ClinVar for MedGen (Select 44264) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 700

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801682	NM_000465.4(BARD1):c.1903+1G>C	BARD1	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 1801681	NM_000251.3(MSH2):c.2T>A (p.Met1Lys)	MSH2 (M1K)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1801680	NM_000179.3(MSH6):c.2263G>T (p.Glu755Ter)	MSH6 (E453* +8 more)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801679	NM_002354.3(EPCAM):c.179C>G (p.Ser60Ter)	EPCAM (S60*)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801678	NM_002354.3(EPCAM):c.77-2A>G	EPCAM	Single nucleotide variant (splice acceptor variant)	Gastric cancer	GPathogenic
Select item 1801677	NM_001128425.2(MUTYH):c.36+1G>C	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Gastric cancer	GPathogenic
Select item 1801676	NM_001048174.2(MUTYH):c.67C>T (p.Gln23Ter)	MUTYH (Q23* +2 more)	Single nucleotide variant (nonsense +2 more)	Gastric cancer	GPathogenic
Select item 1801675	NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)	MUTYH (W103* +9 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GConflicting classifications of pathogenicity
Select item 1801674	NM_002354.3(EPCAM):c.373A>T (p.Arg125Ter)	EPCAM (R125*)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801673	NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter)	MUTYH (E226* +12 more)	Single nucleotide variant (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801672	NM_001048174.2(MUTYH):c.1441A>T (p.Lys481Ter)	MUTYH (K366* +12 more)	Single nucleotide variant (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801671	NM_001048174.2(MUTYH):c.1495C>T (p.Gln499Ter)	MUTYH (Q384* +12 more)	Single nucleotide variant (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801670	NM_032043.3(BRIP1):c.508-1G>A	BRIP1	Single nucleotide variant (splice acceptor variant)	Gastric cancer	GPathogenic
Select item 1801669	NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)	BRIP1 (G529*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic
Select item 1801668	NM_002354.3(EPCAM):c.3G>C (p.Met1Ile)	EPCAM (M1I)	Single nucleotide variant (missense variant +1 more)	Gastric cancer	GPathogenic
Select item 1801667	NM_006361.6(HOXB13):c.814A>T (p.Lys272Ter)	HOXB13 (K272*)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801666	NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)	ATM	Indel (nonsense)	Gastric cancer	GPathogenic
Select item 1801665	NM_000535.7(PMS2):c.285delinsAAGATTCAA (p.Phe95fs)	PMS2 (F95fs)	Indel (frameshift variant +3 more)	Gastric cancer	GPathogenic
Select item 1801664	NM_007194.4(CHEK2):c.668del (p.Met222_Ser223insTer)	CHEK2	Deletion (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801663	NM_007194.4(CHEK2):c.826del (p.Ile276fs)	CHEK2 (I209fs +3 more)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1801662	NM_007194.4(CHEK2):c.908+2del	CHEK2	Deletion (splice donor variant)	Gastric cancer	GPathogenic
Select item 1801661	NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)	SMAD4 (S411fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801660	NM_032043.3(BRIP1):c.337_343del (p.Thr113fs)	BRIP1 (T113fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801659	NM_032043.3(BRIP1):c.1206del (p.Arg403fs)	BRIP1 (R403fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801658	NM_032043.3(BRIP1):c.2558del (p.Pro853fs)	BRIP1 (P853fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1801657	NM_032043.3(BRIP1):c.3307_3308del (p.Asp1102_Ile1103insTer)	BRIP1	Deletion (nonsense)	Gastric cancer	GPathogenic
Select item 1801656	NM_058216.3(RAD51C):c.965+1del	RAD51C	Deletion (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 1801655	NM_002354.3(EPCAM):c.1A>G (p.Met1Val)	EPCAM (M1V)	Single nucleotide variant (missense variant +1 more)	EPCAM-related condition	GLikely pathogenic
Select item 1801654	NM_006361.6(HOXB13):c.844_845del (p.Ala282fs)	HOXB13 (A282fs)	Microsatellite (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801653	NM_007294.4(BRCA1):c.3100_3101del (p.Asn1034fs)	BRCA1 (N1034fs +20 more)	Deletion (intron variant +1 more)	Gastric cancer	GPathogenic
Select item 1801652	NM_002878.4(RAD51D):c.574del (p.Gln192fs)	RAD51D, RAD51L3-RFFL (Q192fs +2 more)	Deletion (non-coding transcript variant +1 more)	Gastric cancer	GPathogenic
