (frameshift variant)	Gastric cancer +1 more	GPathogenic
Select item 1757243	NM_000059.4(BRCA2):c.7118G>A (p.Ser2373Asn)	BRCA2 (S2373N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1753975	NM_000059.4(BRCA2):c.6514T>C (p.Ser2172Pro)	BRCA2 (S2172P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1740873	NM_000059.4(BRCA2):c.447A>G (p.Thr149=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1737848	NM_000059.4(BRCA2):c.10142G>A (p.Arg3381Lys)	BRCA2 (R1737K +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1713247	NM_007294.4(BRCA1):c.2982dup (p.Lys995Ter)	BRCA1 (K948* +20 more)	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1713246	NM_007294.4(BRCA1):c.2808_2809del (p.Asp936fs)	BRCA1 (D889fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713245	NM_007294.4(BRCA1):c.1689_1690delinsCCCC (p.Gln563fs)	BRCA1 (Q516fs +20 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713244	NC_000017.10:g.41230031_41253797del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713243	NM_007294.4(BRCA1):c.441+249_594-535del	BRCA1	Deletion (splice acceptor variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713242	NC_000017.10:g.41254111_41264129del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713241	NC_000017.10:g.41221355_41380248del	NBR1, NBR2 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713240	NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)	BARD1 (E164* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1713239	NC_000002.11:g.215591300_215623516del	BARD1	Deletion	Familial cancer of breast	GPathogenic
Select item 1713238	NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)	ATM, C11orf65 (E2990*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 1713237	NC_000011.9:g.108108886_108205398del	ATM	Deletion	Familial cancer of breast	GPathogenic
Select item 1713236	NM_000051.4(ATM):c.8720del (p.Pro2907fs)	ATM, C11orf65 (P2907fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1713235	NM_000546.6(TP53):c.715_718dup (p.Ser240fs)	TP53 (S108fs +3 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1713234	NC_000017.10:g.7574126_7586609del	TP53	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1713233	NC_000017.10:g.7584834_7594887del	TP53, WRAP53	Deletion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1713232	NM_002878.4(RAD51D):c.896_*505del597insT (p.Ser299fs)	RAD51D, RAD51L3-RFFL (S187fs +2 more)	Indel (frameshift variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 1713231	NC_000017.10:g.56786681_56797331del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 1713230	NC_000017.10:g.56782798_56819433del	RAD51C	Deletion	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 1713229	NM_024675.4(PALB2):c.3351-2A>T	PALB2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1713228	NM_024675.4(PALB2):c.[520A>T;792del]	PALB2 (K154* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic

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