ClinVar (all) for Orgtrack (Select 506081) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 1180

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899263	NM_001039591.3(USP9X):c.6923_6929del (p.Trp2308fs)	USP9X (W2308fs +1 more)	Deletion (frameshift variant)	USP9X-related disorder	GPathogenic
Select item 3899262	NM_001039591.3(USP9X):c.6916del (p.Cys2306fs)	USP9X (C2306fs +1 more)	Deletion (frameshift variant)	USP9X-related disorder	GPathogenic
Select item 3899261	GRCh37/hg19 14q12(chr14:32317254-32323465)x1	NUBPL	Copy number loss	Mitochondrial complex 1 deficiency, nuclear type 21	GLikely pathogenic
Select item 3773870	NM_005515.4(MNX1):c.625C>T (p.Gln209Ter)	MNX1 (Q209*)	Single nucleotide variant (nonsense)	Currarino triad	GLikely pathogenic
Select item 3773869	NM_001267550.2(TTN):c.80931del (p.Gly26978fs)	TTN, TTN-AS1 (G17913fs +5 more)	Deletion (frameshift variant)	TTN-related disorder	GPathogenic
Select item 3773868	NM_017872.5(THG1L):c.153C>G (p.Cys51Trp)	LOC129995144, THG1L (C51W)	Single nucleotide variant (5 prime UTR variant +1 more)	THG1L-related disorder	GLikely pathogenic
Select item 3773867	NM_000093.5(COL5A1):c.4348G>C (p.Gly1450Arg)	COL5A1 (G1450R)	Single nucleotide variant (missense variant)	COL5A1-related disorders	GLikely pathogenic
Select item 3773866	NM_002890.3(RASA1):c.1253+2T>G	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 3773865	NM_024426.6(WT1):c.1317_1318insAGGT (p.Ser440fs)	WT1 (S186fs +10 more)	Insertion (frameshift variant +2 more)	WT1-related disorder	GLikely pathogenic
Select item 3773864	NM_133433.4(NIPBL):c.6448C>G (p.Leu2150Val)	NIPBL (L2150V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3773863	NM_001376571.1(MADD):c.1603dup (p.Gln535fs)	MADD (Q313fs +2 more)	Duplication (frameshift variant +1 more)	MADD-related disorder	GLikely pathogenic
Select item 3773862	NM_004408.4(DNM1):c.643G>T (p.Asp215Tyr)	DNM1 (D215Y)	Single nucleotide variant (missense variant)	DNM1-related disorders	GLikely pathogenic
Select item 3773861	NM_001379200.1(TBX1):c.1222G>T (p.Glu408Ter)	TBX1 (E399* +1 more)	Single nucleotide variant (nonsense +1 more)	TBX1-related disorder	GLikely pathogenic
Select item 3773860	NM_001190274.2(FBXO11):c.1574_1575del (p.Phe525fs)	FBXO11 (F441fs +1 more)	Deletion (frameshift variant)	FBXO11-related disorder	GLikely pathogenic
Select item 3773859	NM_013296.5(GPSM2):c.1055C>A (p.Ser352Ter)	GPSM2 (S352*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 3773858	NM_005585.5(SMAD6):c.388dup (p.Ser130fs)	SMAD6 (S130fs)	Duplication (frameshift variant +1 more)	SMAD6-related disorder	GLikely pathogenic
Select item 3773857	NM_000540.3(RYR1):c.14647-1G>C	RYR1	Single nucleotide variant (splice acceptor variant)	RYR1-related disorder	GLikely pathogenic
Select item 3773856	NM_015100.4(POGZ):c.2505del (p.Phe836fs)	POGZ (F741fs +5 more)	Deletion (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 3773855	NM_020680.4(SCYL1):c.60_70del (p.Glu22fs)	LOC130006026, SCYL1 (E22fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GLikely pathogenic
Select item 3773854	NM_015884.4(MBTPS2):c.1165C>T (p.Pro389Ser)	MBTPS2 (P389S)	Single nucleotide variant (missense variant)	MBTPS2-related disorder	GLikely pathogenic
Select item 3773853	NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs)	SCN5A (W899fs)	Duplication (frameshift variant +1 more)	SCN5A-related disorder	GLikely pathogenic
Select item 3773852	NM_006186.4(NR4A2):c.809C>T (p.Ala270Val)	NR4A2 (A207V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3773851	NM_000132.4(F8):c.3619_3622del (p.His1207fs)	F8 (H1207fs)	Microsatellite (frameshift variant)	F8-related disorders	GPathogenic
Select item 3773850	NM_000124.4(ERCC6):c.2825_2829+3del	ERCC6, LOC126860933	Deletion (splice donor variant)	ERCC6-related disorder	GLikely pathogenic
