C0346153[trait identifier] AND "Department of Molecular Diagnostics, I - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 846304	NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)	CDC73 (R91*)	Single nucleotide variant (nonsense)	Hyperparathyroidism 1 +2 more	GPathogenic
Select item 1493576	NM_000179.3(MSH6):c.3646+5G>A	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	NBN-related disorder +7 more	GPathogenic
Select item 232248	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	ATM (R23*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 233820	NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)	ATM (D58Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 374194	NM_000051.4(ATM):c.689del (p.Asn230fs)	ATM (N230fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 127340	NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	ATM (E522fs)	Microsatellite (frameshift variant)	Seizure +7 more	GPathogenic
Select item 638928	NM_000051.4(ATM):c.3285-2A>G	ATM	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GPathogenic
Select item 127374	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	ATM	Deletion (nonsense)	Familial cancer of breast +6 more	GPathogenic
Select item 407707	NM_000051.4(ATM):c.4110-1G>A	ATM	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 420011	NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)	ATM	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 189177	NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	ATM (Q1839*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 1696413	NM_000051.4(ATM):c.5763-1056G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	C11orf65, ATM (E1978*)	Single nucleotide variant (nonsense +1 more)	ATM-related disorder +6 more	GPathogenic
Select item 617781	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM, C11orf65 (Q2028fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 181974	NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	C11orf65, ATM (R2032K)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
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 219629	NM_000051.4(ATM):c.7789-3T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 187077	NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	ATM, C11orf65 (I2606V)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 142700	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM, C11orf65 (V2716A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 420799	NM_000051.4(ATM):c.8268+1G>A	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 407590	NM_000051.4(ATM):c.8269G>A (p.Val2757Met)	ATM, C11orf65 (V2757M)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 617780	NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	ATM, C11orf65 (Q2809*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127459	NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	ATM, C11orf65 (R2832C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
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 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52402	NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)	BRCA2 (R259*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 51139	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2 (E510*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51190	NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)	BRCA2 (I591fs)	Microsatellite (frameshift variant)	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 51438	NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)	BRCA2 (Q1089*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51493	NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51599	NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2 (Q1371*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51605	NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)	BRCA2 (K1381fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51767	NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)	BRCA2 (Q1701*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51837	NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)	BRCA2 (S1764*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37960	NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	BRCA2 (N1784fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51861	NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)	BRCA2 (E1811fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51879	NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)	BRCA2 (V1854fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51890	NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)	BRCA2	Indel (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 38001	NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52100	NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38047	NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	BRCA2 (Q2157fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52122	NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38059	NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)	BRCA2 (Y2215fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52241	NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	BRCA2 (R2336P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +6 more	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 52298	NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)	BRCA2 (H2417fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52418	NM_000059.4(BRCA2):c.7806-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52468	NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)	BRCA2 (R2668*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52519	NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)	BRCA2 (W2725*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52573	NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)	BRCA2 (R2799fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52656	NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38183	NM_000059.4(BRCA2):c.8755-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52694	NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)	BRCA2 (Q2960*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52704	NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)	BRCA2 (S2978*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38215	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Single nucleotide variant (synonymous variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 9347	NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2 (Q3066*)	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 1245	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group N +4 more	GPathogenic/Likely pathogenic
Select item 126745	NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GBenign/Likely benign
Select item 617778	NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)	PALB2 (Y1055*)	Duplication (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 128130	NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 617779	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2 (L731*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 126614	NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)	PALB2 (Q559fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
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 126598	NM_024675.4(PALB2):c.1317del (p.Phe440fs)	PALB2	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 128117	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2 (R414*)	Single nucleotide variant (nonsense)	Familial cancer of breast +8 more	GPathogenic
Select item 126583	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	PALB2 (Q343*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	PALB2-related disorder +11 more	GPathogenic
Select item 126623	NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	PALB2 (Q60fs)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 143978	NM_024675.4(PALB2):c.48G>A (p.Lys16=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 486826	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1 (M1T)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 1012194	NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter)	CDH1 (Y228*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 127915	NM_004360.5(CDH1):c.1565+1G>A	CDH1	Single nucleotide variant (splice donor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 55556	NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)	BRCA1 (K1793* +79 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55480	NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1 (R1751* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55396	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1 (R1699W +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17674	NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	BRCA1, LOC126862571 (N1355fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37560	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1, LOC126862571 (E1299fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17673	NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	BRCA1, LOC126862571 (S1253fs +21 more)	Microsatellite (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37542	NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	BRCA1, LOC126862571 (V1234fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54885	NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)	BRCA1, LOC126862571 (C1146fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37438	NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	BRCA1 (K607fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54159	NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)	BRCA1 (S398* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54110	NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)	BRCA1 (W353* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17683	NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)	BRCA1 (S282fs +19 more)	Deletion (intron variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37693	NM_007294.4(BRCA1):c.676del (p.Cys226fs)	BRCA1 (C226fs +1 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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