ClinVar (all) for Orgtrack (Select 505999) - ClinVar - NCBI

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

Links from Orgtrack

Items: 1 to 100 of 831

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359242	NM_004006.3(DMD):c.9564-30A>G	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy	GPathogenic
Select item 3359241	NM_003754.3(EIF3F):c.181C>T (p.Gln61Ter)	EIF3F (Q61*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 67	GLikely pathogenic
Select item 3359240	NM_001308142.2(MRTFB):c.310C>A (p.Arg104=)	MRTFB	Single nucleotide variant (synonymous variant)	MRTFB-related disorder	GPathogenic
Select item 3359239	NM_000718.4(CACNA1B):c.479_481dup (p.Ser160_Tyr161insSer)	CACNA1B	Duplication (inframe_insertion)	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	GUncertain significance
Select item 3359238	NM_003086.4(SNAPC4):c.472-2_472-1del	SNAPC4	Deletion (splice acceptor variant)	SNAPC4 related condition	GPathogenic
Select item 3359237	NM_003086.4(SNAPC4):c.1436T>C (p.Ile479Thr)	SNAPC4 (I479T)	Single nucleotide variant (missense variant)	SNAPC4 related condition	GPathogenic
Select item 3359236	NM_002866.5(RAB3A):c.247C>T (p.Arg83Trp)	RAB3A (R83W)	Single nucleotide variant (missense variant)	RAB3A-related condition	GPathogenic
Select item 3359235	NM_000183.3(HADHB):c.1390-515_1390-499del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency 2	GPathogenic
Select item 3359234	NM_015836.4(WARS2):c.161G>A (p.Gly54Glu)	WARS2 (G31E +1 more)	Single nucleotide variant (missense variant +2 more)	WARS2-related disorder	GLikely pathogenic
Select item 3359233	NM_033116.6(NEK9):c.1183-93C>G	NEK9	Single nucleotide variant (intron variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 3359232	NM_033116.6(NEK9):c.522T>G (p.His174Gln)	NEK9 (H174Q +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 3359231	NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)	TARS2 (Q504* +2 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 3359230	NM_012308.3(KDM2A):c.1772T>C (p.Met591Thr)	KDM2A (M152T +1 more)	Single nucleotide variant (missense variant +1 more)	KDM2A related condition	GUncertain significance
Select item 3359229	NM_032999.4(GTF2I):c.1157C>T (p.Pro386Leu)	GTF2I (P345L +4 more)	Single nucleotide variant (missense variant)	GTF2I related condition	GUncertain significance
Select item 3359228	NM_030930.4(UNC93B1):c.1006C>T (p.Arg336Cys)	UNC93B1 (R336C)	Single nucleotide variant (missense variant)	UNC93B1-related disorder	GLikely pathogenic
Select item 3359227	NM_005055.5(RAPSN):c.264C>G (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11	GPathogenic
Select item 3359226	NM_018297.4(NGLY1):c.1149+34A>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation 1	GUncertain significance
Select item 3359225	NM_024298.5(MBOAT7):c.724C>T (p.Arg242Cys)	MBOAT7 (R169C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 3359224	NM_024298.5(MBOAT7):c.1148_1166dup (p.Gly390fs)	MBOAT7 (G317fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 3359223	Single allele	DEPDC5, LINC02558 +10 more	Deletion	Epilepsy, familial focal, with variable foci 1	GPathogenic, low penetrance
Select item 3359222	NM_017871.6(INTS11):c.1652T>A (p.Val551Glu)	INTS11 (V450E +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GLikely pathogenic
Select item 3359221	NM_017871.6(INTS11):c.1652_1653del (p.Val551fs)	INTS11 (V450fs +4 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GLikely pathogenic
Select item 3359220	NM_032482.3(DOT1L):c.299C>T (p.Thr100Met)	DOT1L (T100M)	Single nucleotide variant (missense variant)	DOT1L-related condition	GPathogenic
Select item 3359219	NM_001111020.3(SUPT5H):c.524+1G>A	SUPT5H	Single nucleotide variant (splice donor variant)	SUPT5H-related condition	GUncertain significance
Select item 3359218	NM_002226.5(JAG2):c.860G>A (p.Cys287Tyr)	JAG2 (C287Y)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3359217	NM_002226.5(JAG2):c.2561_2569del (p.Pro854_Gly856del)	JAG2	Deletion (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3359216	NM_002268.5(KPNA4):c.914T>A (p.Leu305His)	KPNA4 (L305H)	Single nucleotide variant (missense variant)	KPNA4-related condition	GUncertain significance
Select item 3359215	Single allele	CYFIP1, LOC112272575 +18 more	Deletion	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 3359214	NM_133642.5(LARGE1):c.106+1218_106+5708del	LARGE1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 3238824	NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)	RPS6KA3 (E233*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome	GPathogenic
Select item 3238823	NM_145725.3(TRAF3):c.1032G>A (p.Trp344Ter)	TRAF3 (W261* +4 more)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 3	GPathogenic
Select item 3218495	NM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)	PRDX3 (G180D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218489	NM_006793.5(PRDX3):c.169+1G>A	PRDX3	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3068742	NR_003137.3(RNU4-2):n.64_65insT	RNU4-1, RNU4-2 +1 more	Insertion (non-coding transcript variant)	Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language +2 more	GPathogenic
