"Color Diagnostics, LLC DBA Color Health"[submitter] AND "BARD1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1142

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Familial cancer of breast +1 more	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)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1660587	NM_000465.4(BARD1):c.2331C>T (p.Ser777=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 216443	NM_000465.4(BARD1):c.2328C>T (p.Asp776=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GLikely benign
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 530032	NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)	BARD1 (L775F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629449	NM_000465.4(BARD1):c.2318T>C (p.Leu773Pro)	BARD1 (L773P +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)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 387618	NM_000465.4(BARD1):c.2313G>A (p.Glu771=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 414129	NM_000465.4(BARD1):c.2307C>T (p.Ser769=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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	GLikely 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 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 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 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 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 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 707786	NM_000465.4(BARD1):c.2280G>C (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184291	NM_000465.4(BARD1):c.2280G>A (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 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 992588	NM_000465.4(BARD1):c.2275_2276delinsAT (p.Pro759Ile)	BARD1 (P246I +4 more)	Indel (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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 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 630637	NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)	BARD1	Deletion (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 460741	NM_000465.4(BARD1):c.2262A>G (p.Lys754=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely 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 183946	NM_000465.4(BARD1):c.2253G>T (p.Arg751=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not specified +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 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 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)	not specified +2 more	GLikely benign
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 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 184919	NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GLikely 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 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 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 485316	NM_000465.4(BARD1):c.2222A>G (p.Asp741Gly)	BARD1 (D741G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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 232195	NM_000465.4(BARD1):c.2209A>G (p.Ile737Val)	BARD1 (I737V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 482766	NM_000465.4(BARD1):c.2207A>G (p.Tyr736Cys)	BARD1 (Y736C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 490959	NM_000465.4(BARD1):c.2203C>A (p.Gln735Lys)	BARD1 (Q735K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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	GLikely benign
Select item 628975	NM_000465.4(BARD1):c.2201C>T (p.Thr734Ile)	BARD1 (T734I +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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 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 406780	NM_000465.4(BARD1):c.2195T>C (p.Phe732Ser)	BARD1 (F732S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 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 specified +6 more	GConflicting classifications of pathogenicity
Select item 229888	NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro)	BARD1 (Q730P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629204	NM_000465.4(BARD1):c.2188C>G (p.Gln730Glu)	BARD1 (Q730E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 627693	NM_000465.4(BARD1):c.2184T>C (p.Ser728=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 479142	NM_000465.4(BARD1):c.2183C>T (p.Ser728Phe)	BARD1 (S728F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 233660	NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu)	BARD1 (D727E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 627722	NM_000465.4(BARD1):c.2180A>G (p.Asp727Gly)	BARD1 (D727G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 182054	NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)	BARD1 (D727N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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	GLikely benign
Select item 229941	NM_000465.4(BARD1):c.2176C>T (p.Pro726Ser)	BARD1 (P726S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 414122	NM_000465.4(BARD1):c.2175A>G (p.Arg725=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 925628	NM_000465.4(BARD1):c.2172_2174delinsCAA (p.Arg725Lys)	BARD1 (R706K +4 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231424	NM_000465.4(BARD1):c.2172G>A (p.Ala724=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 186822	NM_000465.4(BARD1):c.2172G>T (p.Ala724=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 142711	NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)	BARD1 (A724V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 183847	NM_000465.4(BARD1):c.2169T>C (p.His723=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 857984	NM_000465.4(BARD1):c.2167C>G (p.His723Asp)	BARD1 (H272D +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 628948	NM_000465.4(BARD1):c.2164T>A (p.Tyr722Asn)	BARD1 (Y722N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 388122	NM_000465.4(BARD1):c.2163A>C (p.Ala721=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 918910	NM_000465.4(BARD1):c.2162C>T (p.Ala721Val)	BARD1 (A208V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 229983	NM_000465.4(BARD1):c.2160C>T (p.Val720=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2774770	NM_000465.4(BARD1):c.2157A>T (p.Thr719=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 744654	NM_000465.4(BARD1):c.2157A>G (p.Thr719=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 628951	NM_000465.4(BARD1):c.2147C>T (p.Thr716Ile)	BARD1 (T716I +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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)	Familial cancer of breast +3 more	GLikely benign
Select item 490955	NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)	BARD1 (Q715* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 489668	NM_000465.4(BARD1):c.2138T>C (p.Val713Ala)	BARD1 (V713A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229785	NM_000465.4(BARD1):c.2138T>G (p.Val713Gly)	BARD1 (V713G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

<< First< Prev

Page of 12