C0346153[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 185187	NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)	MLH1 (S556T +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	not provided +4 more	GPathogenic
Select item 3030	NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	ATM, C11orf65	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1696822	NM_000051.4(ATM):c.8584+1G>C	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Carcinoma of pancreas +1 more	GLikely pathogenic
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 52053	NM_000059.4(BRCA2):c.631+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51687	NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 38208	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2 (T3033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38233	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2 (N3124I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126628	NM_024675.4(PALB2):c.1947dup (p.Glu650fs)	PALB2 (E650fs)	Duplication (frameshift variant)	Breast and/or ovarian cancer +2 more	GPathogenic/Likely pathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Colorectal cancer +19 more	GPathogenic
Select item 185097	NM_007194.4(CHEK2):c.902del (p.Leu301fs)	CHEK2 (L301fs +3 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128075	NM_007194.4(CHEK2):c.444+1G>A	CHEK2	Single nucleotide variant (splice donor variant)	Colorectal cancer +11 more	GPathogenic/Likely pathogenic

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Items: 21