ClinVar for MedGen (Select 1632414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810321	GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3	BRCA1	Copy number gain	Hereditary breast ovarian cancer syndrome +3 more	Gnot provided
Select item 1053289	NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)	BRCA1, LOC126862571 (G1287D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1026850	NM_007294.4(BRCA1):c.442-2A>G	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GUncertain significance
Select item 825665	NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)	BRCA1 (E1734K +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 628391	NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)	BRCA1 (K168E +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 548826	NM_007294.4(BRCA1):c.869del (p.Leu290fs)	BRCA1 (L290fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 531444	NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)	BRCA1 (H1686Y +77 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia, complementation group S +5 more	GConflicting classifications of pathogenicity
Select item 531214	NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)	BRCA1 (V1035A +20 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia, complementation group S +5 more	GConflicting classifications of pathogenicity
Select item 496362	NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)	BRCA1 (S1027T +20 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 495221	NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)	BRCA1 (C903* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 479243	NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)	BRCA1 (C39*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 433716	NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)	BRCA1 (Y1552H +75 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 419382	NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)	BRCA1 (S308G +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 409361	NM_007294.4(BRCA1):c.744del (p.Thr249fs)	BRCA1 (T202fs +1 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 409326	NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)	BRCA1 (T176M +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 371791	NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del)	BRCA1, LOC126862571 (E1258del +21 more)	Microsatellite (inframe_deletion +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GUncertain significance
Select item 267568	NM_007294.4(BRCA1):c.4987-5T>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 266592	NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)	BRCA1 (K309* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 252887	NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 252863	NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)	BRCA1 (S423fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 252399	NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)	BRCA1 (P1659fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 246134	NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)	BRCA1 (S1743fs +3 more)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 240792	NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)	BRCA1, LOC126862571 (Q1135E +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 233854	NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)	BRCA1 (P1445T +58 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 233033	NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)	BRCA1 (R629I +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 232915	NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)	BRCA1 (Y1703C +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231215	NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)	BRCA1 (E554D +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 230920	NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)	BRCA1 (H888P +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 230862	NM_007294.4(BRCA1):c.122A>T (p.His41Leu)	BRCA1 (H41L)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 230624	NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)	BRCA1 (W1712* +78 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 230150	NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)	BRCA1 (C328R +20 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 225705	NM_007294.4(BRCA1):c.441+36_441+49del	BRCA1	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 224562	NM_007294.4(BRCA1):c.301+6T>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 220258	NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)	BRCA1 (D96G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 209575	NM_007294.4(BRCA1):c.-19-361C>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 209105	NM_007294.4(BRCA1):c.594_597delTGTG	BRCA1	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 194244	NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)	BRCA1 (E1462K +75 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 186252	NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)	LOC126862571, BRCA1 (S1253C +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 186016	NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)	BRCA1 (W1508* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 185698	NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)	BRCA1 (T582M +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 185428	NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)	BRCA1 (R1555K +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 184875	NM_007294.4(BRCA1):c.20G>A (p.Arg7His)	BRCA1 (R7H)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 184066	NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 141804	NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)	BRCA1 (I1824V +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 141465	NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)	BRCA1 (M1411V +58 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 125817	NM_007294.4(BRCA1):c.5277+78G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125703	NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125686	NM_007294.4(BRCA1):c.4185+11TG[5]	BRCA1	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 125554	NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125536	NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125471	NM_007294.4(BRCA1):c.-19-3A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 91649	NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)	BRCA1 (L1786P +79 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +5 more	GLikely pathogenic
Select item 91620	NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)	BRCA1, LOC126862571 (E1352* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 89059	NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)	BRCA1, LOC126862571 (E1185D +21 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia, complementation group S +7 more	GConflicting classifications of pathogenicity
Select item 55739	NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)	BRCA1 (Q284R +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 55726	NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)	BRCA1 (G275D +19 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55723	NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)	BRCA1 (T229fs +19 more)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55667	NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)	BRCA1 (C24fs)	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 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 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 55533	NM_007294.4(BRCA1):c.5333-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +5 more	GPathogenic/Likely pathogenic
Select item 55483	NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)	BRCA1 (A1752P +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
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 55451	NM_007294.4(BRCA1):c.5194-12G>A	BRCA1	Single nucleotide variant (intron variant)	BRCA1-related cancer predisposition	GPathogenicFDA Recognized database
Select item 55441	NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	BRCA1 (S1722F +79 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 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 55396	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1 (R1699W +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55375	NM_007294.4(BRCA1):c.5074+3A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 55370	NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)	BRCA1 (K1690Q +77 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 55302	NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)	BRCA1 (A1615T +77 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 55262	NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)	BRCA1 (L1564P +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55256	NM_007294.4(BRCA1):c.4675+1G>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55251	NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)	BRCA1 (T1550I +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +8 more	GUncertain significance
Select item 55243	NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)	BRCA1 (S1495fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55221	NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1 (W1508* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55213	NM_007294.4(BRCA1):c.4485-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +6 more	GPathogenic
Select item 55210	NM_007294.4(BRCA1):c.4484+14A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55082	NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)	BRCA1, LOC126862571 (G1348fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55072	NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)	BRCA1 (M1I)	Single nucleotide variant (missense variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55039	NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)	BRCA1, LOC126862571 (S1298* +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54970	NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)	BRCA1, LOC126862571 (N1236K +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54953	NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)	BRCA1, LOC126862571 (S1217P +21 more)	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 54949	NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	BRCA1, LOC126862571 (E1214* +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54929	NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)	BRCA1, LOC126862571 (Q1200* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54878	NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)	BRCA1, LOC126862571 (A1142P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 54769	NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)	BRCA1 (E1033* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54729	NM_007294.4(BRCA1):c.2952del (p.Ile986fs)	BRCA1 (I939fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54702	NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)	BRCA1 (S956fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54657	NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	BRCA1 (E908* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54612	NM_007294.4(BRCA1):c.2594del (p.Lys865fs)	BRCA1 (K818fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54604	NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	BRCA1 (Y856H +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54565	NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)	BRCA1 (Q81* +4 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54527	NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)	BRCA1 (S770* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54522	NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)	BRCA1 (R762S +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54471	NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)	BRCA1 (R71K +1 more)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +5 more	GPathogenic
Select item 54447	NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)	BRCA1 (P684S +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 54431	NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)	BRCA1 (D67Y +1 more)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54334	NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)	BRCA1 (E575K +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity

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