ClinVar (all) for Orgtrack (Select 504914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590291	NM_000301.5(PLG):c.988A>G (p.Lys330Glu)	PLG (K330E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 459018	NM_006206.6(PDGFRA):c.1700_1701inv (p.Pro567Leu)	PDGFRA (P567L +2 more)	Inversion (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 441534	NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	CDKL5 (R943fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 427788	NM_000335.5(SCN5A):c.5100G>T (p.Met1700Ile)	SCN5A (M1700I +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 427787	NM_019884.3(GSK3A):c.146G>C (p.Gly49Ala)	LOC130064563, GSK3A (G49A)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 427786	NM_001144967.3(NEDD4L):c.1333C>T (p.Arg445Cys)	NEDD4L (R425C +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 421741	NM_000057.4(BLM):c.387_389del (p.Lys130del)	BLM (K130del)	Deletion (inframe_deletion +1 more)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 418036	NM_000051.4(ATM):c.5653dup (p.Thr1885fs)	ATM (T1885fs)	Duplication (frameshift variant)	Familial cancer of breast +3 more	GPathogenic
Select item 403754	NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del)	BUB1B (K540del)	Microsatellite (inframe_deletion)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 402245	NM_001737.5(C9):c.577del (p.Tyr193fs)	C9 (Y193fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 341826	NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	EP300 (Q2268del +1 more)	Deletion (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 265249	NM_005373.3(MPL):c.378del (p.Phe126fs)	MPL (F126fs)	Deletion (frameshift variant)	Essential thrombocythemia +2 more	GPathogenic
Select item 253313	NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	EP300	Deletion (inframe_indel)	not provided +4 more	GBenign/Likely benign
Select item 238517	NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])	SMARCA4	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 218138	NM_000414.4(HSD17B4):c.302+3_302+6del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 197231	NM_004260.4(RECQL4):c.275C>T (p.Ser92Phe)	RECQL4 (P92L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 193082	NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	RB1	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 183678	NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)	EP300 (R1645* +1 more)	Single nucleotide variant (nonsense)	EP300-related disorder +1 more	GPathogenic
Select item 157603	NM_002354.3(EPCAM):c.556-14A>G	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 156007	NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)	NOTCH1 (C1496Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 141667	NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)	MSH6 (G803fs +2 more)	Duplication (frameshift variant)	Endometrial carcinoma +4 more	GPathogenic
Select item 141574	NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)	APC	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135576	NM_005631.5(SMO):c.2057C>T (p.Ala686Val)	SMO (A686V)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 135575	NM_005631.5(SMO):c.1939C>T (p.Pro647Ser)	SMO (P647S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 135574	NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)	SMO (P641A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135573	NM_006164.5(NFE2L2):c.312+11C>T	NFE2L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135572	NM_006164.5(NFE2L2):c.402+8A>G	NFE2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135571	NM_006164.5(NFE2L2):c.402+13A>G	NFE2L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135570	NM_000268.4(NF2):c.1737+2098A>G	NF2	Single nucleotide variant (3 prime UTR variant +2 more)	NF2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 135569	NC_000002.12:g.47678259C>A	MSH2	Single nucleotide variant	not specified	Gnot provided
Select item 135568	NC_000002.12:g.47678251C>G	MSH2	Single nucleotide variant	not specified	Gnot provided
Select item 135567	NC_000002.12:g.47678251C>A	MSH2	Single nucleotide variant	not specified	Gnot provided
Select item 135566	NC_000002.12:g.47512394G>A	KCNK12, MSH2	Single nucleotide variant (genic downstream transcript variant)	not specified	Gnot provided
Select item 135565	NC_000002.12:g.47512385C>T	KCNK12, MSH2	Single nucleotide variant (genic downstream transcript variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 135564	NM_005373.3(MPL):c.1565+5C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +5 more	GConflicting classifications of pathogenicity
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Primary myelofibrosis +6 more	GPathogenic/Likely pathogenic
Select item 135561	NM_000249.4(MLH1):c.*32C>T	MLH1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 135560	NM_000245.4(MET):c.1965+20A>G	MET	Single nucleotide variant (intron variant)	Renal cell carcinoma	GLikely benign
Select item 135559	NM_000245.4(MET):c.1701+80dup	MET	Duplication (intron variant)	not specified	Gnot provided
Select item 135558	NM_000245.4(MET):c.1701+75T>G	MET	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135557	NM_000245.4(MET):c.1701+58_1701+59insTG	MET	Insertion (intron variant)	not specified	Gnot provided
Select item 135556	NM_000245.4(MET):c.1701+25A>G	MET	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 135555	NM_000245.4(MET):c.-14-3297G>C	MET	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135554	NM_000245.4(MET):c.-14-3314A>T	MET	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135553	NM_001370259.2(MEN1):c.-23-135G>A	MEN1	Single nucleotide variant (intron variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 135552	NM_002253.4(KDR):c.-1G>T	KDR	Single nucleotide variant (5 prime UTR variant)	KDR-related condition	GBenign
Select item 135551	NM_002253.4(KDR):c.1987+28C>T	KDR	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135550	NM_000215.4(JAK3):c.1441+262C>A	JAK3	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135549	NM_000215.4(JAK3):c.3207+73G>A	JAK3	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135548	NM_000141.5(FGFR2):c.748+18C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 135547	NM_000141.5(FGFR2):c.939+11T>C	FGFR2	Single nucleotide variant (intron variant)	Isolated coronal synostosis +5 more	GBenign/Likely benign
Select item 135546	NM_001190274.2(FBXO11):c.2227+50_2227+52del	FBXO11	Microsatellite (intron variant)	not specified	Gnot provided
Select item 135545	NM_001190274.2(FBXO11):c.2227+68del	FBXO11	Deletion (intron variant)	not specified	Gnot provided
Select item 135544	NM_004629.2(FANCG):c.-1C>T	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 135543	NM_000136.3(FANCC):c.166-2A>G	FANCC	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 135542	NM_000135.4(FANCA):c.80-13C>T	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 135541	NM_001113525.2(ZNF276):c.*1693A>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 135540	NM_001113525.2(ZNF276):c.*1689C>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 135539	NM_001113525.2(ZNF276):c.*1674G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GLikely benign
Select item 135538	NM_004456.5(EZH2):c.1240+9C>A	EZH2	Single nucleotide variant (intron variant)	EZH2-related disorder +2 more	GBenign
Select item 135537	NM_004456.5(EZH2):c.1240+48G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135536	NM_000123.4(ERCC5):c.-1C>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant +1 more)	not specified	Gnot provided
Select item 135535	NM_000123.4(ERCC5):c.-1C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135534	NM_005236.3(ERCC4):c.2017+1G>A	ERCC4	Single nucleotide variant (splice donor variant)	not specified	Gnot provided
Select item 135533	NM_000400.4(ERCC2):c.1119-194C>T	ERCC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135532	NM_000400.4(ERCC2):c.1119-173T>A	ERCC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135531	NM_000400.4(ERCC2):c.1119-146T>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135530	NM_000400.4(ERCC2):c.1119-116C>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135529	NM_000400.4(ERCC2):c.1119-102G>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135528	NM_000400.4(ERCC2):c.1119-89G>A	ERCC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135527	NM_000400.4(ERCC2):c.1119-80C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135526	NM_000400.4(ERCC2):c.1119-57dup	ERCC2	Duplication (intron variant)	not specified	Gnot provided
Select item 135525	NM_000400.4(ERCC2):c.1119-25dup	ERCC2	Duplication (intron variant)	not provided	GBenign
Select item 135524	NM_000400.4(ERCC2):c.1119-19C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135523	NM_000400.4(ERCC2):c.1119-5G>A	ERCC2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 135522	NM_004448.4(ERBB2):c.1021+48C>T	ERBB2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135521	NM_004448.4(ERBB2):c.1021+31C>T	ERBB2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135520	NM_004448.4(ERBB2):c.1021+19C>T	ERBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135519	NM_001289936.2(ERBB2):c.22C>A (p.Pro8Thr)	ERBB2 (P8T)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135518	NM_005228.5(EGFR):c.3271+81C>T	EGFR (Q1073* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	Gnot provided
Select item 135517	NM_005228.5(EGFR):c.3271+42T>G	EGFR (S1060A +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related disorder	GUncertain significance
Select item 135516	NM_005228.5(EGFR):c.2061+2T>C	EGFR	Single nucleotide variant (splice donor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 135515	NM_001077706.3(ECT2L):c.1579-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 135514	NM_001077706.3(ECT2L):c.1070-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 135513	NM_177438.3(DICER1):c.5095+13C>T	DICER1	Single nucleotide variant (intron variant)	Pleuropulmonary blastoma +3 more	GBenign/Likely benign
Select item 135512	NM_000107.3(DDB2):c.128-66C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135511	NM_000107.3(DDB2):c.128-84T>G	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135510	NM_001378743.1(CYLD):c.2041+50C>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135509	NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg)	CBLB (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135508	NM_170662.5(CBLB):c.-14-1G>T	CBLB	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 135507	NM_000545.8(HNF1A):c.1624-29G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135506	NM_000545.8(HNF1A):c.1624-30C>T	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135505	NM_000545.8(HNF1A):c.1623+29T>C	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GBenign
Select item 135504	NM_000545.8(HNF1A):c.1623+23C>T	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135503	NM_000545.8(HNF1A):c.1309+247G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135502	NM_000545.8(HNF1A):c.1309+238G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135501	NM_000545.8(HNF1A):c.1309+187T>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 135500	NM_000545.8(HNF1A):c.1309+184dup	HNF1A	Duplication (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 135499	NM_000545.8(HNF1A):c.1309+86TCAT[7]	HNF1A	Microsatellite (intron variant)	not specified	Gnot provided
Select item 135498	NM_000545.8(HNF1A):c.1309+86TCAT[5]	HNF1A	Microsatellite (intron variant)	not specified	Gnot provided

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