C2676676[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 423398	NM_000546.6(TP53):c.1013T>C (p.Phe338Ser)	TP53 (F206S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 55333	NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	BRCA1 (S1655F +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
Select item 37534	NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)	BRCA1, LOC126862571 (E1163fs +21 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54540	NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)	BRCA1 (Q780* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3027457	NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)	BRCA1 (K711* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely pathogenic
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54108	NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)	BRCA1 (E352* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54102	NM_007294.4(BRCA1):c.1016dup (p.Val340fs)	BRCA1 (V340fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54844	NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)	BRCA1 (E111A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 54400	NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	BRCA1 (C64Y +1 more)	Single nucleotide variant (missense variant)	BRCA1-related cancer predisposition	GPathogenic FDA Recognized database
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Bone osteosarcoma +21 more	GPathogenic