Select item 1801651	NM_002878.4(RAD51D):c.866del (p.Gly289fs)	RAD51D, RAD51L3-RFFL (G177fs +2 more)	Deletion (non-coding transcript variant +1 more)	Gastric cancer	GPathogenic
Select item 1801650	NM_002878.4(RAD51D):c.974del (p.Gly325fs)	RAD51D, RAD51L3-RFFL (G213fs +2 more)	Deletion (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 1801649	NM_001042492.3(NF1):c.6098del (p.Asp2033fs)	NF1 (D2012fs +1 more)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801648	NM_001042492.3(NF1):c.3669_3687del (p.Ile1223fs)	NF1 (I1223fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801647	NM_001042492.3(NF1):c.3424_3425del (p.Arg1142fs)	NF1 (R1142fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801646	NM_024675.4(PALB2):c.609del (p.Lys203fs)	PALB2 (K203fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1801645	NM_000059.4(BRCA2):c.6461_6473del (p.Tyr2154fs)	BRCA2 (Y2154fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801644	NM_000059.4(BRCA2):c.6063_6066del (p.His2021fs)	BRCA2 (H2021fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801643	NM_000059.4(BRCA2):c.4539_4542del (p.Asp1513fs)	BRCA2 (D1513fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801642	NM_000059.4(BRCA2):c.3572del (p.Lys1191fs)	BRCA2 (K1191fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801641	NM_000059.4(BRCA2):c.3481_3482del (p.Asp1161fs)	BRCA2 (D1161fs)	Microsatellite (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801640	NM_000059.4(BRCA2):c.2802del (p.Asp935fs)	BRCA2 (D935fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801639	NM_000059.4(BRCA2):c.2516_2519del (p.Lys838_Tyr839insTer)	BRCA2	Deletion (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801638	NM_000059.4(BRCA2):c.2368del (p.Glu790fs)	BRCA2 (E790fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801637	NM_000059.4(BRCA2):c.1770del (p.Phe590fs)	BRCA2 (F590fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801636	NM_000051.4(ATM):c.7410_7425del (p.Asn2469_Tyr2470insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801635	NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs)	ATM (Q1919fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801634	NM_000051.4(ATM):c.3921del (p.Met1308fs)	ATM (M1308fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801633	NM_000051.4(ATM):c.2723del (p.Val908fs)	ATM (V908fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801632	NM_000051.4(ATM):c.2145del (p.Val716fs)	ATM (V716fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801631	NM_000051.4(ATM):c.1347_1348del (p.Glu450fs)	ATM (E450fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801630	NM_000051.4(ATM):c.1258del (p.Ile420fs)	ATM (I420fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801629	NM_000051.4(ATM):c.270del (p.Arg90fs)	ATM (R90fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801628	NM_000051.4(ATM):c.191del (p.Leu64fs)	ATM (L64fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801627	NM_000314.8(PTEN):c.254-2_254-1del	PTEN	Deletion (splice acceptor variant)	Gastric cancer	GPathogenic
Select item 1801626	NM_002485.5(NBN):c.2168_2172del (p.Leu723fs)	NBN (L641fs +1 more)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801625	NM_000038.6(APC):c.5818del (p.Ile1940fs)	APC (I1657fs +12 more)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801624	NM_000465.4(BARD1):c.417_427del (p.Lys139fs)	BARD1 (K120fs +1 more)	Deletion (frameshift variant +2 more)	Gastric cancer	GPathogenic
Select item 1801623	NM_000465.4(BARD1):c.629del (p.Thr210fs)	BARD1 (T191fs +1 more)	Deletion (frameshift variant +2 more)	Gastric cancer	GPathogenic
Select item 1801622	NM_000465.4(BARD1):c.735del (p.Gln245fs)	BARD1 (Q226fs +1 more)	Deletion (frameshift variant +2 more)	Gastric cancer	GPathogenic
Select item 1801621	NM_000465.4(BARD1):c.1029del (p.Ser344fs)	BARD1 (S325fs +1 more)	Deletion (frameshift variant +2 more)	Gastric cancer	GPathogenic
Select item 1801620	NM_000179.3(MSH6):c.4001+1del	MSH6	Deletion (splice donor variant +1 more)	Gastric cancer	GPathogenic
Select item 1801619	NM_000179.3(MSH6):c.3511del (p.Asp1171fs)	MSH6 (D1041fs +2 more)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801618	NM_000179.3(MSH6):c.2752del (p.His918fs)	MSH6 (H616fs +2 more)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801617	NM_000059.4(BRCA2):c.8005A>T (p.Arg2669Ter)	BRCA2 (R1025* +3 more)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801616	NM_002354.3(EPCAM):c.167del (p.Thr56fs)	EPCAM (T56fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801615	NM_002354.3(EPCAM):c.87_88del (p.Cys29_Glu30delinsTer)	EPCAM	Microsatellite (nonsense)	Gastric cancer	GPathogenic
