"origin somatic"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684261	NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del)	ATAD3A	Deletion (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 91954	NM_003820.4(TNFRSF14):c.558C>G (p.Ser186Arg)	TNFRSF14 (S186R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 60728	NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)	PRDM16 (P291L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 953465	NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu)	PRDM16 (M788L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 487795	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)	KLHL21 (E167D)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 376127	NM_004958.4(MTOR):c.7514G>C (p.Arg2505Pro)	MTOR (R2505P)	Single nucleotide variant (missense variant)	Renal carcinoma	GLikely pathogenic
Select item 981176	NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	MTOR (I2501F)	Single nucleotide variant (missense variant)	CEBALID syndrome	GPathogenic
Select item 376455	NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)	MTOR (I2500M)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 376456	NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)	MTOR (I2500F)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 417724	NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln)	MTOR (L2427Q)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 417723	NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	MTOR (L2427P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156709	NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	MTOR (E2419K)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GPathogenic
Select item 520633	NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)	MTOR (S2413I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GPathogenic
Select item 376128	NM_004958.4(MTOR):c.6667C>A (p.Gln2223Lys)	MTOR (Q2223K)	Single nucleotide variant (missense variant)	Renal carcinoma	GLikely pathogenic
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376358	NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser)	MTOR (P2213S)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 446276	NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val)	MTOR (L2209V)	Single nucleotide variant (missense variant)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 981175	NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)	MTOR (I2017T)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 376131	NM_004958.4(MTOR):c.6040G>A (p.Glu2014Lys)	MTOR (E2014K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 584432	NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	MTOR (T1977I)	Single nucleotide variant (missense variant)	CEBALID syndrome +3 more	GPathogenic
Select item 376357	NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr)	MTOR (H1968Y)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 2672097	NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)	MTOR (F1472L +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome	GLikely pathogenic
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 981174	NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)	MTOR (A1519V)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 948857	NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)	MTOR (A1519T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2202023	NM_004958.4(MTOR):c.4541G>A (p.Arg1514Gln)	MTOR (R1098Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 376454	NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp)	MTOR (C1483W)	Single nucleotide variant (missense variant)	Glioblastoma +2 more	GLikely pathogenic
Select item 376453	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	MTOR (C1483Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 190121	NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)	MTOR (C1483F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 374796	NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	MTOR (C1483R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376130	NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)	MTOR (L1460P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 2672094	NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp)	MTOR (A1043D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 417727	NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly)	MTOR (W1456G)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 981173	NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)	MTOR (K1452N)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 161642	NM_005957.5(MTHFR):c.1739del (p.Phe580fs)	MTHFR (F621fs +1 more)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 222892	NM_005957.5(MTHFR):c.236+1G>A	MTHFR	Single nucleotide variant (splice donor variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 446368	NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)	MFN2 (A383del)	Microsatellite (inframe_deletion)	Neuropathy, hereditary motor and sensory, type 6A +1 more	GUncertain significance
Select item 161578	NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr)	TNFRSF8 (D91Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 221372	GRCh38/hg38 1p36.21(chr1:13272807-13275727)x1		Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1801743	NM_015001.3(SPEN):c.5197G>A (p.Ala1733Thr)	SPEN (A1733T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 221330	NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)	SPEN (Q2333fs)	Deletion (frameshift variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 13262	NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)	EPHA2 (R721Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 376146	NM_004431.5(EPHA2):c.1171G>C (p.Gly391Arg)	EPHA2 (G391R +1 more)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 259386	NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)	EPHA2 (G391R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 161534	NM_018090.5(NECAP2):c.462G>T (p.Glu154Asp)	NECAP2 (E154D +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 92011	NM_022089.4(ATP13A2):c.237C>G (p.Pro79=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 12788	NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)	SDHB (S100F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 219300	NM_018715.4(RCC2):c.782G>C (p.Cys261Ser)	RCC2 (C261S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2498248	NM_018125.4(ARHGEF10L):c.2137C>T (p.Arg713Cys)	ARHGEF10L (R416C +4 more)	Single nucleotide variant (missense variant +1 more)	Teratoma	GUncertain significance
