ClinVar for PubMed (Select 28873162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1778029	NM_032043.3(BRIP1):c.1686T>G (p.Ile562Met)	BRIP1 (I562M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1476584	NM_004360.5(CDH1):c.716G>A (p.Gly239Glu)	CDH1 (G239E)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 1432638	NM_007194.4(CHEK2):c.16del (p.Asp6fs)	CHEK2 (D6fs)	Deletion (frameshift variant +1 more)	CHEK2-related condition +2 more	GPathogenic
Select item 995910	NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)	RB1 (K765*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995909	NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)	RB1 (E746fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995908	NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)	RB1 (Q770*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995907	NM_000321.3(RB1):c.-206_-189del	RB1, RB1-DT	Deletion	Retinoblastoma	GLikely pathogenic
Select item 995906	NM_000321.3(RB1):c.840dup (p.His281fs)	RB1 (H281fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995905	NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)	RB1 (L523*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995904	NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	PHOX2B, PHOX2B-AS1	Deletion (nonsense)	Congenital central hypoventilation	GPathogenic
Select item 995903	NM_024675.4(PALB2):c.108+2T>C	PALB2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 995902	NM_000268.4(NF2):c.1613dup (p.Leu539fs)	NF2 (L456fs +3 more)	Duplication (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 995901	NM_000268.4(NF2):c.470_479dup (p.Gly161fs)	NF2 (G119fs +3 more)	Duplication (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 995900	NM_001042492.3(NF1):c.4388del (p.Pro1463fs)	NF1 (P1442fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 995899	NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)	NF1 (S1078fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 995898	NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)	NF1 (L1607fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 995897	NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)	SMARCB1 (R149* +1 more)	Single nucleotide variant (nonsense)	Rhabdoid tumor predisposition syndrome 1 +2 more	GPathogenic
Select item 995895	NM_000135.4(FANCA):c.4011-3_4011-2del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GLikely pathogenic
Select item 995893	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	ERCC3 (R388* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995892	NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs)	CDKN2A (A111fs +2 more)	Duplication (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely pathogenic
Select item 995891	NM_007294.4(BRCA1):c.3016del (p.His1006fs)	BRCA1 (H1006fs +20 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic
Select item 995890	NM_000321.3(RB1):c.1206C>T (p.Ser402=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 995889	NM_000321.3(RB1):c.939+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 995888	NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)	RB1 (S811fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995887	NM_000321.3:c.2265_2343delinsAT	RB1	Indel	Retinoblastoma	GLikely pathogenic
Select item 995886	NM_000321.3(RB1):c.2325+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 995885	NM_000321.3(RB1):c.2520+6T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely pathogenic
Select item 995884	NM_000321.3(RB1):c.719-1_719delinsAG	RB1	Indel (splice acceptor variant)	Retinoblastoma	GLikely pathogenic
Select item 995883	NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)	RB1	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995882	NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)	RB1 (K713fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995881	NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)	RB1 (L586fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995880	NM_000321.3(RB1):c.1333-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 974247	NM_000135.4(FANCA):c.2604_2609del	FANCA, LOC130059837	Microsatellite (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 971555	NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr)	BRCA1 (A1569T +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 964439	NM_016169.4(SUFU):c.625C>T (p.His209Tyr)	SUFU (H209Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 863644	NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)	RECQL4 (L927R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 821155	NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)	RB1	Duplication (nonsense +1 more)	Retinoblastoma +1 more	GPathogenic
Select item 820573	NM_005732.4(RAD50):c.203A>G (p.His68Arg)	RAD50 (H68R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 801040	NM_000038.6(APC):c.6230C>T (p.Thr2077Ile)	APC (T1794I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 738974	NM_004260.4(RECQL4):c.1238C>G (p.Ala413Gly)	RECQL4 (A413G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 706532	NM_004260.4(RECQL4):c.1237G>A (p.Ala413Thr)	RECQL4 (A413T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 663612	NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)	SMARCA4 (P153L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 660662	NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)	MLH1 (Q104* +5 more)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GPathogenic
Select item 656669	NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)	SDHA (W541* +2 more)	Single nucleotide variant (nonsense)	Paragangliomas 5 +2 more	GConflicting classifications of pathogenicity
Select item 648619	NM_000051.4(ATM):c.390T>G (p.Asp130Glu)	ATM (D130E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 648498	NM_002439.5(MSH3):c.1341-1G>T	MSH3	Single nucleotide variant (splice acceptor variant)	Endometrial carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 640295	NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	RB1 (E545fs)	Deletion (frameshift variant)	Retinoblastoma +1 more	GPathogenic
Select item 640023	NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)	PALB2 (Q377*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 639998	NM_144997.7(FLCN):c.1202G>A (p.Arg401His)	FLCN (R401H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 630432	NM_000059.4(BRCA2):c.7444A>G (p.Thr2482Ala)	BRCA2 (T2482A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 620624	NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)	LOC100507346, PTCH1 (V621M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Acute myeloid leukemia +4 more	GConflicting classifications of pathogenicity