Select item 1801614	NM_002354.3(EPCAM):c.37del (p.Ala14fs)	EPCAM (A14fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801613	NM_001128425.2(MUTYH):c.36+1del	TOE1, MUTYH	Deletion (5 prime UTR variant +2 more)	Gastric cancer	GPathogenic
Select item 1801612	NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs)	MUTYH (D61fs +5 more)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1801611	NM_007194.4(CHEK2):c.468del (p.Ser155_Tyr156insTer)	CHEK2	Deletion (nonsense +2 more)	Gastric cancer	GPathogenic
Select item 1801610	NM_032043.3(BRIP1):c.2300_2303del (p.Glu767fs)	BRIP1 (E767fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801609	NM_007294.4(BRCA1):c.603del (p.Gln202fs)	BRCA1 (Q155fs +1 more)	Deletion (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 1801608	NM_024675.4(PALB2):c.659del (p.Ser220fs)	PALB2 (S220fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801607	NM_000059.4(BRCA2):c.6620_6623del (p.Thr2207fs)	BRCA2 (T2207fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1801606	NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)	BRCA2 (C2117fs)	Deletion (frameshift variant)	Gastric cancer +1 more	GPathogenic
Select item 1801605	NM_000059.4(BRCA2):c.6656C>A (p.Ser2219Ter)	BRCA2 (S2219*)	Single nucleotide variant (nonsense)	Gastric cancer	GPathogenic
Select item 1801604	NM_000059.4(BRCA2):c.4888del (p.Ser1630fs)	BRCA2 (S1630fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1801603	NM_000059.4(BRCA2):c.2950del (p.Glu984fs)	BRCA2 (E984fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801602	NM_000051.4(ATM):c.6164del (p.Ile2055fs)	ATM, C11orf65 (I2055fs)	Deletion (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 1801601	NM_000465.4(BARD1):c.1903+1del	BARD1	Deletion (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 1801600	NM_002354.3(EPCAM):c.11del (p.Pro4fs)	EPCAM (P4fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801599	NM_007194.4(CHEK2):c.712_713dup (p.Glu239fs)	CHEK2 (E172fs +3 more)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801598	NM_032043.3(BRIP1):c.220dup (p.Glu74fs)	BRIP1 (E74fs)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801597	NM_032043.3(BRIP1):c.2823_2826dup (p.Val943fs)	BRIP1 (V943fs)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801596	NM_032043.3(BRIP1):c.3592dup (p.Ile1198fs)	BRIP1 (I1198fs)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801595	NM_058216.3(RAD51C):c.114_117dup (p.Glu40fs)	RAD51C (E40fs)	Duplication (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 1801594	NM_006361.6(HOXB13):c.760_763dup (p.Leu255fs)	HOXB13 (L255fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1801593	NM_006361.6(HOXB13):c.775dup (p.Gln259fs)	HOXB13 (Q259fs)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801592	NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)	NF1 (W1314fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1801591	NM_000546.6(TP53):c.308dup (p.Tyr103Ter)	TP53 (Y103* +1 more)	Duplication (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 1801590	NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs)	BRCA2 (T1867fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1801589	NM_000075.4(CDK4):c.279dup (p.Glu94Ter)	CDK4 (E94*)	Duplication (nonsense)	Gastric cancer	GPathogenic
Select item 1801588	NM_000051.4(ATM):c.6820dup (p.Ala2274fs)	ATM, C11orf65 (A2274fs)	Duplication (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 1801587	NM_000051.4(ATM):c.5674+1G>A	ATM	Single nucleotide variant (splice donor variant)	Gastric cancer	GPathogenic
Select item 1801586	NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)	ATM (N1793fs)	Microsatellite (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801585	NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)	ATM (D1630fs)	Duplication (frameshift variant)	Gastric cancer	GPathogenic
Select item 1801584	NM_000051.4(ATM):c.2554dup (p.Gln852fs)	ATM (Q852fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1801583	NM_000314.8(PTEN):c.370dup (p.Cys124fs)	PTEN (C124fs +1 more)	Duplication (frameshift variant +1 more)	Gastric cancer	GPathogenic

<< First< Prev

Page of 7