C0006142[trait identifier] AND "King Laboratory, University of Washing - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127327	NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	ATM (R337C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3044	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 133618	NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)	ATM (M1321I)	Single nucleotide variant (missense variant)	ATM-related condition +5 more	GConflicting classifications of pathogenicity
Select item 986731	NM_001330368.2(C11orf65):c.640+16147_640+22966del	C11orf65, ATM	Deletion (intron variant)	Malignant tumor of breast	GPathogenic
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 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 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 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 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 136133	NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)	PALB2 (L763F)	Single nucleotide variant (missense variant)	PALB2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 127926	NM_004360.5(CDH1):c.2440-6C>G	CDH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 986730	NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del)	TP53	Deletion (inframe_deletion)	Malignant tumor of breast	GPathogenic
Select item 986729	NM_002878.4(RAD51D):c.738+402_*1465del	RAD51D, RAD51L3-RFFL	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 138877	NM_002878.4(RAD51D):c.904-3C>T	RAD51L3-RFFL, RAD51D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 986728	NG_008150.2:g.14927_51132dup	CHEK2	Duplication	Malignant tumor of breast	GPathogenic
Select item 128075	NM_007194.4(CHEK2):c.444+1G>A	CHEK2	Single nucleotide variant (splice donor variant)	Melanoma +11 more	GPathogenic/Likely pathogenic
Select item 128069	NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	CHEK2	Microsatellite (inframe_deletion +1 more)	Predisposition to cancer +5 more	GConflicting classifications of pathogenicity

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Items: 26