C0346153[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141702	NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)	BARD1 (R641* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1299659	NM_000465.4(BARD1):c.1569-1G>C	BARD1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 987253	NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)	BARD1 (L446* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +1 more	GPathogenic
Select item 229677	NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)	BARD1 (R406* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 2497679	NM_000314.8(PTEN):c.959dup (p.Leu320fs)	PTEN (L123fs +2 more)	Duplication (frameshift variant)	Cowden syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 3025	NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM (R35*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3061962	NM_000051.4(ATM):c.147_148insG (p.Lys50fs)	ATM (K50fs)	Insertion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 185501	NM_000051.4(ATM):c.478_482del (p.Ser160fs)	ATM (S160fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1744409	NM_000051.4(ATM):c.496+334A>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 453684	NM_000051.4(ATM):c.743G>T (p.Arg248Leu)	ATM (R248L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 229794	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	ATM (P292L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 142354	NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	ATM (Y370*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 141939	NM_000051.4(ATM):c.1898+2T>G	ATM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 231933	NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	ATM (Q675*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3044	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 407642	NM_000051.4(ATM):c.2922-50_2940del	ATM	Deletion (splice acceptor variant)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 234132	NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)	ATM (W1026C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3035	NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 127374	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	ATM	Deletion (nonsense)	ATM-related cancer predisposition syndrome +6 more	GPathogenic
Select item 181994	NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	ATM (L1283P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 229880	NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)	ATM	Microsatellite (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 449345	NM_000051.4(ATM):c.5497-2A>C	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 233182	NM_000051.4(ATM):c.5497-1G>A	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	ATM, C11orf65 (E1978*)	Single nucleotide variant (nonsense +1 more)	ATM-related condition +6 more	GPathogenic
Select item 127417	NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	ATM, C11orf65 (R2034*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 39749	NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	C11orf65, ATM (A2067D)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 220763	NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	ATM, C11orf65	Insertion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 236760	NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	C11orf65, ATM (L2307fs)	Microsatellite (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 3023	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	ATM, C11orf65 (V2424G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 3036	NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	ATM, C11orf65 (R2443*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 141647	NM_000051.4(ATM):c.7517_7520del	ATM, C11orf65	Microsatellite (splice acceptor variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	C11orf65, ATM	Single nucleotide variant (splice acceptor variant +1 more)	Colorectal cancer +4 more	GPathogenic
Select item 233938	NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)	ATM, C11orf65 (V2664del)	Microsatellite (inframe_indel +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 371131	NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)	ATM, C11orf65 (K2700*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 181865	NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	ATM, C11orf65 (Y2755fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 186242	NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	C11orf65, ATM (F2799fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1695389	NM_000051.4(ATM):c.8400G>T (p.Gln2800His)	ATM, C11orf65 (Q2800H)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 52160	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast +4 more	GPathogenic
Select item 51711	NM_000059.4(BRCA2):c.475G>A (p.Val159Met)	BRCA2 (V159M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37724	NM_000059.4(BRCA2):c.1029del (p.Lys343fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37731	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37736	NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)	BRCA2 (N433fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37756	NM_000059.4(BRCA2):c.1794_1798del	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51545	NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37902	NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)	BRCA2 (K1472fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51791	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37954	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2 (N1747*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37959	NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37979	NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)	BRCA2 (K1872*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38043	NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	BRCA2 (N2135fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252446	NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)	BRCA2 (S2156fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38048	NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)	BRCA2 (K2162fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38060	NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52178	NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38082	NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38099	NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)	BRCA2 (R2494*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52353	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2 (R2520*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38125	NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	BRCA2 (W2626C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52430	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2 (I2627F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38130	NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)	BRCA2 (R2659G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9340	NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	BRCA2 (T2722R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 986954	NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)	BRCA2 (K2979*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 267712	NM_000059.4(BRCA2):c.8954-5A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 52814	NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)	BRCA2 (W3106*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38233	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2 (N3124I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52831	NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126217	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2 (Y3225fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 546008	NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	PALB2 (C1147*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1343343	NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val)	PALB2 (E1011V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 182771	NM_024675.4(PALB2):c.2834+1G>A	PALB2	Single nucleotide variant (splice donor variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 126660	NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 216121	NM_024675.4(PALB2):c.2470dup (p.Cys824fs)	PALB2 (C824fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 142403	NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	PALB2 (R753*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 182739	NM_024675.4(PALB2):c.2032del (p.Leu678fs)	PALB2 (L678fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1243	NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)	PALB2 (Y551*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 187412	NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)	PALB2 (L484*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 128117	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2 (R414*)	Single nucleotide variant (nonsense)	PALB2-related condition +6 more	GPathogenic
Select item 460871	NM_024675.4(PALB2):c.1046del (p.Asn349fs)	PALB2 (N349fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 126768	NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	PALB2 (L253fs)	Microsatellite (frameshift variant)	Breast and/or ovarian cancer +6 more	GPathogenic
Select item 231734	NM_024675.4(PALB2):c.658del (p.Ser220fs)	PALB2 (S220fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	PALB2-related condition +11 more	GPathogenic
Select item 265632	NM_024675.4(PALB2):c.487_488del (p.Val163fs)	PALB2 (V163fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +4 more	GPathogenic
Select item 922313	NM_024675.4(PALB2):c.293dup (p.Thr99fs)	PALB2 (T99fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 640795	NM_024675.4(PALB2):c.212-2A>C	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 650958	NM_024675.4(PALB2):c.211+1G>T	PALB2	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 126629	NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	PALB2 (Q66*)	Single nucleotide variant (nonsense)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 126623	NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	PALB2 (Q60fs)	Microsatellite (frameshift variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 241570	NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	PALB2 (E27*)	Single nucleotide variant (nonsense)	PALB2-related condition +6 more	GPathogenic/Likely pathogenic
Select item 987066	NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)	CDH1 (Q195*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic

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