ClinVar (all) for Orgtrack (Select 506205) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548381	NM_000059.4(BRCA2):c.800dup (p.Thr269fs)	BRCA2 (T269fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430604	NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs)	BRCA1 (G1560fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 430603	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2 (M1fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 430601	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2 (S286*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430600	NM_000059.4(BRCA2):c.2754del (p.Asn918fs)	BRCA2 (N918fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430599	NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)	BRCA2 (K1108*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430598	NM_000059.4(BRCA2):c.8206del (p.Leu2736fs)	BRCA2 (L2736fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430597	NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)	BRCA2 (F2801fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430596	NM_024675.4(PALB2):c.3143del (p.Lys1048fs)	PALB2 (K1048fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 430595	NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)	PALB2 (T827fs)	Microsatellite (frameshift variant)	Breast neoplasm +3 more	GPathogenic
Select item 430594	NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)	PALB2 (E215*)	Single nucleotide variant (nonsense)	Breast neoplasm +1 more	GPathogenic
Select item 430593	NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter)	ATM, C11orf65 (W2104*)	Single nucleotide variant (nonsense +1 more)	Breast neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 430592	NM_000546.6(TP53):c.416_420dup (p.Cys141fs)	TP53 (C102fs +2 more)	Duplication (frameshift variant +1 more)	Breast neoplasm +1 more	GPathogenic
Select item 430591	NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	BRIP1 (Y748*)	Single nucleotide variant (nonsense)	Breast neoplasm +6 more	GPathogenic/Likely pathogenic
Select item 430590	NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)	BARD1 (W218* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 430589	Single allele	BRCA1	Deletion	Breast neoplasm	GPathogenic
Select item 417831	NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs)	BRCA1, LOC126862571 (N1215fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 266732	NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)	BRCA2 (L997*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252424	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2 (Q1295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236835	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2 (Q699*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231227	NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)	PALB2 (E990*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 55377	NM_007294.4(BRCA1):c.5075-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic

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Items: 22