"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126862571 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 388810	NM_007294.4(BRCA1):c.4096+18T>C	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 628511	NM_007294.4(BRCA1):c.4096+15T>C	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 927378	NM_007294.4(BRCA1):c.3991_4096+10delinsAT	LOC126862571, BRCA1	Indel (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37566	NM_007294.4(BRCA1):c.4096+3A>G	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 37565	NM_007294.4(BRCA1):c.4096+1G>A	BRCA1, LOC126862571	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 96925	NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser)	BRCA1, LOC126862571 (G1366S +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 950528	NM_007294.4(BRCA1):c.4091A>C (p.Asn1364Thr)	BRCA1, LOC126862571 (N1317T +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91622	NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu)	BRCA1, LOC126862571 (S1363L +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 575669	NM_007294.4(BRCA1):c.4084G>A (p.Asp1362Asn)	BRCA1, LOC126862571 (D1362N +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37564	NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)	BRCA1, LOC126862571 (M1361I +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 55099	NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)	BRCA1, LOC126862571 (M1361L +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 801073	NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)	LOC126862571, BRCA1 (Q1312K +21 more)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37562	NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)	BRCA1, LOC126862571 (E1358G +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 55096	NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys)	BRCA1, LOC126862571 (E1358K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 489720	NM_007294.4(BRCA1):c.4071A>T (p.Glu1357Asp)	BRCA1, LOC126862571 (E1357D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 17674	NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	BRCA1, LOC126862571 (N1355fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55093	NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)	BRCA1, LOC126862571 (N1355del +21 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 629008	NM_007294.4(BRCA1):c.4064A>G (p.Asn1355Ser)	BRCA1, LOC126862571 (N1355S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 655565	NM_007294.4(BRCA1):c.4057G>A (p.Glu1353Lys)	BRCA1, LOC126862571 (E1306K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 481150	NM_007294.4(BRCA1):c.4054G>C (p.Glu1352Gln)	BRCA1, LOC126862571 (E1352Q +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55089	NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)	BRCA1, LOC126862571 (E1352K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 427308	NM_007294.4(BRCA1):c.4050C>T (p.Gly1350=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 231563	NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)	BRCA1, LOC126862571 (G1350C +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 531491	NM_007294.4(BRCA1):c.4047G>T (p.Thr1349=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 219948	NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 462629	NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)	BRCA1, LOC126862571 (T1349R +21 more)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 55085	NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)	BRCA1, LOC126862571 (T1349M +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55084	NM_007294.4(BRCA1):c.4045A>C (p.Thr1349Pro)	BRCA1, LOC126862571 (T1349P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 266433	NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)	BRCA1, LOC126862571 (G1348* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 55081	NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys)	BRCA1, LOC126862571 (R1347K +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 531295	NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter)	BRCA1, LOC126862571 (R1347* +21 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 41821	NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	BRCA1, LOC126862571 (R1347G +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55079	NM_007294.4(BRCA1):c.4033GAA[1] (p.Glu1346del)	BRCA1, LOC126862571 (E1346del +21 more)	Microsatellite (inframe_indel +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GUncertain significance
Select item 2774841	NM_007294.4(BRCA1):c.4036G>T (p.Glu1346Ter)	BRCA1, LOC126862571 (E1050* +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 37561	NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)	BRCA1, LOC126862571 (E1346K +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 37560	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1, LOC126862571 (E1299fs +21 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 824526	NM_007294.4(BRCA1):c.4034A>T (p.Glu1345Val)	BRCA1, LOC126862571 (E1298V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55078	NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)	BRCA1, LOC126862571 (D1344del +21 more)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 55077	NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)	BRCA1, LOC126862571 (D1344G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 479227	NM_007294.4(BRCA1):c.4027G>T (p.Asp1343Tyr)	BRCA1, LOC126862571 (D1343Y +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 427262	NM_007294.4(BRCA1):c.4026A>C (p.Ser1342=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 923630	NM_007294.4(BRCA1):c.4022delinsGGACC (p.Val1341fs)	BRCA1, LOC126862571 (V1294fs +21 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 479257	NM_007294.4(BRCA1):c.4021G>A (p.Val1341Ile)	BRCA1, LOC126862571 (V1341I +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184728	NM_007294.4(BRCA1):c.4018T>C (p.Leu1340=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 37559	NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)	LOC126862571, BRCA1 (E1339* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 928040	NM_007294.4(BRCA1):c.4011C>T (p.Asp1337=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 489719	NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys)	BRCA1, LOC126862571 (S1336C +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 427272	NM_007294.4(BRCA1):c.4002T>C (p.Gly1334=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 431258	NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala)	BRCA1, LOC126862571 (V1333A +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 182156	NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)	BRCA1, LOC126862571 (G1332V +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 231968	NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys)	BRCA1, LOC126862571 (E1329K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182079	NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg)	BRCA1, LOC126862571 (Q1327R +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 824454	NM_007294.4(BRCA1):c.3979C>G (p.Gln1327Glu)	BRCA1, LOC126862571 (Q1280E +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 142109	NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)	LOC126862571, BRCA1 (M1324L +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 233442	NM_007294.4(BRCA1):c.3969A>T (p.Gln1323His)	BRCA1, LOC126862571 (Q1323H +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55062	NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)	BRCA1, LOC126862571 (Q1323* +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 481448	NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)	BRCA1, LOC126862571 (K1322R +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2774842	NM_007294.4(BRCA1):c.3963C>T (p.Ser1321=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 55058	NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)	BRCA1, LOC126862571 (I1318V +21 more)	Single nucleotide variant (missense variant +1 more)	BRCA1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 96921	NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)	BRCA1, LOC126862571 (P1315R +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 479232	NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val)	LOC126862571, BRCA1 (D1314V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1172083	NM_007294.4(BRCA1):c.3939G>A (p.Gln1313=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 440470	NM_007294.4(BRCA1):c.3938A>G (p.Gln1313Arg)	BRCA1, LOC126862571 (Q1313R +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37556	NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)	BRCA1, LOC126862571 (Q1313* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 427364	NM_007294.4(BRCA1):c.3936C>T (p.Thr1312=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55054	NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)	BRCA1, LOC126862571 (N1311fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 491065	NM_007294.4(BRCA1):c.3930A>C (p.Thr1310=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 409324	NM_007294.4(BRCA1):c.3929C>T (p.Thr1310Ile)	BRCA1, LOC126862571 (T1310I +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 55053	NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)	BRCA1, LOC126862571 (T1310K +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 923335	NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala)	BRCA1, LOC126862571 (T1310A +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 919379	NM_007294.4(BRCA1):c.3925A>C (p.Asn1309His)	BRCA1, LOC126862571 (N1262H +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 55049	NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	BRCA1, LOC126862571 (L1306fs +21 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 96920	NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val)	LOC126862571, BRCA1 (D1305V +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 489718	NM_007294.4(BRCA1):c.3913G>C (p.Asp1305His)	BRCA1, LOC126862571 (D1305H +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 2774844	NM_007294.4(BRCA1):c.3910G>C (p.Glu1304Gln)	BRCA1, LOC126862571 (E1136Q +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 630705	NM_007294.4(BRCA1):c.3906A>T (p.Glu1302Asp)	BRCA1, LOC126862571 (E1302D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 2774845	NM_007294.4(BRCA1):c.3905A>G (p.Glu1302Gly)	LOC126862571, BRCA1 (E1191G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 55045	NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)	BRCA1, LOC126862571 (E1302* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55044	NM_007294.4(BRCA1):c.3903T>A (p.Ser1301Arg)	LOC126862571, BRCA1 (S1301R +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375449	NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)	BRCA1, LOC126862571 (S1301N +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 441430	NM_007294.4(BRCA1):c.3901A>T (p.Ser1301Cys)	BRCA1, LOC126862571 (S1301C +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 379171	NM_007294.4(BRCA1):c.3897G>A (p.Gln1299=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GLikely benign
Select item 55039	NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)	BRCA1, LOC126862571 (S1298* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 481466	NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)	BRCA1, LOC126862571 (S1297T +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37555	NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro)	BRCA1, LOC126862571 (A1293P +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 96918	NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr)	BRCA1, LOC126862571 (K1290T +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91617	NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)	BRCA1, LOC126862571 (K1290E +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37553	NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)	BRCA1, LOC126862571 (S1239fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 925337	NM_007294.4(BRCA1):c.3857G>T (p.Ser1286Ile)	BRCA1, LOC126862571 (S1286I +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 187761	NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)	BRCA1, LOC126862571 (S1286T +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 631153	NM_007294.4(BRCA1):c.3849T>C (p.His1283=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 55028	NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)	BRCA1, LOC126862571 (H1283R +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 479252	NM_007294.4(BRCA1):c.3846A>G (p.Glu1282=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GLikely benign
Select item 55027	NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)	BRCA1, LOC126862571 (E1282V +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55021	NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)	BRCA1, LOC126862571	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55025	NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)	BRCA1, LOC126862571 (Q1281P +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 55022	NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)	BRCA1, LOC126862571 (Q1281* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 631163	NM_007294.4(BRCA1):c.3838T>C (p.Ser1280Pro)	BRCA1, LOC126862571 (S1280P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 629161	NM_007294.4(BRCA1):c.3835G>C (p.Ala1279Pro)	BRCA1, LOC126862571 (A1279P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity

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