Select item 3068449	NM_001277115.2(DNAH11):c.6547-963G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 3068448	NM_012381.4(ORC3):c.873+4A>G	ORC3	Single nucleotide variant (intron variant)	ORC3-related disorder	GLikely pathogenic
Select item 3068447	Single allele	ADAM17, CPSF3 +2 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GPathogenic
Select item 3068446	NM_000051.4(ATM):c.8152-260G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3068445	NM_012434.5(SLC17A5):c.467_525+125del	SLC17A5	Deletion (splice donor variant)	Sialic acid storage disease, severe infantile type	GLikely pathogenic
Select item 3068444	NM_007055.4(POLR3A):c.3429+51A>G	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 3068443	NM_004181.5(UCHL1):c.366_367del (p.Lys123fs)	UCHL1 (K123fs)	Microsatellite (frameshift variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GPathogenic
Select item 3068442	NM_012381.4(ORC3):c.647T>A (p.Val216Asp)	ORC3 (V216D +1 more)	Single nucleotide variant (missense variant)	ORC3-related disorder	GLikely pathogenic
Select item 3068441	NM_017654.4(SAMD9):c.1922T>G (p.Leu641Arg)	SAMD9 (L641R)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 3068440	NM_003504.5(CDC45):c.204G>A (p.Gln68=)	CDC45	Single nucleotide variant (synonymous variant +1 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 3068439	Single allele	LOC129932589, LOC129932590 +10 more	Complex	Skraban-Deardorff syndrome	GPathogenic
Select item 3068438	NM_001244008.2(KIF1A):c.183+293_798+287del	KIF1A	Deletion (splice acceptor variant +1 more)	Intellectual disability, autosomal dominant 9	GPathogenic
Select item 3068437	NM_012481.5(IKZF3):c.229A>T (p.Met77Leu)	IKZF3, LOC130060781 (M43L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068436	Single allele	LOC130067533, LOC130067534 +3 more	Deletion	Nephronophthisis-like nephropathy 1	GPathogenic
Select item 3068435	NM_006012.2(CLPP):c.-995_270+222del	CLPP, LOC130063288	Deletion	Perrault syndrome 3	GLikely pathogenic
Select item 3068434	NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)	ACTA1 (D27N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 3068433	NM_020546.3(ADCY2):c.1489T>A (p.Tyr497Asn)	ADCY2 (Y497N)	Single nucleotide variant (missense variant)	ADCY2-related disorder	GUncertain significance
Select item 3068432	NC_000001.11:g.976618_977825del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
Select item 3068431	NM_015459.5(ATL3):c.208C>T (p.Arg70Ter)	ATL3 (R52* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GPathogenic
Select item 3068430	NM_000360.4(TH):c.487+118G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 3024357	NM_012330.4(KAT6B):c.3373-1G>A	KAT6B	Single nucleotide variant (splice acceptor variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 2734643	NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)	WFS1 (A559D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2691776	NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)	VARS1 (S864*)	Indel (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 2691775	NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)	VARS1 (E1096D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 2691774	NM_001383.6(DPH1):c.749+39G>A	DPH1	Single nucleotide variant (intron variant)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GConflicting classifications of pathogenicity
Select item 2691773	NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)	CACNA1D (F747L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GPathogenic
Select item 2691772	NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser)	STT3A (N452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691771	Single allele	DPRX, LOC126862930 +1 more	Deletion	ZNF331 deletion	GUncertain significance
Select item 2691770	NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)	TTI1 (H424R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GLikely pathogenic
Select item 2691769	NM_001303457.2(TTI1):c.629dup (p.Leu210fs)	TTI1 (L210fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GUncertain significance
Select item 2691768	Single allele	CPSF3, LOC105373418 +23 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GUncertain significance
Select item 2691767	NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)	CPSF3 (R181Q +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GUncertain significance
Select item 2691766	NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)	ADCY5 (R1208C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	GLikely pathogenic
Select item 2691765	NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)	NOTCH1 (F1693S)	Single nucleotide variant (missense variant)	NOTCH1-related disorder	GPathogenic