Select item 580814	NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)	BARD1 (K371* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +1 more	GPathogenic
Select item 577600	NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)	BLM (S622P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 567819	NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)	ATM (S1232P)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 567661	NM_003072.5(SMARCA4):c.1765G>A (p.Ala589Thr)	SMARCA4 (A589T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 547041	NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	RECQL4	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 545889	NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)	SMARCA4 (K586fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 539199	NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)	TERT (R743Q)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 524375	NM_000051.4(ATM):c.2603A>G (p.Asp868Gly)	ATM (D868G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 496506	NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)	LOC129390903, RAD51C (L201V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 490807	NM_004656.4(BAP1):c.1715C>T (p.Pro572Leu)	BAP1 (P572L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 490082	NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu)	PALB2 (G1068E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 489474	NM_000038.6(APC):c.5974C>T (p.Pro1992Ser)	APC (P1974S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 487017	NM_000249.4(MLH1):c.217C>G (p.Leu73Val)	MLH1 (L73V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 486185	NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys)	PTCH1 (S1331C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 483851	NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)	MSH6 (Q1155* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 483235	NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala)	CDH1 (T474A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 482787	NM_000465.4(BARD1):c.425C>T (p.Ser142Leu)	BARD1 (S142L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482316	NM_000038.6(APC):c.5914C>T (p.Leu1972Phe)	APC (L1954F +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 482282	NM_000038.6(APC):c.7147G>C (p.Gly2383Arg)	APC (G2365R +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 481882	NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)	NF1 (Q162*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 472288	NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA (E490* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 470468	NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)	SMARCA4 (P305L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 468097	NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)	TSC2 (F1509L +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 464690	NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)	MUTYH (Y436fs +6 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 460961	NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)	PALB2 (I941V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 459307	NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)	RECQL4 (C389fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 458120	NM_000321.3(RB1):c.1333-2A>G	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 454204	NM_000245.4(MET):c.1988C>T (p.Ser663Leu)	MET (S663L +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 434027	NM_000535.7(PMS2):c.538-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 429062	NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)	ATM, C11orf65 (W2960*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic
Select item 428369	NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)	MSH6 (P163fs +1 more)	Indel (frameshift variant +1 more)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 422610	NM_000038.6(APC):c.2360G>A (p.Ser787Asn)	APC (S769N +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 418758	NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)	PMS2 (Q317K +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 412753	NM_032638.5(GATA2):c.230-12_230-9del	GATA2	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 412432	NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys)	BAP1 (E406K)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412143	NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu)	DICER1 (K1680E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 411375	NM_000038.6(APC):c.343A>G (p.Met115Val)	APC (M115V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408603	NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)	SMARCA4 (A227T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408458	NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)	MSH2 (R243W +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 407056	NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)	SDHC (S88L +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 406824	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	MUTYH (Q414* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 405705	NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)	POLE (G2092S)	Single nucleotide variant (missense variant)	POLE-related condition +2 more	GConflicting classifications of pathogenicity
Select item 404370	NM_004304.5(ALK):c.2554A>G (p.Lys852Glu)	ALK (K852E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 376575	NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	TP53 (C106S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 348809	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	LOC110011216, PHOX2B (A258E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 302481	NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SDHD (A18V)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +8 more	GConflicting classifications of pathogenicity
Select item 279889	NM_003002.4(SDHD):c.53dup (p.Leu19fs)	SDHD (L19fs)	Duplication (frameshift variant +2 more)	not provided +5 more	GPathogenic
Select item 265571	NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)	PALB2 (C1078*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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