C0677776[trait identifier] AND "King Laboratory, University of Washing - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246176	NM_000465.4(BARD1):c.159-1G>T	BARD1	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 449345	NM_000051.4(ATM):c.5497-2A>C	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 873424	NC_000013.11:g.32315358_32316294del	BRCA2, LOC106721785 +2 more	Deletion	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 186603	NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)	BRCA2 (T10A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 873410	NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)	BRCA2 (N43S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 51801	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 135814	NM_000059.4(BRCA2):c.750G>A (p.Val250=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52241	NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	BRCA2 (R2336P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +6 more	GPathogenic
Select item 52237	NM_000059.4(BRCA2):c.7007+1G>C	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 52239	NM_000059.4(BRCA2):c.7007+5G>A	BRCA2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 873425	GRCh38/hg38 13q13.1(chr13:32353598-32384308)	BRCA2, LOC112163653	Copy number gain	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 38098	NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)	BRCA2 (D2489G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135815	NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)	BRCA2 (R2520P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 38110	NM_000059.4(BRCA2):c.7618-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 185651	NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)	BRCA2 (Y2601C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 482993	NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)	BRCA2 (T2607I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 52430	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2 (I2627F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38131	NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	BRCA2 (R2659K)	Single nucleotide variant (missense variant)	BRCA2-related condition +5 more	GPathogenic/Likely pathogenic
Select item 418088	NM_000059.4(BRCA2):c.7976+2C>G	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 52463	NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52471	NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	BRCA2 (S2670L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +11 more	GPathogenic/Likely pathogenic
Select item 441452	NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)	BRCA2 (L2736F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 441480	NM_000059.4(BRCA2):c.8285C>G (p.Pro2762Arg)	BRCA2 (P2762R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 231812	NM_000059.4(BRCA2):c.8331+3A>C	BRCA2	Single nucleotide variant (intron variant)	not specified +11 more	GUncertain significance
Select item 38155	NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	BRCA2 (R2784W)	Single nucleotide variant (missense variant)	BRCA2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 52562	NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)	BRCA2 (R2787C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135818	NM_000059.4(BRCA2):c.8510G>T (p.Gly2837Val)	BRCA2 (G2837V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 52742	NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)	BRCA2 (Q3026E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38215	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 52817	NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)	BRCA2 (K3115R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 873414	NM_000059.4(BRCA2):c.9648+127G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 126711	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2 (W1038*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 472631	NM_002878.4(RAD51D):c.904-2A>T	RAD51L3-RFFL, RAD51D	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 4 +2 more	GConflicting classifications of pathogenicity
Select item 125856	NM_007294.4(BRCA1):c.5468-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 531285	NM_007294.4(BRCA1):c.5406+4_5406+7del	BRCA1	Microsatellite (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic/Likely pathogenic
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 55456	NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)	BRCA1 (V1736G +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 55451	NM_007294.4(BRCA1):c.5194-12G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 873409	NM_007294.4(BRCA1):c.5097G>A (p.Arg1699=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 37628	NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)	BRCA1 (T1691I +77 more)	Single nucleotide variant (missense variant +1 more)	BRCA1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 187617	NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 136551	NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55341	NM_007294.4(BRCA1):c.4986+3G>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
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 37598	NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	BRCA1 (R1495M +75 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GPathogenic
Select item 873428	NM_007294.4(BRCA1):c.4185+31TG[3]	BRCA1	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37686	NM_007294.4(BRCA1):c.594-2A>C	BRCA1	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37446	NM_007294.4(BRCA1):c.212+1G>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 125566	NM_007294.4(BRCA1):c.135-20T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136093	NM_007294.4(BRCA1):c.81T>C (p.Cys27=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 37703	NM_007294.4(BRCA1):c.81-6T>C	BRCA1	Single nucleotide variant (intron variant)	BRCA1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 55691	NM_007294.4(BRCA1):c.75C>T (p.Pro25=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 128201	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 216652	NM_007194.4(CHEK2):c.846+4_846+7del	CHEK2	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142956	NM_007194.4(CHEK2):c.592+3A>T	CHEK2	Single nucleotide variant (intron variant)	CHEK2-Related Cancer Susceptibility +6 more	GConflicting classifications of pathogenicity

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Items: 56