ClinVar (all) for Orgtrack (Select 506026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988581	NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)	MUTYH (H305N +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 987979	NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)	EXT1 (R605Q)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 987978	NM_000143.4(FH):c.1243A>G (p.Asn415Asp)	FH (N415D)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 834050	NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu)	BRCA2 (V875L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 802741	NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)	ATM (Q414K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 800229	NM_001184.4(ATR):c.1411G>C (p.Glu471Gln)	ATR (E471Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690302	NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)	SLX4 (C1805R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 690301	NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr)	WRAP53 (A280T)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 690300	NM_032444.4(SLX4):c.2320G>T (p.Ala774Ser)	SLX4 (A774S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 690294	NM_005431.2(XRCC2):c.268C>T (p.Leu90Phe)	XRCC2 (L90F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 690293	NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)	BRCA2 (D878H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 690290	NM_032444.4(SLX4):c.4423A>G (p.Thr1475Ala)	SLX4 (T1475A)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 690288	NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)	FANCI (S1211F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 690287	NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)	FANCB (T494A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 689657	NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)	ATM, C11orf65 (N2501K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 689656	NM_001184.4(ATR):c.1602G>C (p.Trp534Cys)	ATR (W470C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 662455	NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)	BRCA1 (C1740Y +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 652229	NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)	ATM (S474N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 619079	NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)	ZEB2 (E235* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 546002	NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)	BRCA2 (L1669*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 486313	NM_020975.6(RET):c.20G>A (p.Gly7Asp)	LOC106736614, RET (G7D)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 480057	NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)	NBN (W501* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +3 more	GPathogenic/Likely pathogenic
Select item 479450	NM_032043.3(BRIP1):c.917dup (p.Asn306fs)	BRIP1 (N306fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 475242	NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)	PRKDC (G3149D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +2 more	GBenign/Likely benign
Select item 460986	NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)	PALB2 (V1103fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 460961	NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)	PALB2 (I941V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 459424	NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp)	RECQL4 (R902W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 441405	NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser)	BRCA2 (A2951S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 440474	NM_007294.4(BRCA1):c.4358-2A>G	BRCA1	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 437071	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	TSHR (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 430181	NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)	MC1R (C35Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +4 more	GUncertain significance
Select item 419386	NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)	MUTYH (R185W +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 418759	NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)	BRCA2 (K1517fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 416460	NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)	MLH3 (M809V)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 415218	NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)	AXIN2 (A695S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 412213	NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)	NF2 (F592L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 410166	NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)	PALB2 (K311fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 405886	NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)	POLE (A1885T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379486	NM_001184.4(ATR):c.992A>G (p.Asp331Gly)	ATR (D331G)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 377283	NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)	TSC1 (S530T +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 356444	NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)	FANCE (P85S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328033	NM_003072.5(SMARCA4):c.3547-11T>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 323423	NM_007294.4(BRCA1):c.-86C>T	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289690	NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)	RECQL4 (S862L)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 283154	NM_001365951.3(KIF1B):c.2115+6956A>G	KIF1B (E1006G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLH (G209V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 254417	NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)	BRCA1 (T837fs +20 more)	Insertion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 246611	NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	FANCB (F590S)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +6 more	GConflicting classifications of pathogenicity
Select item 242037	NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)	DICER1 (I461V)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 241689	NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	SLX4 (G141W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 241677	NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)	SLX4 (P975L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GBenign/Likely benign
Select item 238447	NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)	SMARCA4 (P135A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 236835	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2 (Q699*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 233576	NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)	ATM (Y1124F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 225516	NM_001143992.2(WRAP53):c.1564del (p.Ala522fs)	WRAP53 (A522fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 221038	NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)	POLD1 (V759I +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 187486	NM_000249.4(MLH1):c.954C>A (p.His318Gln)	MLH1 (H318Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 186751	NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)	CHEK2 (K141T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 184146	NM_003001.5(SDHC):c.490A>T (p.Met164Leu)	SDHC (M164L +10 more)	Single nucleotide variant (missense variant)	Paragangliomas 3 +6 more	GConflicting classifications of pathogenicity
Select item 182452	NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	CHEK2 (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	CHEK2-related cancer predisposition +8 more	GPathogenic
Select item 142524	NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	CHEK2 (G167R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +7 more	GPathogenic/Likely pathogenic
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 140810	NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)	MSH2 (P259S +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 135449	NM_000553.6(WRN):c.970A>G (p.Thr324Ala)	WRN (T324A)	Single nucleotide variant (missense variant)	Werner syndrome +3 more	GBenign/Likely benign
Select item 134992	NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)	PALB2 (L278H)	Indel (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 134349	NM_022725.4(FANCF):c.557C>T (p.Ala186Val)	FANCF (A186V)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GBenign/Likely benign
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	FANCD2, LOC107303338 (P593S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 134294	NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)	FANCA (T266A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 128195	NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	BRIP1 (R264W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128077	NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)	CHEK2 (I160M +1 more)	Single nucleotide variant (missense variant +2 more)	CHEK2-related cancer predisposition +5 more	GConflicting classifications of pathogenicity
Select item 128056	NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	CHEK2 (D438Y +4 more)	Single nucleotide variant (missense variant)	CHEK2-related cancer predisposition +10 more	GConflicting classifications of pathogenicity
Select item 127944	NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)	AXIN2 (S762N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127737	NM_000465.4(BARD1):c.33G>T (p.Gln11His)	BARD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127700	NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	STK11 (S404F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Inherited ovarian cancer (without breast cancer) +6 more	GConflicting classifications of pathogenicity
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126669	NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	PALB2 (P864S)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 126630	NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)	PALB2 (E672Q)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 91733	NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)	BRCA2 (D2900V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 91641	NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys)	BRCA1 (E1731K +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55580	NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1 (W1815* +80 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54896	NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)	BRCA1, LOC126862571 (I1112fs +21 more)	Deletion (intron 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 54750	NM_007294.4(BRCA1):c.302-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
Select item 52785	NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52562	NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)	BRCA2 (R2787C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52388	NM_000059.4(BRCA2):c.7689del (p.His2563fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52050	NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51584	NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51121	NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	BRCA2 (Q472*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41845	NM_020975.6(RET):c.785T>C (p.Val262Ala)	RET (V262A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 41830	NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	BRCA1 (M1652I +76 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41827	NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)	BRCA1 (S1613G +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41815	NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)	BRCA1 (E1038G +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41803	NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	BRCA1 (Q356R +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

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