Select item 2691764	NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)	AFG2B (G32D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2691763	NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)	KDR (G1092R)	Single nucleotide variant (missense variant)	KDR-related disorder	GUncertain significance
Select item 2691762	NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)	RBM28 (V357fs +1 more)	Duplication (frameshift variant)	ANE syndrome	GLikely pathogenic
Select item 2691761	NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)	CAMK2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 2664957	NM_144973.4(DENND5B):c.2547C>A (p.Asp849Glu)	DENND5B (D849E +1 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GUncertain significance
Select item 2640607	NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)	KAT6B (V1053I +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2599739	NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)	EBF3 (P317L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582646	NM_000718.4(CACNA1B):c.5506_5515delinsCTGGTACAGCTTA (p.Thr1836_Leu1839delinsLeuValGlnLeuMet)	CACNA1B	Indel (inframe_indel)	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	GUncertain significance
Select item 2582631	NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)	PRDM16 (L1048fs)	Deletion (frameshift variant)	Left ventricular noncompaction 8	GLikely pathogenic
Select item 2582541	NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)	VARS2 (C141Y +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 2582518	NM_005402.4(RALA):c.46A>G (p.Lys16Glu)	RALA (K16E)	Single nucleotide variant (missense variant)	Hiatt-Neu-Cooper neurodevelopmental syndrome	GLikely pathogenic
Select item 2580234	NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)	KIF5B (T87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505478	NM_005443.5(PAPSS1):c.286A>G (p.Asn96Asp)	PAPSS1 (N96D)	Single nucleotide variant (missense variant)	PAPSS1-related disorder	GUncertain significance
Select item 2505477	NM_005443.5(PAPSS1):c.331C>T (p.Arg111Ter)	PAPSS1 (R111*)	Single nucleotide variant (nonsense)	PAPSS1-related disorder	GUncertain significance
Select item 2505476	NM_004539.4(NARS1):c.1251+699A>G	NARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2505475	NM_015057.5(MYCBP2):c.8005C>T (p.Arg2669Ter)	MYCBP2 (R2669*)	Single nucleotide variant (nonsense)	MYCBP2-related disorder	GUncertain significance
Select item 2505474	NM_153354.5(TMEM161B):c.800+5G>A	TMEM161B	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM161B-related lissencephaly	GUncertain significance
Select item 2505473	NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)	DHX9 (K1163R)	Single nucleotide variant (missense variant +1 more)	DHX9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2505472	NM_006133.3(DAGLA):c.2456_2457del (p.His819fs)	DAGLA (H819fs)	Deletion (frameshift variant)	DAGLA-related disorder	GUncertain significance
Select item 2505471	NC_000019.10:g.13185527_13190803dup	NFIX	Duplication	Malan overgrowth syndrome	GUncertain significance
Select item 2505470	NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)	SPTSSA (T51I)	Single nucleotide variant (missense variant)	SPTSSA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2503129	NM_139276.3(STAT3):c.1339C>G (p.His447Asp)	STAT3 (H415D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502016	NM_015909.4(NBAS):c.2423+403G>C	NBAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2499999	NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)	DPP9, LOC126862841 (G167S +1 more)	Single nucleotide variant (missense variant +1 more)	Hatipoglu immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 2499998	NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)	DPP9, LOC126862841 (S214* +1 more)	Single nucleotide variant (nonsense +1 more)	Hatipoglu immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 2498150	NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)	RAPGEFL1 (R265* +2 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2498149	NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)	PI4KA (D1633N +2 more)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 2498148	NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)	PPP2R1A (I32M)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 2498147	NM_001195605.2(ZNF865):c.2091C>G (p.Tyr697Ter)	ZNF865 (Y697*)	Single nucleotide variant (nonsense)	ZNF865-related disorder	GUncertain significance
Select item 2498146	NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)	SREBF2 (R519H)	Single nucleotide variant (missense variant +1 more)	SREBF2-related disorder	GUncertain significance
Select item 2498145	NM_153354.5(TMEM161B):c.980T>C (p.Leu327Ser)	TMEM161B (L145S +2 more)	Single nucleotide variant (missense variant +1 more)	TMEM161B-related lissencephaly	GUncertain significance
Select item 2443864	NM_003545.4(H4C5):c.295T>C (p.Tyr99His)	H4C5 (Y99H)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic

<< First< Prev

Page of 9