ClinVar (all) for Orgtrack (Select 508150) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678651	NM_000059.4(BRCA2):c.7923dup (p.Phe2642fs)	BRCA2 (F2642fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 826530	NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)	BRCA2 (K2217*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 545990	NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)	BRCA2 (Q1235*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 267053	NM_000059.4(BRCA2):c.805dup (p.Thr269fs)	BRCA2 (T269fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266529	NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)	BRCA1 (Q1721* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54904	NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)	LOC126862571, BRCA1	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54683	NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)	BRCA1 (Q934* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 51355	NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	BRCA2 (K944*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38207	NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	BRCA2 (Q3026*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38116	NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)	BRCA2 (W2586*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic