ClinVar for MedGen (Select 146260) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431791	NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)	PTCH2 (S1195F)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 2430159	NM_000546.6(TP53):c.398T>A (p.Met133Lys)	TP53 (M133K +2 more)	Single nucleotide variant (missense variant +2 more)	Breast carcinoma	GLikely pathogenic
Select item 1683512	NM_000535.7(PMS2):c.834T>A (p.His278Gln)	PMS2 (H143Q +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 1453185	NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)	CHEK2 (W114* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1436165	NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)	PTCH2 (Q361*)	Single nucleotide variant (nonsense)	Breast carcinoma +2 more	GUncertain significance
Select item 1320031	NM_001122955.3(BSCL2):c.-291G>A	BSCL2, GNG3 +1 more	Single nucleotide variant (intron variant)	Reduced delayed hypersensitivity +2 more	GPathogenic
Select item 1320030	NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp)	ABCA1 (R672W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264325	NM_004360.5(CDH1):c.451del (p.Arg151fs)	CDH1 (R151fs)	Deletion (frameshift variant +1 more)	Breast carcinoma	GLikely pathogenic
Select item 1260482	NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	MRE11 (V367fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 1256050	NM_005431.2(XRCC2):c.347_350del (p.Phe116fs)	XRCC2 (F116fs)	Deletion (frameshift variant)	Breast carcinoma	GLikely pathogenic
Select item 1256049	NM_007194.4(CHEK2):c.660_661del (p.Ile221fs)	CHEK2 (I221fs +1 more)	Deletion (frameshift variant +2 more)	Breast carcinoma	GLikely pathogenic
Select item 1244226	NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs)	ATM, C11orf65 (Y2281fs)	Deletion (frameshift variant +1 more)	Breast carcinoma	GLikely pathogenic
Select item 1244225	NM_000051.4(ATM):c.6527del (p.Leu2176fs)	ATM, C11orf65 (L2176fs)	Deletion (frameshift variant +1 more)	Breast carcinoma	GPathogenic
Select item 1244223	NM_007194.4(CHEK2):c.701_720del (p.Val234fs)	CHEK2 (V13fs +3 more)	Deletion (frameshift variant)	Breast carcinoma	GLikely pathogenic
Select item 1244222	NM_007294.4(BRCA1):c.1061del (p.Asn354fs)	BRCA1 (N307fs +20 more)	Deletion (frameshift variant +1 more)	Breast carcinoma	GLikely pathogenic
Select item 1244219	NM_032043.3(BRIP1):c.1201del (p.Cys401fs)	BRIP1 (C401fs)	Deletion (frameshift variant)	Breast carcinoma	GLikely pathogenic
Select item 1224549	NM_032043.3(BRIP1):c.918+2_918+3del	BRIP1	Deletion (splice donor variant)	Breast carcinoma	GLikely pathogenic
Select item 1210127	NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer)	BRCA2	Deletion (nonsense)	Breast carcinoma	GLikely pathogenic
Select item 1210124	NM_000051.4(ATM):c.2839-3_2841del	ATM	Deletion (splice acceptor variant)	Breast carcinoma	GLikely pathogenic
Select item 1210123	NM_007294.4(BRCA1):c.2756del (p.Pro919fs)	BRCA1 (P872fs +20 more)	Deletion (frameshift variant +1 more)	Breast carcinoma	GLikely pathogenic
Select item 1210122	NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)	BRCA1 (T327fs +20 more)	Insertion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely pathogenic
Select item 1209850	NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)	RAD51C (E303*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O	GPathogenic
Select item 1209849	NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)	ATM, C11orf65 (K2318fs)	Deletion (frameshift variant +1 more)	Breast carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 1209848	NM_000535.7(PMS2):c.683del (p.Gly228fs)	PMS2 (G122fs +3 more)	Deletion (frameshift variant +3 more)	Breast carcinoma	GLikely pathogenic
Select item 1195888	NM_000059.4(BRCA2):c.1013del (p.Ala338fs)	BRCA2 (A338fs)	Deletion (frameshift variant)	Breast carcinoma	GPathogenic
Select item 1195872	NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter)	BRCA2 (K503*)	Single nucleotide variant (nonsense)	Breast carcinoma	GPathogenic
Select item 1195871	NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)	PTEN (Y241* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome +1 more	GPathogenic
Select item 1195870	NM_000535.7(PMS2):c.23+1G>A	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely pathogenic
Select item 1192532	NM_024675.4(PALB2):c.1389dup (p.Arg464Ter)	PALB2 (R464*)	Duplication (nonsense)	Breast carcinoma	GLikely pathogenic
Select item 1192527	NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs)	BRCA2 (L2999fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1192524	NM_007294.4(BRCA1):c.473_547+288del	BRCA1	Deletion (splice donor variant +1 more)	Breast carcinoma	GLikely pathogenic
Select item 1192523	NM_024675.4(PALB2):c.3070del (p.Glu1024fs)	PALB2 (E1024fs)	Deletion (frameshift variant)	Breast carcinoma	GLikely pathogenic
Select item 1192513	NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)	ATM, C11orf65 (L2475*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1192501	NM_032043.3(BRIP1):c.507+1G>T	BRIP1	Single nucleotide variant (splice donor variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 1184266	NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)	C11orf65, ATM (I2861T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1180448	NM_000059.4(BRCA2):c.643del (p.Glu215fs)	BRCA2 (E215fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1177528	NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs)	BRCA2 (V2545fs)	Deletion (frameshift variant)	Breast carcinoma	GPathogenic
Select item 1039584	NM_020975.6(RET):c.50T>C (p.Leu17Pro)	RET (L17P)	Single nucleotide variant (missense variant)	Family history of cancer +2 more	GUncertain significance
Select item 983056	NM_000251.3(MSH2):c.942+14_942+29del	MSH2	Deletion (intron variant)	Breast carcinoma +1 more	GBenign/Likely benign
Select item 982977	NM_000251.3(MSH2):c.1661+3T>G	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 982614	NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser)	PTCH1 (T845S +4 more)	Single nucleotide variant (missense variant +1 more)	Breast carcinoma	GUncertain significance
Select item 936134	NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)	ATM (Q1919*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 927272	NM_001048174.2(MUTYH):c.378+1G>T	MUTYH	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 918487	NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)	BRCA2 (S455*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 850102	NM_000249.4(MLH1):c.393del (p.Asp132fs)	MLH1 (D99fs +2 more)	Deletion (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 847035	NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)	ATM (L1340*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 837250	NM_007294.4(BRCA1):c.2802del (p.Asp936fs)	BRCA1 (D936fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 824376	NM_000038.6(APC):c.391A>G (p.Thr131Ala)	APC (T72A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 822183	NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala)	LOC130002133, PTCH1 (G37A)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 801683	NM_000251.3(MSH2):c.942+22_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 689538	NM_000059.4(BRCA2):c.6841+2T>G	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 665601	NM_000465.4(BARD1):c.1903+2T>C	BARD1	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 649280	NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)	NBN (Y240* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 647116	NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)	ATM (W1461*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 637013	NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs)	BRCA2 (T2199fs)	Indel (frameshift variant)	Breast carcinoma	GPathogenic
Select item 630765	NM_000546.6(TP53):c.672+1G>T	TP53	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 584461	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM (Y370*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 565544	NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	MSH2 (V161A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 560366	NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu)	BRCA1 (S1041L +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 560365	NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)	CDH1 (E497K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 530740	NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)	NBN (K385fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +2 more	GPathogenic
Select item 523534	NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)	PALB2 (T533A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 518526	NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)	CACNA2D1 (D550Y +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +6 more	GConflicting classifications of pathogenicity
Select item 495093	NM_007294.4(BRCA1):c.4818del (p.Val1607fs)	BRCA1 (V1560fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 492702	NM_000251.3(MSH2):c.1386+23T>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +5 more	GBenign/Likely benign
Select item 489929	NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)	MSH2 (T677A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484641	NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter)	RAD50 (Q672*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic
Select item 481065	NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)	ATM (R692L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 475094	NM_015450.3(POT1):c.702+8_702+9delinsTG	POT1	Indel (intron variant)	Tumor predisposition syndrome 3 +1 more	GBenign/Likely benign
Select item 461056	NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)	BRIP1 (G344E)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 461044	NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	BRIP1 (I983fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 460908	NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)	PALB2 (K569fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 433836	NM_000059.4(BRCA2):c.9118-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Malignant tumor of breast +1 more	GPathogenic
Select item 430591	NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	BRIP1 (Y748*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 428307	NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)	MSH6	Deletion (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 419767	NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)	MSH6 (F1323L +2 more)	Single nucleotide variant (missense variant)	not provided +5 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)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 418871	NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)	MSH6 (S1246fs +2 more)	Duplication (frameshift variant)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 410166	NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)	PALB2 (K311fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 410139	NM_024675.4(PALB2):c.557dup (p.Asn186fs)	PALB2 (N186fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 374072	NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr)	MLH3 (A1012T)	Single nucleotide variant (missense variant)	Breast carcinoma	GUncertain significance
Select item 336428	NM_000251.3(MSH2):c.942+26_942+29del	MSH2	Deletion (intron variant)	Breast carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 280750	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)	BRCA2 (C1853fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267704	NM_000059.4(BRCA2):c.8754+1G>T	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 266950	NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)	BRCA2 (Q2160*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266579	NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)	BRCA1	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 266434	NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)	BRCA1, LOC126862571 (N1354fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 266276	NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter)	BRCA1 (E846* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 265585	NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	ATM (Q65*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 240758	NM_007194.4(CHEK2):c.847-1G>A	CHEK2	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 237391	NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)	MSH2 (M899I +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 236923	NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)	BRCA2 (G2961S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 236829	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2 (Q397*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231449	NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	MRE11 (R483*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 230843	NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)	ATM (G833*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 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 215997	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	TP53 (C143Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 215471	NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)	BARD1 (V488M +1 more)	Inversion (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 187416	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	BRIP1 (K998fs)	Deletion (frameshift variant)	Neoplasm of ovary +5 more	GConflicting classifications of pathogenicity

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