Select item 3773849	NM_000124.4(ERCC6):c.3694del (p.Gln1232fs)	ERCC6 (Q1232fs)	Deletion (frameshift variant)	ERCC6-related disorder	GLikely pathogenic
Select item 3773848	NM_006517.5(SLC16A2):c.1277del (p.Phe426fs)	SLC16A2 (F426fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 3773847	NM_001374828.1(ARID1B):c.6064G>T (p.Glu2022Ter)	ARID1B (E1189* +3 more)	Single nucleotide variant (nonsense)	ARID1B-related disorder	GPathogenic
Select item 3773846	NM_001101.5(ACTB):c.1112A>G (p.His371Arg)	ACTB (H371R)	Single nucleotide variant (missense variant)	ACTB-related disorder	GLikely pathogenic
Select item 3773845	NM_018684.4(ZC4H2):c.226-1G>C	ZC4H2	Single nucleotide variant (splice acceptor variant)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 3773844	NM_024422.6(DSC2):c.859C>T (p.Gln287Ter)	DSC2 (Q144* +1 more)	Single nucleotide variant (nonsense)	DSC2-related disorder	GLikely pathogenic
Select item 3773843	NM_000138.5(FBN1):c.1080T>G (p.Cys360Trp)	FBN1, LOC113939944 (C360W)	Single nucleotide variant (missense variant)	FBN1-related disorder	GLikely pathogenic
Select item 3773842	NM_133433.4(NIPBL):c.1025del (p.Ala342fs)	NIPBL (A342fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3773841	NM_000153.4(GALC):c.767G>A (p.Gly256Glu)	GALC (G140E +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 3773840	NM_001329943.3(KIAA0586):c.1055C>G (p.Ser352Ter)	KIAA0586 (S212* +5 more)	Single nucleotide variant (nonsense)	KIAA0586- Related disorders	GPathogenic
Select item 3773839	NM_000346.4(SOX9):c.1079dup (p.Gln361fs)	SOX9 (Q361fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 3773838	NM_000548.5(TSC2):c.4711_4712insGCATGCTCCT (p.Tyr1571fs)	TSC2 (Y1056fs +34 more)	Insertion (frameshift variant +1 more)	TSC2-related disorder	GLikely pathogenic
Select item 3773837	NM_005249.5(FOXG1):c.577G>C (p.Ala193Pro)	FOXG1 (A193P)	Single nucleotide variant (missense variant)	FOXG1-related disorder	GLikely pathogenic
Select item 3773836	NM_003072.5(SMARCA4):c.2353A>G (p.Lys785Glu)	SMARCA4 (K785E)	Single nucleotide variant (missense variant +1 more)	SMARCA4-related disorder	GLikely pathogenic
Select item 3773835	NM_002049.4(GATA1):c.3G>C (p.Met1Ile)	GATA1 (M1I)	Single nucleotide variant (missense variant +1 more)	GATA1-related disorder	GPathogenic
Select item 3773834	NM_006208.3(ENPP1):c.298del (p.Ser100fs)	ENPP1 (S100fs)	Deletion (frameshift variant)	ENPP1-related disorder	GPathogenic
Select item 3773833	NM_017780.4(CHD7):c.1748_1751del (p.Ser583fs)	CHD7, LOC126860403 (S583fs)	Deletion (frameshift variant +1 more)	CHD7-related disorder	GPathogenic
Select item 3773832	NM_001369268.1(ACAN):c.1272del (p.Ile424fs)	ACAN (I424fs)	Deletion (frameshift variant)	ACAN-related disorder	GPathogenic
Select item 3773831	NM_001458.5(FLNC):c.2266-1G>A	FLNC	Single nucleotide variant (splice acceptor variant)	FLNC-related disorder	GLikely pathogenic
Select item 3773830	NM_001112741.2(KCNC1):c.430G>A (p.Asp144Asn)	KCNC1 (D144N)	Single nucleotide variant (missense variant)	KCNC1-related disorder	GLikely pathogenic
Select item 3773829	NM_021005.4(NR2F2):c.263G>A (p.Gly88Asp)	NR2F2 (G88D)	Single nucleotide variant (missense variant +1 more)	NR2F2-Releated Disorders	GLikely pathogenic
Select item 3773828	NM_001164508.2(NEB):c.22075A>T (p.Lys7359Ter)	NEB, RIF1 (K5658* +2 more)	Single nucleotide variant (nonsense)	NEB-related disorder	GLikely pathogenic
Select item 3773827	NM_002645.4(PIK3C2A):c.4451+1G>T	PIK3C2A	Single nucleotide variant (splice donor variant)	Oculocerebrodental syndrome	GLikely pathogenic
Select item 3773826	NM_001197104.2(KMT2A):c.6469_6470del (p.Gln2157fs)	KMT2A (Q2154fs +2 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3773825	NM_000498.3(CYP11B2):c.1201-2A>C	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	Aldosterone Synthase Deficiency	GLikely pathogenic
Select item 3773824	NM_001197104.2(KMT2A):c.6248dup (p.Pro2084fs)	KMT2A (P2081fs +2 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3773823	NM_005334.3(HCFC1):c.4094C>T (p.Thr1365Ile)	HCFC1 (T1365I)	Single nucleotide variant (missense variant)	HCFC1-related disorders	GLikely pathogenic
Select item 3773822	NM_032271.3(TRAF7):c.1850T>C (p.Phe617Ser)	TRAF7 (F617S)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GLikely pathogenic
Select item 3773821	NM_015836.4(WARS2):c.348+1G>T	WARS2	Single nucleotide variant (splice donor variant +1 more)	WARS2-related disorder	GPathogenic
Select item 3773820	NM_002480.3(PPP1R12A):c.522_523dup (p.Arg175fs)	PPP1R12A (R175fs +1 more)	Duplication (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3773819	NM_003128.3(SPTBN1):c.4303G>T (p.Glu1435Ter)	SPTBN1 (E1422* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3773818	NM_002049.4(GATA1):c.182_189dup (p.Arg64fs)	GATA1 (R64fs)	Duplication (frameshift variant)	GATA1-related disorder	GLikely pathogenic
Select item 3773817	NM_000116.5(TAFAZZIN):c.703del (p.Ile235fs)	TAFAZZIN (I191fs +5 more)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 3773816	NM_002734.5(PRKAR1A):c.634G>A (p.Ala212Thr)	PRKAR1A (A212T)	Single nucleotide variant (missense variant)	PRKAR1A-related disorder	GLikely pathogenic
Select item 3773815	NM_144772.3(NAXE):c.664+2T>A	NAXE	Single nucleotide variant (splice donor variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	GLikely pathogenic
Select item 3773814	NM_001001331.4(ATP2B2):c.1340G>A (p.Gly447Asp)	ATP2B2 (G402D +1 more)	Single nucleotide variant (missense variant)	ATP2B2-related disorder	GLikely pathogenic
Select item 3668386	NM_001286577.2(C2CD3):c.2733_2740delAGATGCTA (p.Ala913fs)	C2CD3 (A913fs)	Deletion (frameshift variant)	Orofaciodigital syndrome type 14 +1 more	GPathogenic/Likely pathogenic
Select item 3644210	NM_001364905.1(LRBA):c.4087C>T (p.Gln1363Ter)	LRBA (Q1363*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3358364	NM_000490.5(AVP):c.287G>A (p.Gly96Asp)	AVP (G96D)	Single nucleotide variant (missense variant)	Neurohypophyseal diabetes insipidus	GLikely pathogenic
Select item 3341965	NM_001320.7(CSNK2B):c.3G>A (p.Met1Ile)	CSNK2B (M1I)	Single nucleotide variant (missense variant +1 more)	Poirier-Bienvenu neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3072405	NM_004415.4(DSP):c.5119C>T (p.Gln1707Ter)	DSP (Q1707*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic/Likely pathogenic
Select item 2956420	NM_000821.7(GGCX):c.2017C>T (p.Arg673Ter)	GGCX (R673* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2804584	NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)	COL2A1 (G729S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2743216	NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)	LDLR (N428K +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GPathogenic/Likely pathogenic
Select item 2736560	NM_001042492.3(NF1):c.5609+2T>C	NF1	Single nucleotide variant (splice donor variant)	NF1-related disorder +1 more	GPathogenic
Select item 2727344	NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)	SMAD6 (W14*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 2680301	NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)	BRCA2 (A1001fs +4 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2662961	NM_001451.3(FOXF1):c.268C>T (p.Gln90Ter)	FOXF1 (Q90*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GPathogenic
Select item 2584541	NM_001267550.2(TTN):c.82912_82915del (p.Glu27638fs)	TTN, TTN-AS1 (E18573fs +5 more)	Deletion (frameshift variant)	TTN-related disorder	GLikely pathogenic
Select item 2584540	NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)	FOXF1 (Q62P)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2584539	NM_000214.3(JAG1):c.514C>T (p.Gln172Ter)	JAG1 (Q172*)	Single nucleotide variant (nonsense)	JAG1-related disorder	GPathogenic
Select item 2584538	NM_005499.3(UBA2):c.1173_1174dup (p.Ala392fs)	UBA2 (A296fs +1 more)	Duplication (frameshift variant)	UBA2-related disorder	GLikely pathogenic
Select item 2584537	NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)	PNPLA8 (N439fs +1 more)	Insertion (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 2584536	NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)	ABCD1 (V635M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2584535	NM_001110556.2(FLNA):c.79G>T (p.Glu27Ter)	FLNA (E27*)	Single nucleotide variant (nonsense)	FLNA-related disorder	GLikely pathogenic
Select item 2584534	NM_001321120.2(TBX4):c.748del (p.Arg250fs)	TBX4 (R250fs)	Deletion (frameshift variant)	TBX4-related disorder	GLikely pathogenic
Select item 2584533	NM_000531.6(OTC):c.437C>A (p.Ser146Ter)	OTC (S146*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2584532	NM_021728.4(OTX2):c.497_503dup (p.Ser169fs)	OTX2 (S161fs +1 more)	Duplication (frameshift variant +1 more)	OTX2-related disorder	GLikely pathogenic
Select item 2584531	NM_001042424.3(NSD2):c.367G>T (p.Glu123Ter)	NSD2 (E123*)	Single nucleotide variant (nonsense)	NSD2-related disorder	GPathogenic
Select item 2584530	NM_001079668.3(NKX2-1):c.989_1016dup (p.Ala341fs)	NKX2-1, SFTA3 (A311fs +1 more)	Duplication (frameshift variant)	NKX2-1-related disorder	GPathogenic
Select item 2584529	NM_012330.4(KAT6B):c.4453dup (p.Cys1485fs)	KAT6B (C1130fs +7 more)	Duplication (frameshift variant)	KAT6B-related disorder	GPathogenic
Select item 2584528	NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter)	NDUFB11 (R129* +1 more)	Single nucleotide variant (nonsense)	Linear skin defects with multiple congenital anomalies 3 +1 more	GLikely pathogenic
Select item 2584527	NM_002016.2(FLG):c.8311C>T (p.Gln2771Ter)	CCDST, FLG (Q2771*)	Single nucleotide variant (nonsense)	FLG-related disorder	GLikely pathogenic
Select item 2584526	NM_153252.5(BRWD3):c.4006-1G>A	BRWD3	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 2584525	NM_000251.3(MSH2):c.1636A>T (p.Lys546Ter)	MSH2 (K247* +8 more)	Single nucleotide variant (nonsense +1 more)	MSH2-related disorder	GLikely pathogenic
Select item 2584524	NM_015474.4(SAMHD1):c.625+2T>C	SAMHD1	Single nucleotide variant (splice donor variant)	SAMHD1-related disorder	GLikely pathogenic
Select item 2584523	NM_000944.5(PPP3CA):c.1341_1344del (p.Thr448fs)	PPP3CA (T448fs)	Deletion (frameshift variant +1 more)	PPP3CA-related disorder	GLikely pathogenic
Select item 2584522	NM_020778.5(ALPK3):c.4313C>A (p.Ser1438Ter)	ALPK3 (S1438*)	Single nucleotide variant (nonsense)	ALPK3-related disorder	GPathogenic
Select item 2584521	NM_022552.5(DNMT3A):c.1661G>C (p.Cys554Ser)	DNMT3A (C331S +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GLikely pathogenic
Select item 2584520	NM_000443.4(ABCB4):c.1406_1409del (p.Arg469fs)	ABCB4 (R469fs)	Deletion (frameshift variant)	ABCB4-related disorder	GLikely pathogenic
Select item 2584519	NM_172351.3(CD46):c.857-1G>A	CD46	Single nucleotide variant (splice acceptor variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 2584518	NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)	CLPP (G162S)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 2584517	NM_020975.6(RET):c.971G>A (p.Trp324Ter)	RET (W228* +3 more)	Single nucleotide variant (nonsense +1 more)	RET-related disorder	GPathogenic
Select item 2584516	NM_001346249.2(RALGAPA1):c.7152_7155dup (p.Phe2386fs)	RALGAPA1 (F1880fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 2584515	NM_001346249.2(RALGAPA1):c.1449+1G>T	RALGAPA1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 2584514	NM_024665.7(TBL1XR1):c.680A>G (p.Asp227Gly)	TBL1XR1 (D140G +1 more)	Single nucleotide variant (missense variant)	TBL1XR1-related disorder	GLikely pathogenic

<< First< Prev

Page of 12