Select item 183259	NM_032409.3(PINK1):c.799C>T (p.Gln267Ter)	PINK1, PINK1-AS (Q267*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	Gnot provided
Select item 221374	GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0	EIF4G3	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 161563	NM_001391906.1(EIF4G3):c.2710G>T (p.Asp904Tyr)	EIF4G3 (D884Y +10 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 13678	NM_000478.6(ALPL):c.648+1G>A	ALPL	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 161781	NM_032236.8(USP48):c.1243A>G (p.Met415Val)	USP48 (M415V +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 8533	NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)	EPHB2 (A279S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 8534	NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)	EPHB2 (D679N +2 more)	Single nucleotide variant (missense variant)	EPHB2-related condition +2 more	GLikely benign
Select item 8532	NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)	EPHB2 (Q723* +2 more)	Single nucleotide variant (nonsense)	Prostate cancer/brain cancer susceptibility	GPathogenic
Select item 376739	NM_017449.5(EPHB2):c.2356G>A (p.Gly786Arg)	EPHB2 (G786R +2 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine	GLikely pathogenic
Select item 8535	NM_017449.5(EPHB2):c.*187A>T	EPHB2 (K1019*)	Single nucleotide variant (3 prime UTR variant +1 more)	Prostate cancer/brain cancer susceptibility	Grisk factor
Select item 219312	NM_001004434.3(SLC30A2):c.655G>A (p.Ala219Thr)	SLC30A2 (A219T +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 221375	GRCh38/hg38 1p36.11(chr1:26519016-26520363)x0		Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 434329	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2582238	NM_006015.6(ARID1A):c.511C>T (p.Gln171Ter)	ARID1A (Q171*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 694626	NM_006015.6(ARID1A):c.681_684del (p.Ala228fs)	ARID1A, LOC129929837 (A228fs)	Deletion (frameshift variant)	Primary low grade serous adenocarcinoma of ovary	GUncertain significance
Select item 225843	NM_006015.6(ARID1A):c.1113del (p.Gln372fs)	ARID1A, LOC129929837 (Q372fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2582261	NM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter)	ARID1A (Q404*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582262	NM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter)	ARID1A (Q529*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 523633	NM_006015.6(ARID1A):c.1653C>G (p.Tyr551Ter)	ARID1A (Y551*)	Single nucleotide variant (nonsense)	Colorectal cancer	Gassociation
Select item 1327497	NM_006015.6(ARID1A):c.1803+1G>C	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 2582239	NM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter)	ARID1A (Q605*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582263	NM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter)	ARID1A (Q670*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582264	NM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter)	ARID1A (Q758*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582265	NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter)	ARID1A (Q775*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582240	NM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter)	ARID1A (Q812*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582250	NM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter)	ARID1A (Q878*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2444467	NM_006015.6(ARID1A):c.2660C>T (p.Pro887Leu)	ARID1A (P887L)	Single nucleotide variant (missense variant)	Clonal Cytopenia of Undetermined Significance	GUncertain significance
Select item 2582266	NM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter)	ARID1A (Q895*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 438751	NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)	ARID1A (R911M)	Single nucleotide variant (missense variant)	Medulloblastoma	Gother
Select item 1895433	NM_006015.6(ARID1A):c.2989-3C>G	ARID1A	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2582276	NM_006015.6(ARID1A):c.3105dup (p.Met1036fs)	ARID1A (M1036fs)	Duplication (frameshift variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 1329459	NM_006015.6(ARID1A):c.3539+1G>A	ARID1A, LOC126805670	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 225844	NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter)	ARID1A, LOC126805670 (E1227*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2582241	NM_006015.6(ARID1A):c.3988C>T (p.Gln1330Ter)	ARID1A (Q1330*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582268	NM_006015.6(ARID1A):c.4072C>T (p.Gln1358Ter)	ARID1A (Q1358*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 1301990	NM_006015.6(ARID1A):c.4101+1G>C	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1299482	NM_006015.6(ARID1A):c.4101+1G>A	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 2582269	NM_006015.6(ARID1A):c.4258C>T (p.Gln1420Ter)	ARID1A (Q1420*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582242	NM_006015.6(ARID1A):c.4372C>T (p.Gln1458Ter)	ARID1A (Q1458*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582270	NM_006015.6(ARID1A):c.4435C>T (p.Gln1479Ter)	ARID1A (Q1479*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 523173	NM_006015.6(ARID1A):c.4480C>T (p.Gln1494Ter)	ARID1A (Q1494*)	Single nucleotide variant (nonsense +1 more)	AKT1 Inhibitor response	Gdrug response
Select item 2582271	NM_006015.6(ARID1A):c.4891C>T (p.Gln1631Ter)	ARID1A (Q1414* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 1329458	NM_006015.6(ARID1A):c.4994-2A>T	ARID1A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2582272	NM_006015.6(ARID1A):c.5058G>A (p.Trp1686Ter)	ARID1A (W1469* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582256	NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)	ARID1A (Q1639* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic

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