"Counsyl"[submitter] AND "BRCA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132777	NM_007294.4(BRCA1):c.*1287C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 371821	NM_007294.4(BRCA1):c.*1286C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GLikely benign
Select item 548794	NM_007294.4(BRCA1):c.*800T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 132778	NM_007294.4(BRCA1):c.*781C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 323415	NM_007294.4(BRCA1):c.*743G>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 125873	NM_007294.4(BRCA1):c.*36C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55634	NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)	BRCA1 (P1859R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 186496	NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	BRCA1 (I1858T +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 37682	NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)	BRCA1	Deletion (inframe_indel +3 more)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 183951	NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu)	BRCA1 (I1858L +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55628	NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)	BRCA1 (Y1853* +3 more)	Duplication (frameshift variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 184500	NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55620	NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)	BRCA1 (Q1846* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55615	NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)	BRCA1 (L1844R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 91656	NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	BRCA1 (L1839S +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37679	NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	BRCA1 (W1837R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55604	NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)	BRCA1 (R1835Q +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55589	NM_007294.4(BRCA1):c.5468-10C>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 372004	NM_007294.4(BRCA1):c.5467+22G>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 37673	NM_007294.4(BRCA1):c.5467+1G>A	BRCA1	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
Select item 55581	NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)	BRCA1 (W1815* +90 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55580	NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1 (W1815* +80 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 372068	NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)	BRCA1 (A1767fs +4 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55577	NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	BRCA1 (Q1811* +90 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 185996	NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)	BRCA1 (V1810A +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182098	NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)	BRCA1 (P676S +9 more)	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 125847	NM_007294.4(BRCA1):c.5407-21C>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 371817	NM_007294.4(BRCA1):c.5407-25T>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 125839	NM_007294.4(BRCA1):c.5406+53A>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55561	NM_007294.4(BRCA1):c.5406+33A>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 372075	NM_007294.4(BRCA1):c.5406+24_5406+27del	BRCA1	Microsatellite (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 125843	NM_007294.4(BRCA1):c.5406+8T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 240821	NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe)	BRCA1 (L1795F +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55553	NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)	BRCA1 (A1789S +79 more)	Single nucleotide variant (intron variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 37660	NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)	BRCA1 (G1788V +79 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 409303	NM_007294.4(BRCA1):c.5350G>A (p.Val1784Ile)	BRCA1 (V1784I +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 55545	NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)	BRCA1 (M1783L +79 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37658	NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)	BRCA1 (W1782* +79 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 96949	NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)	BRCA1 (L1780R +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186289	NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 55539	NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)	BRCA1 (D1778G +79 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 55533	NM_007294.4(BRCA1):c.5333-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 240820	NM_007294.4(BRCA1):c.5332+3A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55528	NM_007294.4(BRCA1):c.5332+1G>C	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 185660	NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 91647	NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)	BRCA1 (P1776L +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 17694	NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	BRCA1 (M1775R +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55521	NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)	BRCA1 (T1773S +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55515	NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 371864	NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)	BRCA1 (Y1769* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GPathogenic/Likely pathogenic
Select item 55513	NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)	BRCA1 (Y1769C +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182097	NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55510	NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	BRCA1 (L1764P +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 91646	NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met)	BRCA1 (R1762M +79 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 55505	NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)	BRCA1 (F1761S +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 91645	NM_007294.4(BRCA1):c.5278-14C>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 379110	NM_007294.4(BRCA1):c.5278-20C>T	BRCA1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 371866	NM_007294.4(BRCA1):c.5278-22C>T	BRCA1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 37654	NM_007294.4(BRCA1):c.5277+1G>A	BRCA1	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 462666	NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)	BRCA1 (E1754Q +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55481	NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)	BRCA1 (R1751Q +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55480	NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1 (R1751* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37648	NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	BRCA1 (V1736A +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 548855	NM_007294.4(BRCA1):c.5194-10T>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 125803	NM_007294.4(BRCA1):c.5194-18G>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 188418	NM_007294.4(BRCA1):c.5193+22C>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55447	NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)	BRCA1 (N1730S +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 182166	NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)	BRCA1 (L1729Q +79 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 91640	NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)	BRCA1 (L1682fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37644	NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	BRCA1 (R1747fs +3 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37645	NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)	BRCA1 (K1727* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 136552	NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55441	NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	BRCA1 (S1722F +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 184120	NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
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 55431	NM_007294.4(BRCA1):c.5153-2del	BRCA1	Deletion (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 125783	NM_007294.4(BRCA1):c.5153-13A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125786	NM_007294.4(BRCA1):c.5153-26A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55428	NM_007294.4(BRCA1):c.5152+66G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 132704	NM_007294.4(BRCA1):c.5152+20T>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 37641	NM_007294.4(BRCA1):c.5152+10A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 125777	NM_007294.4(BRCA1):c.5152+6T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 55422	NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)	BRCA1 (F1717fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55419	NM_007294.4(BRCA1):c.5148T>G (p.Tyr1716Ter)	BRCA1 (Y1716* +78 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55416	NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)	BRCA1 (S1715N +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55412	NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)	BRCA1 (V1713A +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55411	NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)	BRCA1	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55407	NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)	BRCA1 (A1708E +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55406	NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	BRCA1 (G1706A +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55403	NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)	BRCA1 (Y1703* +78 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37636	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1 (R1699Q +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55395	NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55377	NM_007294.4(BRCA1):c.5075-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 125761	NM_007294.4(BRCA1):c.5075-9A>T	BRCA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 371973	NM_007294.4(BRCA1):c.5074+23A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 136088	NM_007294.4(BRCA1):c.5074+14C>T	BRCA1	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 91636	NM_007294.4(BRCA1):c.5074+6C>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37633	NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)	BRCA1 (D1692H +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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