580[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance
Select item 58935	GRCh38/hg38 2q34-35(chr2:214076320-215057802)x3	ABCA12, BARD1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 951555	NM_000465.4(BARD1):c.2330_*684del (p.Ser777fs)	BARD1 (S264fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	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)	not provided +1 more	GBenign
Select item 369328	NM_000465.4(BARD1):c.135_138dup	BARD1	Duplication (3 prime UTR variant +1 more)	Breast neoplasm	GConflicting classifications of pathogenicity
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 801876	NM_000465.4(BARD1):c.122_123del	BARD1	Deletion (3 prime UTR variant +1 more)	Familial cancer of breast	GBenign
Select item 801877	NM_000465.4(BARD1):c.*119G>A	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cancer of breast	GBenign
Select item 894881	NM_000465.4(BARD1):c.*38C>T	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 490915	NM_000465.4(BARD1):c.*12G>C	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 665652	NC_000002.12:g.(?_214728666)_(214745864_?)del	BARD1, LOC129935540 +1 more	Deletion	Familial cancer of breast	GPathogenic
Select item 660670	NC_000002.12:g.(?_214728666)_(214809579_?)del	BARD1, LOC129935540 +3 more	Deletion	Familial cancer of breast	GPathogenic
Select item 655756	NC_000002.12:g.(?_214728666)_(214730518_?)del	BARD1	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 655226	NC_000002.12:g.(?_214728666)_(214797127_?)del	LOC129935540, LOC129935541 +1 more	Deletion	Familial cancer of breast	GPathogenic
Select item 649054	NC_000002.11:g.(?_215593390)_(215634046_?)dup	BARD1, LOC129935540 +1 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 584246	NC_000002.11:g.(?_215593390)_(215674303_?)dup	BARD1, LOC129935540 +3 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 2691050	NM_000465.4(BARD1):c.*8A>G	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 583721	NC_000002.11:g.(?_215593394)_(215634042_?)dup	BARD1, LOC129935540 +1 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 460645	NC_000002.11:g.(?_215593394)_(215674299_?)dup	LOC129935540, LOC129935541 +3 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 460644	NC_000002.12:g.(?_214728670)_(214781515_?)del	BARD1, LOC129935540 +1 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1049655	NM_000465.4(BARD1):c.1904-502_*2del	BARD1	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 216434	NM_000465.3(BARD1):c.1315-?_*(1_?)dup	BARD1, LOC129935540 +1 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 923879	NM_000465.4(BARD1):c.2334A>C (p.Ter778Cys)	BARD1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919193	NM_000465.4(BARD1):c.2334A>G (p.Ter778Trp)	BARD1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 628819	NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser)	BARD1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231736	NM_000465.4(BARD1):c.2333G>A (p.Ter778=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +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 2679923	NM_000465.4(BARD1):c.2331C>G (p.Ser777Arg)	BARD1 (S264R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	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	GLikely benign
Select item 2893954	NM_000465.4(BARD1):c.2330G>A (p.Ser777Asn)	BARD1 (S758N +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 530166	NM_000465.4(BARD1):c.2329A>C (p.Ser777Arg)	BARD1 (S777R +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 216443	NM_000465.4(BARD1):c.2328C>T (p.Asp776=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1518744	NM_000465.4(BARD1):c.2326G>C (p.Asp776His)	BARD1 (D263H +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 481366	NM_000465.4(BARD1):c.2325dup (p.Asp776Ter)	BARD1 (D306* +4 more)	Duplication (nonsense +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)	Hereditary cancer-predisposing syndrome +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)	Familial cancer of breast +2 more	GUncertain significance
Select item 530032	NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)	BARD1 (L775F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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	GLikely 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	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)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 629449	NM_000465.4(BARD1):c.2318T>C (p.Leu773Pro)	BARD1 (L773P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1434377	NM_000465.4(BARD1):c.2317C>G (p.Leu773Val)	BARD1 (L322V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
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	GLikely benign
Select item 1320514	NM_000465.4(BARD1):c.2315T>A (p.Leu772Ter)	BARD1 (L259* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2808827	NM_000465.4(BARD1):c.2313G>C (p.Glu771Asp)	BARD1 (E771D +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 387618	NM_000465.4(BARD1):c.2313G>A (p.Glu771=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely 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	GUncertain significance
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 2761436	NM_000465.4(BARD1):c.2310T>C (p.Phe770=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 967350	NM_000465.4(BARD1):c.2309T>G (p.Phe770Cys)	BARD1 (F257C +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2864357	NM_000465.4(BARD1):c.2307C>G (p.Ser769=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 1013922	NM_000465.4(BARD1):c.2307del (p.Phe770fs)	BARD1 (F257fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	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	GLikely benign
Select item 1956153	NM_000465.4(BARD1):c.2306C>T (p.Ser769Phe)	BARD1 (S318F +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 182058	NM_000465.4(BARD1):c.2306C>G (p.Ser769Cys)	BARD1 (S769C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +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	GUncertain significance
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 530123	NM_000465.4(BARD1):c.2303T>C (p.Met768Thr)	BARD1 (M768T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2583691	NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)	BARD1 (M255* +4 more)	Microsatellite (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 2812826	NM_000465.4(BARD1):c.2301G>C (p.Val767=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 1331809	NM_000465.4(BARD1):c.2301G>A (p.Val767=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 230523	NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	BARD1 (V254fs +4 more)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +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	GUncertain significance
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 2765043	NM_000465.4(BARD1):c.2296T>G (p.Cys766Gly)	BARD1 (C766G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2849404	NM_000465.4(BARD1):c.2295C>G (p.Asp765Glu)	BARD1 (D252E +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 1620215	NM_000465.4(BARD1):c.2295C>T (p.Asp765=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
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)	Familial cancer of breast +1 more	GUncertain significance
Select item 2850843	NM_000465.4(BARD1):c.2292A>C (p.Ile764=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GLikely benign
Select item 928708	NM_000465.4(BARD1):c.2292A>G (p.Ile764Met)	BARD1 (I251M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 530103	NM_000465.4(BARD1):c.2290A>G (p.Ile764Val)	BARD1 (I764V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	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 2774769	NM_000465.4(BARD1):c.2288T>A (p.Phe763Tyr)	BARD1 (F293Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2421054	NM_000465.4(BARD1):c.2286G>C (p.Trp762Cys)	BARD1 (W249C +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2036678	NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)	BARD1 (W762* +4 more)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
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	GLikely 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)	Hereditary cancer-predisposing syndrome	GLikely benign

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