ClinVar (all) for Orgtrack (Select 506912) - ClinVar

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

Links from Orgtrack

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632617	NM_007294.4(BRCA1):c.81-11T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GBenign/Likely benign
Select item 632616	NM_024675.4(PALB2):c.3201+5G>T	PALB2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 632615	NM_000059.4(BRCA2):c.8954-2A>T	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 632614	NM_000059.4(BRCA2):c.8488-20T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 632613	NM_000059.4(BRCA2):c.8332-13T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 632612	NM_000059.4(BRCA2):c.7617+1del	BRCA2	Deletion (splice donor variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 632611	NM_007294.4(BRCA1):c.4185+4105C>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GLikely pathogenic
Select item 632610	NM_007294.4(BRCA1):c.5468-1_5468delinsTT	BRCA1	Indel (splice acceptor variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 632609	NM_007294.4(BRCA1):c.5153G>T (p.Trp1718Leu)	BRCA1 (W1718L +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 531315	NM_000059.4(BRCA2):c.516+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 462463	NM_000059.4(BRCA2):c.7976+5G>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 267553	NM_007294.4(BRCA1):c.4675+1G>C	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 267548	NM_007294.4(BRCA1):c.4484+5G>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GPathogenic
Select item 221064	NM_007294.4(BRCA1):c.212+17T>C	BRCA1	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 215874	NM_007294.4(BRCA1):c.4485-10A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 182296	NM_000059.4(BRCA2):c.7805+13A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign/Likely benign
Select item 142861	NM_000059.4(BRCA2):c.8332-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141283	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +11 more	GPathogenic/Likely pathogenic
Select item 136547	NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 125831	NM_007294.4(BRCA1):c.5333-8C>T	BRCA1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 125710	NM_007294.4(BRCA1):c.4358-10C>T	BRCA1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 91636	NM_007294.4(BRCA1):c.5074+6C>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 91520	NM_000059.4(BRCA2):c.9257-10dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 55537	NM_007294.4(BRCA1):c.5333-3T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55369	NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)	BRCA1 (M1689T +77 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 54750	NM_007294.4(BRCA1):c.302-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
Select item 54214	NM_007294.4(BRCA1):c.135-18T>G	BRCA1	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 52854	NM_000059.4(BRCA2):c.9501+4A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 52334	NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)	BRCA2 (S2483G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GUncertain significance
Select item 38243	NM_000059.4(BRCA2):c.9501+9A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38242	NM_000059.4(BRCA2):c.9501+3A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38096	NM_000059.4(BRCA2):c.7435+6G>A	BRCA2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 38036	NM_000059.4(BRCA2):c.632-16A>C	BRCA2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 17694	NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	BRCA1 (M1775R +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 34