"Counsyl"[submitter] AND "BARD1"[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141836	NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)	BARD1 (L262fs +4 more)	Deletion (frameshift variant +1 more)	not specified +3 more	GUncertain significance
Select item 230523	NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	BARD1 (V254fs +4 more)	Microsatellite (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 237832	NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg)	BARD1 (W762R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 127732	NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	BARD1 (R731G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 142456	NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)	BARD1 (D710V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 548723	NM_000465.4(BARD1):c.2001+3A>G	BARD1	Single nucleotide variant (intron 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)	not provided +4 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)	not provided +5 more	GBenign/Likely benign
Select item 127725	NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)	BARD1 (E139fs +4 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 487427	NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)	BARD1 (Q647* +4 more)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 142135	NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	BARD1 (C645R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 142336	NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)	BARD1 (D612V +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 548801	NM_000465.4(BARD1):c.1811-16dup	BARD1	Duplication (intron variant)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 220357	NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup)	BARD1	Duplication (inframe_insertion +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 136499	NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)	BARD1 (E580K +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign
Select item 141384	NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)	BARD1 (S551* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 186171	NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)	BARD1 (S538N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 406731	NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys)	BARD1 (Y516C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141608	NM_000465.4(BARD1):c.1448A>G (p.His483Arg)	BARD1 (H483R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 141829	NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr)	BARD1 (C469Y +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 182033	NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)	BARD1 (P454A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 182046	NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	BARD1 (L447V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 182045	NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)	BARD1 (P442L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 371882	NM_000465.4(BARD1):c.1315-21C>A	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 530143	NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)	BARD1 (I434F +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406786	NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)	BARD1 (K379N +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 406734	NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)	BARD1 (S376A +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 141239	NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)	BARD1 (R370C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 140795	NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)	BARD1	Deletion	not specified +4 more	GBenign/Likely benign
Select item 185563	NM_000465.4(BARD1):c.1059C>G (p.Pro353=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 127712	NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)	BARD1 (T343I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 187028	NM_000465.4(BARD1):c.944C>T (p.Pro315Leu)	BARD1 (P315L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 185922	NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)	BARD1 (P281L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127749	NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)	BARD1 (P281S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 140875	NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)	BARD1 (I258T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 245891	NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)	BARD1 (N255S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 136497	NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)	BARD1 (S241C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 127746	NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)	BARD1 (L239Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127743	NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)	BARD1 (E223G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127741	NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)	BARD1 (K207R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 136496	NM_000465.4(BARD1):c.609A>C (p.Gly203=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 142184	NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)	BARD1 (D190N +1 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 237839	NM_000465.4(BARD1):c.545T>G (p.Phe182Cys)	BARD1 (F182C +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 215472	NM_000465.4(BARD1):c.365-8del	BARD1	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 372040	NM_000465.4(BARD1):c.364+16A>G	BARD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 127738	NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)	BARD1 (N118S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142156	NM_000465.4(BARD1):c.346C>T (p.His116Tyr)	BARD1 (H116Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 371950	NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr)	BARD1 (C78Y +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 489669	NM_000465.4(BARD1):c.216-9A>T	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 371920	NM_000465.4(BARD1):c.215+20T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 371931	NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	BARD1 (E59fs)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 220225	NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)	BARD1 (R43S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 142728	NM_000465.4(BARD1):c.95G>T (p.Gly32Val)	BARD1 (G32V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182029	NM_000465.4(BARD1):c.57G>A (p.Glu19=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 127740	NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)	BARD1 (N18K)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127737	NM_000465.4(BARD1):c.33G>T (p.Gln11His)	BARD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60