"Ambry Genetics"[submitter] AND "BARD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919193	NM_000465.4(BARD1):c.2334A>G (p.Ter778Trp)	BARD1	Single nucleotide variant (stop lost +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 3260447	NM_000465.4(BARD1):c.2333G>T (p.Ter778Leu)	BARD1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 628819	NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser)	BARD1	Single nucleotide variant (stop lost +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 231736	NM_000465.4(BARD1):c.2333G>A (p.Ter778=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 186958	NM_000465.4(BARD1):c.2332T>C (p.Ter778Arg)	BARD1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1660587	NM_000465.4(BARD1):c.2331C>T (p.Ser777=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 216443	NM_000465.4(BARD1):c.2328C>T (p.Asp776=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 481366	NM_000465.4(BARD1):c.2325dup (p.Asp776Ter)	BARD1 (D306* +4 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 530149	NM_000465.4(BARD1):c.2324T>A (p.Leu775His)	BARD1 (L775H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 3231793	NM_000465.4(BARD1):c.2322T>G (p.Pro774=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 1789600	NM_000465.4(BARD1):c.2322T>C (p.Pro774=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 578473	NM_000465.4(BARD1):c.2321C>T (p.Pro774Leu)	BARD1 (P774L +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 1789574	NM_000465.4(BARD1):c.2320C>G (p.Pro774Ala)	BARD1 (P304A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1620214	NM_000465.4(BARD1):c.2319T>C (p.Leu773=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 485319	NM_000465.4(BARD1):c.2317C>T (p.Leu773Phe)	BARD1 (L773F +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 530225	NM_000465.4(BARD1):c.2316G>A (p.Leu772=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 1320514	NM_000465.4(BARD1):c.2315T>A (p.Leu772Ter)	BARD1 (L259* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 387618	NM_000465.4(BARD1):c.2313G>A (p.Glu771=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 1789448	NM_000465.4(BARD1):c.2311G>C (p.Glu771Gln)	BARD1 (E752Q +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 821073	NM_000465.4(BARD1):c.2310dup (p.Glu771Ter)	BARD1 (E771* +4 more)	Duplication (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 414129	NM_000465.4(BARD1):c.2307C>T (p.Ser769=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 182058	NM_000465.4(BARD1):c.2306C>G (p.Ser769Cys)	BARD1 (S769C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 481365	NM_000465.4(BARD1):c.2304G>A (p.Met768Ile)	BARD1 (M768I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1789295	NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs)	BARD1 (M298fs +4 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1331809	NM_000465.4(BARD1):c.2301G>A (p.Val767=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 2565202	NM_000465.4(BARD1):c.2300T>C (p.Val767Ala)	BARD1 (V254A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1521461	NM_000465.4(BARD1):c.2299G>A (p.Val767Met)	BARD1 (V316M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 479124	NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)	BARD1 (V767L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1010066	NM_000465.4(BARD1):c.2297G>A (p.Cys766Tyr)	BARD1 (C253Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3231792	NM_000465.4(BARD1):c.2295_2296del (p.Asp765fs)	BARD1 (D252fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2203255	NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)	BARD1 (I294fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 182057	NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)	BARD1 (D765G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 821018	NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn)	BARD1 (D252N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 928708	NM_000465.4(BARD1):c.2292A>G (p.Ile764Met)	BARD1 (I251M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 127736	NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)	BARD1 (I764T +4 more)	Single nucleotide variant (missense variant +1 more)	BARD1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1789057	NM_000465.4(BARD1):c.2289dup (p.Ile764fs)	BARD1 (I251fs +4 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2585711	NM_000465.4(BARD1):c.2289T>C (p.Phe763=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1788994	NM_000465.4(BARD1):c.2284T>A (p.Trp762Arg)	BARD1 (W292R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1788972	NM_000465.4(BARD1):c.2283C>T (p.Ser761=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 645078	NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)	BARD1 (S248G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2450473	NM_000465.4(BARD1):c.2280G>T (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 184291	NM_000465.4(BARD1):c.2280G>A (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 479129	NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)	BARD1 (S760L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482796	NM_000465.4(BARD1):c.2277T>C (p.Pro759=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 485326	NM_000465.4(BARD1):c.2275C>G (p.Pro759Ala)	BARD1 (P759A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482803	NM_000465.4(BARD1):c.2275C>T (p.Pro759Ser)	BARD1 (P759S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3260452	NM_000465.4(BARD1):c.2273C>G (p.Ala758Gly)	BARD1 (A288G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820999	NM_000465.4(BARD1):c.2272G>A (p.Ala758Thr)	BARD1 (A288T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 820927	NM_000465.4(BARD1):c.2272G>T (p.Ala758Ser)	BARD1 (A288S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 216442	NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)	BARD1 (A758P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 761668	NM_000465.4(BARD1):c.2271G>A (p.Lys757=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 423972	NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)	BARD1 (K757N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 820985	NM_000465.4(BARD1):c.2268G>C (p.Trp756Cys)	BARD1 (W286C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185366	NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)	BARD1 (W756* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 863791	NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)	BARD1 (W286* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 820983	NM_000465.4(BARD1):c.2265C>G (p.Val755=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 530080	NM_000465.4(BARD1):c.2264T>C (p.Val755Ala)	BARD1 (V755A +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 231229	NM_000465.4(BARD1):c.2263G>A (p.Val755Ile)	BARD1 (V755I +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 646575	NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs)	BARD1 (K735fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 460741	NM_000465.4(BARD1):c.2262A>G (p.Lys754=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 758415	NM_000465.4(BARD1):c.2259C>A (p.Gly753=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 381945	NM_000465.4(BARD1):c.2259C>T (p.Gly753=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 649553	NM_000465.4(BARD1):c.2258G>T (p.Gly753Val)	BARD1 (G240V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 1365760	NM_000465.4(BARD1):c.2257G>T (p.Gly753Cys)	BARD1 (G240C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 187014	NM_000465.4(BARD1):c.2257G>A (p.Gly753Ser)	BARD1 (G753S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 184883	NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)	BARD1 (Q752R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 186572	NM_000465.4(BARD1):c.2253G>A (p.Arg751=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 183946	NM_000465.4(BARD1):c.2253G>T (p.Arg751=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 479151	NM_000465.4(BARD1):c.2252G>C (p.Arg751Pro)	BARD1 (R751P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142117	NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)	BARD1 (R751Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1788440	NM_000465.4(BARD1):c.2251C>A (p.Arg751=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 418642	NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)	BARD1 (R751W +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 751376	NM_000465.4(BARD1):c.2250T>G (p.Val750=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 479146	NM_000465.4(BARD1):c.2249T>A (p.Val750Asp)	BARD1 (V750D +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 479128	NM_000465.4(BARD1):c.2248G>C (p.Val750Leu)	BARD1 (V750L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 182055	NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)	BARD1 (V750I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 631053	NM_000465.4(BARD1):c.2247G>T (p.Arg749Ser)	BARD1 (R749S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 378998	NM_000465.4(BARD1):c.2247G>A (p.Arg749=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1497893	NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys)	BARD1 (R298K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 530037	NM_000465.4(BARD1):c.2243A>G (p.Glu748Gly)	BARD1 (E748G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 820952	NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)	BARD1 (E297* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 820950	NM_000465.4(BARD1):c.2240C>G (p.Pro747Arg)	BARD1 (P296R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1476766	NM_000465.4(BARD1):c.2239C>A (p.Pro747Thr)	BARD1 (P277T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 959301	NM_000465.4(BARD1):c.2239C>G (p.Pro747Ala)	BARD1 (P296A +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 237831	NM_000465.4(BARD1):c.2237A>G (p.His746Arg)	BARD1 (H746R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 184919	NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 419531	NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)	BARD1 (Y745D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 834366	NM_000465.4(BARD1):c.2232T>G (p.Asn744Lys)	BARD1 (N274K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1788112	NM_000465.4(BARD1):c.2231A>G (p.Asn744Ser)	BARD1 (N293S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 490960	NM_000465.4(BARD1):c.2230A>G (p.Asn744Asp)	BARD1 (N744D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 460740	NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)	BARD1 (N293* +4 more)	Duplication (nonsense +1 more)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 460739	NM_000465.4(BARD1):c.2227T>C (p.Cys743Arg)	BARD1 (C743R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 482767	NM_000465.4(BARD1):c.2226G>A (p.Leu742=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 419049	NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)	BARD1 (L742F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 232439	NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)	BARD1 (L742M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1606877	NM_000465.4(BARD1):c.2223T>C (p.Asp741=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign

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