"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "BARD1"[gen - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127735	NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	BARD1 (S761N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136501	NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	BARD1 (I738V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 481411	NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys)	BARD1 (F732C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 186249	NM_000465.4(BARD1):c.2163A>G (p.Ala721=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1496385	NM_000465.4(BARD1):c.2002-2A>G	BARD1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 127727	NM_000465.4(BARD1):c.1977A>G (p.Arg659=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136500	NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	BARD1 (R658C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 141702	NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)	BARD1 (R641* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 230296	NM_000465.4(BARD1):c.1914A>G (p.Ala638=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 820310	NM_000465.4(BARD1):c.1903+1G>A	BARD1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 232127	NM_000465.4(BARD1):c.1872del (p.Leu625fs)	BARD1 (L625fs +3 more)	Deletion (frameshift variant +2 more)	Malignant tumor of breast +3 more	GPathogenic/Likely pathogenic
Select item 141929	NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)	BARD1 (T598I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 187625	NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)	BARD1 (R529Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 385318	NM_000465.4(BARD1):c.1479A>G (p.Gln493=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GLikely benign
Select item 374093	NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser)	BARD1 (N488S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 141739	NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)	BARD1 (N470S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 182027	NM_000465.4(BARD1):c.1347A>G (p.Gln449=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 186741	NM_000465.4(BARD1):c.1317C>T (p.Gly439=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 871311	NM_000465.4(BARD1):c.1315-1G>A	BARD1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 229677	NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)	BARD1 (R406* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 186845	NM_000465.4(BARD1):c.1194A>G (p.Thr398=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 406746	NM_000465.4(BARD1):c.965G>A (p.Arg322His)	BARD1 (R322H +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 142225	NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)	BARD1 (L220S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 825480	NM_000465.4(BARD1):c.514G>A (p.Asp172Asn)	BARD1 (D153N +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142450	NM_000465.4(BARD1):c.253G>T (p.Val85Leu)	BARD1 (V85L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 419566	NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)	BARD1 (C71F)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 246176	NM_000465.4(BARD1):c.159-1G>T	BARD1	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 185557	NM_000465.4(BARD1):c.117C>T (p.Ala39=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 182029	NM_000465.4(BARD1):c.57G>A (p.Glu19=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 127737	NM_000465.4(BARD1):c.33G>T (p.Gln11His)	BARD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 809208	GRCh37/hg19 2q35(chr2:215632206-215634036)x1	BARD1	Copy number loss	not provided	GLikely pathogenic
Select item 809207	GRCh37/hg19 2q35(chr2:215593400-215646233)x1	BARD1	Copy number loss	not provided	GLikely pathogenic
Select item 624514	GRCh37/hg19 2q35(chr2:215560030-215650764)x1	BARD1	Copy number loss	not provided	GUncertain significance

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Items: 34