ClinVar for PubMed (Select 17576681) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3248453	NC_000019.9:g.(?_44011044)_(44014899_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248420	NC_000019.9:g.(?_1223158)_(1224401_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GUncertain significance
Select item 3248258	NC_000020.10:g.(?_62038255)_(62077133_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248257	NC_000020.10:g.(?_62027833)_(62045450_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248085	NC_000001.10:g.(?_216591882)_(216592022_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3247645	NC_000001.10:g.(?_100661892)_(100681288_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247231	NC_000002.11:g.(?_219754812)_(219757475_?)del	WNT10A	Deletion	Odonto-onycho-dermal dysplasia +1 more	GPathogenic
Select item 3247082	NC_000022.10:g.(?_51063654)_(51064566_?)del	ARSA	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3246779	NC_000004.11:g.(?_110789093)_(110790126_?)del	LRIT3	Deletion	not provided	GUncertain significance
Select item 3246735	NC_000004.11:g.(?_155665577)_(155668060_?)del	LRAT	Deletion	not provided	GPathogenic
Select item 3246666	NC_000004.11:g.(?_3488757)_(3495159_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 3246388	NC_000005.9:g.(?_112168952)_(112177247_?)del	APC	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 3246382	NC_000005.9:g.(?_112172329)_(112173920_?)del	APC	Deletion	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3246018	NC_000006.11:g.(?_33406026)_(33416171_?)del	SYNGAP1	Deletion	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 3245798	NC_000007.13:g.(?_130038777)_(130039476_?)del	CEP41	Deletion	Joubert syndrome 15	GUncertain significance
Select item 3245786	NC_000007.13:g.(?_99699407)_(99704283_?)del	AP4M1, MCM7	Deletion	Hereditary spastic paraplegia 50	GPathogenic
Select item 3245415	NC_000008.10:g.(?_65509233)_(65510812_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245388	NC_000009.11:g.(?_2718171)_(2729909_?)del	KCNV2	Deletion	not provided	GPathogenic
Select item 3245280	NC_000009.11:g.(?_124092234)_(124094793_?)del	GSN	Deletion	not provided	GUncertain significance
Select item 3245169	NC_000023.10:g.(?_153296180)_(153302766_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245147	NC_000023.10:g.(?_153296136)_(153302300_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245102	NC_000023.10:g.(?_153296084)_(153300925_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245070	NC_000023.10:g.(?_153296083)_(153297178_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3244673	NC_000023.10:g.(?_71800904)_(71804307_?)del	PHKA1	Deletion	Glycogen storage disease IXd	GUncertain significance
Select item 3244634	NC_000011.9:g.(?_88027619)_(88030969_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244627	NC_000011.9:g.(?_2186110)_(2187232_?)del	TH	Deletion	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3244552	NC_000011.9:g.(?_64567607)_(64572007_?)del	MAP4K2, MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244188	NC_000013.10:g.(?_32946992)_(32972329_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243819	NC_000015.9:g.(?_73615988)_(73617901_?)del	HCN4	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243420	NC_000016.9:g.(?_9857612)_(9865030_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243298	NC_000016.9:g.(?_89805097)_(89808330_?)del	FANCA, ZNF276	Deletion	Fanconi anemia	GPathogenic
Select item 3242935	NC_000017.10:g.(?_3397734)_(3400388_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242917	NC_000017.10:g.(?_78180679)_(78182040_?)del	CARD14	Deletion	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 3024003	NM_000094.4(COL7A1):c.2710+3G>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023828	NM_006206.6(PDGFRA):c.2324-3C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3023823	NM_014989.7(RIMS1):c.3737+6T>A	RIMS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023789	NM_172362.3(KCNH1):c.1032+5A>C	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023757	NM_004985.5(KRAS):c.450+3A>G	KRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3023729	NM_001184900.3(CARD8):c.59G>A (p.Arg20Gln)	CARD8 (R20Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3023617	NM_001318895.3(FHL2):c.331+6G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3023614	NM_000135.4(FANCA):c.2151+4G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3023574	NM_031418.4(ANO3):c.1155-3C>T	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 3023560	NM_002470.4(MYH3):c.2925+3A>G	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023442	NM_001852.4(COL9A2):c.684G>A (p.Pro228=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3023266	NM_000190.4(HMBS):c.423-3C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023226	NM_001287.6(CLCN7):c.213G>A (p.Pro71=)	CLCN7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3022959	NM_001330700.2(TOP2B):c.1800+6C>T	TOP2B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3022931	NM_033163.5(FGF8):c.33-3C>T	FGF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022895	NM_004260.4(RECQL4):c.1704+3G>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome	GUncertain significance
Select item 3022769	NM_001042492.3(NF1):c.7457+5G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3022721	NM_001130823.3(DNMT1):c.2117+4G>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3022704	NM_001457.4(FLNB):c.787G>A (p.Gly263Arg)	FLNB (G263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022701	NM_024408.4(NOTCH2):c.1264+3G>A	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3022692	NM_003079.5(SMARCE1):c.52-3C>T	SMARCE1	Single nucleotide variant (intron variant)	Familial meningioma +1 more	GUncertain significance
Select item 3022687	NM_000094.4(COL7A1):c.5155-17_5155-16delinsTT	COL7A1	Indel (intron variant)	not provided	GUncertain significance
Select item 3022668	NM_006516.4(SLC2A1):c.517-3C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3022663	NM_000314.8(PTEN):c.80-3C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3022547	NM_000127.3(EXT1):c.1883+6del	EXT1	Deletion (intron variant)	Multiple congenital exostosis	GUncertain significance
Select item 3022447	NM_052867.4(NALCN):c.4755+3G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022142	NM_001037333.3(CYFIP2):c.2265+3A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022123	NM_002637.4(PHKA1):c.2526+6A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3022118	NM_172362.3(KCNH1):c.440-3C>T	KCNH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021925	NM_006182.4(DDR2):c.417G>A (p.Gln139=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3021853	NM_005120.3(MED12):c.3354+6A>C	MED12	Single nucleotide variant (intron variant)	FG syndrome	GUncertain significance
Select item 3021788	NM_002878.4(RAD51D):c.738G>C (p.Val246=)	RAD51D, RAD51L3-RFFL	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GUncertain significance
Select item 3021786	NM_002473.6(MYH9):c.3630+5G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021647	NM_000051.4(ATM):c.7089+5G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3021529	NM_000540.3(RYR1):c.10626+5C>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GUncertain significance
Select item 3021233	NM_001130438.3(SPTAN1):c.1323+3A>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3021027	NM_000257.4(MYH7):c.2045-3C>G	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3020977	NM_001254.4(CDC6):c.660G>C (p.Lys220Asn)	CDC6 (K220N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020839	NM_001845.6(COL4A1):c.2968+6G>A	COL4A1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 3020739	NM_000540.3(RYR1):c.1244+6del	RYR1	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 3020725	NM_014629.4(ARHGEF10):c.193+6T>G	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020605	NM_000368.5(TSC1):c.1141+4T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GUncertain significance
Select item 3020539	NM_001290043.2(TAP2):c.1932+1G>A	TAP2	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GUncertain significance
Select item 3020526	NM_005228.5(EGFR):c.1298+3A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3020522	NM_002439.5(MSH3):c.3302+5G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020455	NM_153460.4(IL17RC):c.762+6G>T	IL17RC	Single nucleotide variant (intron variant +1 more)	Candidiasis, familial, 9	GUncertain significance
Select item 3020428	NM_002834.5(PTPN11):c.756+6T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3020401	NM_006766.5(KAT6A):c.3353-3T>C	KAT6A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020210	NM_000245.4(MET):c.1392+6T>C	MET	Single nucleotide variant (intron variant)	Renal cell carcinoma	GUncertain significance
Select item 3020159	NM_020975.6(RET):c.867+6T>C	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 3020158	NM_004304.5(ALK):c.3450+6A>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3020116	NM_025103.4(IFT74):c.256+6T>C	IFT74	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020072	NM_001003800.2(BICD2):c.2259-3C>T	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3019998	NM_004984.4(KIF5A):c.217+6A>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3019832	NM_001254.4(CDC6):c.660+5A>T	CDC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019805	NM_005228.5(EGFR):c.628+3A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3019783	NM_017617.5(NOTCH1):c.2969+2TG[3]	NOTCH1	Microsatellite (splice donor variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 3019774	NM_006231.4(POLE):c.1473+5G>A	POLE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019755	NM_004371.4(COPA):c.2476+5G>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3019657	NM_004958.4(MTOR):c.4571-3T>C	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019647	NM_004456.5(EZH2):c.2029+3_2029+25del	EZH2	Deletion (splice donor variant)	Weaver syndrome	GUncertain significance
Select item 3019625	NM_000094.4(COL7A1):c.7614G>A (p.Met2538Ile)	COL7A1 (M2538I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019598	NM_001001331.4(ATP2B2):c.2511+6A>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019548	NM_001035.3(RYR2):c.11091+5A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3019547	NM_001374828.1(ARID1B):c.2581+4C>T	ARID1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019540	NM_133642.5(LARGE1):c.408+5A>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance

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