"GeneDx"[submitter] AND "BARD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 58935	GRCh38/hg38 2q34-35(chr2:214076320-215057802)x3	ABCA12, BARD1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1712140	NM_000465.4(BARD1):c.*316T>C	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1222105	NM_000465.4(BARD1):c.*167A>G	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292322	NM_000465.4(BARD1):c.*138dup	BARD1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 801874	NM_000465.4(BARD1):c.136_138dup	BARD1	Duplication (3 prime UTR variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 801873	NM_000465.4(BARD1):c.137_138dup	BARD1	Duplication (3 prime UTR variant +1 more)	Familial cancer of breast +1 more	GBenign
Select item 801875	NM_000465.4(BARD1):c.*138del	BARD1	Deletion (3 prime UTR variant +1 more)	Familial cancer of breast +1 more	GBenign
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 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 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 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 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 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 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 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 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 182056	NM_000465.4(BARD1):c.2279C>G (p.Ser760Trp)	BARD1 (S760W +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 388296	NM_000465.4(BARD1):c.2274T>C (p.Ala758=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2662182	NM_000465.4(BARD1):c.2271G>C (p.Lys757Asn)	BARD1 (K244N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2813308	NM_000465.4(BARD1):c.2264T>G (p.Val755Gly)	BARD1 (V736G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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 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 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 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 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 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 1046919	NM_000465.4(BARD1):c.2242G>C (p.Glu748Gln)	BARD1 (E297Q +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 243117	NM_000465.4(BARD1):c.2242G>A (p.Glu748Lys)	BARD1 (E748K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 127734	NM_000465.4(BARD1):c.2221G>T (p.Asp741Tyr)	BARD1 (D741Y +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 387645	NM_000465.4(BARD1):c.2217T>C (p.Tyr739=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 216441	NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)	BARD1 (Y739C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 858377	NM_000465.4(BARD1):c.2210T>C (p.Ile737Thr)	BARD1 (I224T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 127733	NM_000465.4(BARD1):c.2207A>T (p.Tyr736Phe)	BARD1 (Y736F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 184266	NM_000465.4(BARD1):c.2202A>G (p.Thr734=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 481364	NM_000465.4(BARD1):c.2200A>G (p.Thr734Ala)	BARD1 (T734A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 495876	NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)	BARD1 (F732L +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 142119	NM_000465.4(BARD1):c.2192G>A (p.Arg731His)	BARD1 (R731H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 187551	NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)	BARD1 (R731C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127732	NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	BARD1 (R731G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 182054	NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)	BARD1 (D727N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215748	NM_000465.4(BARD1):c.2178C>T (p.Pro726=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 2565205	NM_000465.4(BARD1):c.2175A>T (p.Arg725Ser)	BARD1 (R255S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 642344	NM_000465.4(BARD1):c.2174G>C (p.Arg725Thr)	BARD1 (R212T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 186822	NM_000465.4(BARD1):c.2172G>T (p.Ala724=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 842679	NM_000465.4(BARD1):c.2171C>G (p.Ala724Gly)	BARD1 (A211G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 820831	NM_000465.4(BARD1):c.2167C>T (p.His723Tyr)	BARD1 (H723Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 388122	NM_000465.4(BARD1):c.2163A>C (p.Ala721=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
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	GBenign/Likely benign
Select item 419398	NM_000465.4(BARD1):c.2161G>T (p.Ala721Ser)	BARD1 (A721S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 141050	NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr)	BARD1 (A721T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 388131	NM_000465.4(BARD1):c.2160C>G (p.Val720=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 229983	NM_000465.4(BARD1):c.2160C>T (p.Val720=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 186747	NM_000465.4(BARD1):c.2158G>T (p.Val720Phe)	BARD1 (V720F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 406754	NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)	BARD1 (T719A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 418856	NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser)	BARD1 (N718S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 490956	NM_000465.4(BARD1):c.2151C>T (p.Ile717=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 187542	NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)	BARD1 (I247fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 237830	NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)	BARD1 (T716A +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 219805	NM_000465.4(BARD1):c.2145G>A (p.Gln715=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 186019	NM_000465.4(BARD1):c.2137G>A (p.Val713Met)	BARD1 (V713M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 182053	NM_000465.4(BARD1):c.2137G>T (p.Val713Leu)	BARD1 (V713L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 230012	NM_000465.4(BARD1):c.2136C>T (p.Asp712=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 460738	NM_000465.4(BARD1):c.2131A>G (p.Ser711Gly)	BARD1 (S711G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 127731	NM_000465.4(BARD1):c.2123A>G (p.Lys708Arg)	BARD1 (K708R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 820756	NM_000465.4(BARD1):c.2120C>T (p.Pro707Leu)	BARD1 (P688L +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 127730	NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)	BARD1 (K706E +4 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 449955	NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter)	BARD1 (R705* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 421245	NM_000465.4(BARD1):c.2113A>G (p.Arg705Gly)	BARD1 (R705G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 587400	NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)	BARD1 (I702M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 629851	NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)	BARD1 (I702T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 142373	NM_000465.4(BARD1):c.2104A>G (p.Ile702Val)	BARD1 (I702V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 384461	NM_000465.4(BARD1):c.2097G>A (p.Gly699=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 231531	NM_000465.4(BARD1):c.2097G>T (p.Gly699=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 182052	NM_000465.4(BARD1):c.2095G>C (p.Gly699Arg)	BARD1 (G699R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 388712	NM_000465.4(BARD1):c.2094T>G (p.Gly698=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 420817	NM_000465.4(BARD1):c.2083G>T (p.Val695Phe)	BARD1 (V695F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 141937	NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)	BARD1 (V695I +4 more)	Single nucleotide variant (missense variant +1 more)	BARD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 186324	NM_000465.4(BARD1):c.2082C>T (p.Leu694=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 142571	NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr)	BARD1 (I692T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 406765	NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe)	BARD1 (L691F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 406793	NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)	BARD1 (D689G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 422826	NM_000465.4(BARD1):c.2063dup (p.Asp689fs)	BARD1 (D176fs +4 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 220100	NM_000465.4(BARD1):c.2057A>G (p.His686Arg)	BARD1 (H686R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 388667	NM_000465.4(BARD1):c.2034T>C (p.Tyr678=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 460735	NM_000465.4(BARD1):c.2033A>G (p.Tyr678Cys)	BARD1 (Y678C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 485325	NM_000465.4(BARD1):c.2027A>C (p.Tyr676Ser)	BARD1 (Y676S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 422493	NM_000465.4(BARD1):c.2027A>G (p.Tyr676Cys)	BARD1 (Y676C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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