"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125674	NM_007294.4(BRCA1):c.4097-141A>C	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
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 1285144	NM_007294.4(BRCA1):c.3918G>T (p.Leu1306Phe)	BRCA1, LOC126862571 (L1259F +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 55038	NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del)	BRCA1, LOC126862571 (S1298del +20 more)	Microsatellite (intron variant +2 more)	not provided +2 more	GUncertain significance
Select item 37549	NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)	BRCA1, LOC126862571 (I1275V +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55017	NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)	BRCA1, LOC126862571 (V1274fs +21 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17672	NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	BRCA1, LOC126862571 (E1250* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 136085	NM_007294.4(BRCA1):c.3747C>T (p.Thr1249=)	LOC126862571, BRCA1	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 54978	NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)	BRCA1, LOC126862571 (Q1240* +21 more)	Single nucleotide variant (nonsense +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 41818	NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)	BRCA1, LOC126862571 (K1183R +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 1174984	NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala)	BRCA1, LOC126862571 (D1109A +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 41817	NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)	LOC126862571, BRCA1 (S1140G +21 more)	Single nucleotide variant (missense variant +1 more)	BRCA1-related cancer predisposition	GBenignFDA Recognized database
Select item 54830	NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)	BRCA1, LOC126862571 (S1101N +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41816	NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)	BRCA1, LOC126862571 (P1099L +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign