S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from PubMed

Items: 1 to 100 of 149254

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
NNTGlucocorticoid deficiency 4 with or without mineralocorticoid deficiencyBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325908
2.
NNTGlucocorticoid deficiency 4 with or without mineralocorticoid deficiencyBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325907
3.
NKAPIntellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325906
4.
NKAPIntellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325905
5.
NKAPS202delIntellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325904
6.
NKAPIntellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325903
7.
NFASCNeurodevelopmental disorder with central and peripheral motor dysfunctionBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325902
8.
NFASCNeurodevelopmental disorder with central and peripheral motor dysfunctionBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325901
9.
NFASCNeurodevelopmental disorder with central and peripheral motor dysfunctionBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325900
10.
NEK9Lethal congenital contracture syndrome 10, Arthrogryposis, perthes disease, and upward gaze palsyBenign
(Sep 5, 2021)
criteria provided, single submitterVCV001325899
11.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325898
12.
NEK10L484S, L513S, L520SCiliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325897
13.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325896
14.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325895
15.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325894
16.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325893
17.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325892
18.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325891
19.
NEK10Ciliary dyskinesia, primary, 44Benign
(Sep 5, 2021)
criteria provided, single submitterVCV001325890
20.
PRDX3R15*Autosomal recessive cerebellar ataxiaLikely pathogenic
(Nov 24, 2021)
criteria provided, single submitterVCV001325883
21.
STXBP1K429fs, K451fs, K462fs, K465fsEarly infantile epileptic encephalopathy with suppression burstsPathogenic
(Nov 24, 2021)
criteria provided, single submitterVCV001325882
22.
GRIN2AM705VEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325870
23.
GRIN2AI694TEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325869
24.
GRIN2AG688AEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325868
25.
GRIN2AM653IEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325867
26.
GRIN2AM653VEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325866
27.
ANKRD17Q1536fs, Q1674fs, Q1786fs, Q1787fsCHOPRA-AMIEL-GORDON SYNDROMEPathogenic
(Oct 7, 2021)
criteria provided, single submitterVCV001325865
28.
GRCh37:
Chr16:9923357
GRCh38:
Chr16:9829500
GRIN2AS644GEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325864
29.
GRIN2AL611QEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325863
30.
GRIN2AA548TEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325862
31.
ARFGEF1Intellectual disability, Focal-onset seizureLikely pathogenic
(Oct 7, 2021)
criteria provided, single submitterVCV001325861
32.
GRIN2AL411QEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325860
33.
GRIN2AC231REpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325859
34.
GRIN2AI184SEpilepsy, focal, with speech disorder and with or without mental retardationLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV001325858
35.
MTORG2094V, G2510VSmith-Kingsmore syndromeLikely pathogenic
(Oct 20, 2021)
criteria provided, single submitterVCV001325857
36.
DDX3XY53*, Y69*Mental retardation, X-linked 102Likely pathogenic
(Oct 19, 2021)
criteria provided, single submitterVCV001325856
37.
PCDH19L92fsEarly infantile epileptic encephalopathy 9Likely pathogenic
(Oct 6, 2021)
criteria provided, single submitterVCV001325855
38.
TCF4P269fs, P324fs, P325fs, P355fs, P414fs, P443fs, P460fs, P461fs, P462fs, P482fs, P484fs, P485fs, P491fs, P587fsPitt-Hopkins syndromeLikely pathogenic
(Oct 19, 2021)
criteria provided, single submitterVCV001325854
39.
CDK13R868QCongenital heart defects, dysmorphic facial features, and intellectual developmental disorderUncertain significance
(Oct 19, 2021)
criteria provided, single submitterVCV001325853
40.
SMARCA4E488KMental retardation, autosomal dominant 16Uncertain significance
(Oct 18, 2021)
criteria provided, single submitterVCV001325852
41.
SCN1AS489fs, S490fsGeneralized epilepsy with febrile seizures plus, type 2Likely pathogenic
(Oct 18, 2021)
criteria provided, single submitterVCV001325851
42.
NF1L604fsNeurofibromatosis, type 1Pathogenic
(Oct 18, 2021)
criteria provided, single submitterVCV001325850
43.
CHKAM1TIntellectual disability, severe, Microcephaly, Seizures
Uncertain significance
(Oct 15, 2021)
criteria provided, single submitterVCV001325849
44.
CHKAF201L, F219L, F303L, F323L, F341L, F351LIntellectual disability, severe, Microcephaly, Seizures
Likely pathogenic
(Oct 15, 2021)
criteria provided, single submitterVCV001325848
45.
CHKAC6fsIntellectual disability, severe, Microcephaly, Seizures
Likely pathogenic
(Oct 15, 2021)
criteria provided, single submitterVCV001325847
46.
CHKAP176S, P194S, P204S, P54S, P72SIntellectual disability, severe, Microcephaly, Seizures
Likely pathogenic
(Oct 15, 2021)
criteria provided, single submitterVCV001325846
47.
CHKAR141W, R19WIntellectual disability, severe, Microcephaly, Seizures
Likely pathogenic
(Oct 15, 2021)
criteria provided, single submitterVCV001325845
48.
CHD2N1504SDevelopmental and epileptic encephalopathy 94Likely benign
(Oct 14, 2021)
criteria provided, single submitterVCV001325844
49.
PITX1A30fsTalipes equinovarusLikely pathogenic
(Oct 13, 2021)
criteria provided, single submitterVCV001325843
50.
CHD3L1080H, L1139HSnijders Blok-Campeau syndromeLikely pathogenic
(Oct 12, 2021)
criteria provided, single submitterVCV001325842
51.
QARS1Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyUncertain significance
(Oct 12, 2021)
criteria provided, single submitterVCV001325841
52.
BRAFL397W, L433W, L448W, L451W, L463W, L485W, L488W, L525WCardiofaciocutaneous syndrome 1Pathogenic
(Oct 11, 2021)
criteria provided, single submitterVCV001325840
53.
FOXG1E173fsRett syndrome, congenital variantLikely pathogenic
(Oct 11, 2021)
criteria provided, single submitterVCV001325839
54.
CACNA1CF166LNeurodevelopmental delayLikely pathogenic
(Jan 31, 2020)
criteria provided, single submitterVCV001325838
55.
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Nov 19, 2021)
criteria provided, single submitterVCV001325837
56.
NFIAA355fs, A363fs, A408fsBrain malformations and urinary tract defectsLikely pathogenic
(Nov 18, 2021)
criteria provided, single submitterVCV001325836
57.
GABRG2A305V, A313V, A350V, A423V, A424V, A431V, A444V, A445V, A450V, A452V, A453V, A466V, A485V, A493VFamilial febrile seizures 8Uncertain significance
(Nov 18, 2021)
criteria provided, single submitterVCV001325835
58.
GPD1S110L, S133LHypertriglyceridemia, transient infantileUncertain significance
(Nov 16, 2021)
criteria provided, single submitterVCV001325834
59.
SPG11Spastic paraplegia 11, autosomal recessivePathogenic
(Nov 16, 2021)
criteria provided, single submitterVCV001325833
60.
GNAO1K51EEarly infantile epileptic encephalopathy 17Uncertain significance
(Nov 15, 2021)
criteria provided, single submitterVCV001325832
61.
CHD2Developmental and epileptic encephalopathy 94Uncertain significance
(Nov 12, 2021)
criteria provided, single submitterVCV001325831
62.
FGFR3N428H, N540H, N541H, N542HShort statureLikely pathogenic
(Nov 12, 2021)
criteria provided, single submitterVCV001325830
63.
TMEM67R711G, R792GJoubert syndrome 6Uncertain significance
(Nov 10, 2021)
criteria provided, single submitterVCV001325829
64.
DLG4R557*, R590*, R614*, R617*, R657*, R660*Intellectual developmental disorder 62Pathogenic
(Nov 10, 2021)
criteria provided, single submitterVCV001325828
65.
TRPV4R745fs, R792fs, R805fs, R818fs, R852fsMild short statureUncertain significance
(Nov 9, 2021)
criteria provided, single submitterVCV001325827
66.
TRRAPA3812T, A3841T, A3855TDevelopmental delay with or without dysmorphic facies and autismUncertain significance
(Nov 9, 2021)
criteria provided, single submitterVCV001325826
67.
AUTS2Mental retardation, autosomal dominant 26Pathogenic
(Nov 9, 2021)
criteria provided, single submitterVCV001325825
68.
PLAG1F172fs, F254fsSilver-russell syndrome 4Uncertain significance
(Nov 8, 2021)
criteria provided, single submitterVCV001325824
69.
DDX3XQ379*, Q549*, Q565*Mental retardation, X-linked 102Pathogenic
(Nov 8, 2021)
criteria provided, single submitterVCV001325823
70.
NPRL3Q129*, Q230*, Q283*, Q308*Epilepsy, familial focal, with variable foci 3Pathogenic
(Oct 8, 2021)
criteria provided, single submitterVCV001325822
71.
CPA6R36HFebrile seizures, familial, 11Likely pathogenic
(Nov 5, 2021)
criteria provided, single submitterVCV001325821
72.
PDHA1H259Y, H290Y, H297Y, H328YPyruvate dehydrogenase E1-alpha deficiencyLikely pathogenic
(Nov 4, 2021)
criteria provided, single submitterVCV001325820
73.
HTRA1R166CCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2Likely pathogenic
(Nov 3, 2021)
criteria provided, single submitterVCV001325819
74.
SETD5E466fs, E564fsMental retardation, autosomal dominant 23Pathogenic
(Nov 3, 2021)
criteria provided, single submitterVCV001325818
75.
WDR26L132fs, L32fsSkraban-Deardorff syndromePathogenic
(Nov 3, 2021)
criteria provided, single submitterVCV001325817
76.
PAK1S110T, S117T, S12TIntellectual developmental disorder with macrocephaly, seizures, and speech delayLikely pathogenic
(Nov 1, 2019)
criteria provided, single submitterVCV001325816
77.
HNRNPUEpileptic encephalopathy, early infantile, 54Pathogenic
(Nov 3, 2021)
criteria provided, single submitterVCV001325815
78.
SPTAN1Early infantile epileptic encephalopathy 5Likely benign
(Nov 3, 2021)
criteria provided, single submitterVCV001325814
79.
SMC1AQ337fs, Q359fsDevelopmental and epileptic encephalopathy, 85, with or without midline brain defectsLikely pathogenic
(Nov 1, 2021)
criteria provided, single submitterVCV001325813
80.
ATP6V0A1Q18LGlobal developmental delay, SeizuresUncertain significance
(Oct 30, 2019)
criteria provided, single submitterVCV001325812
81.
NFIXD101Y, D108Y, D109Y, D117Y, D125Y, D62YSotos syndrome 2Likely pathogenic
(Nov 1, 2021)
criteria provided, single submitterVCV001325811
82.
HIVEP2H2358YMental retardation, autosomal dominant 43Uncertain significance
(Nov 1, 2021)
criteria provided, single submitterVCV001325810
83.
PAK1P121S, P128S, P23SIntellectual developmental disorder with macrocephaly, seizures, and speech delayLikely pathogenic
(Nov 1, 2019)
criteria provided, single submitterVCV001325809
84.
SATB1R308H, R380HKohlschutter-Tonz syndrome-likeUncertain significance
(Oct 6, 2021)
criteria provided, single submitterVCV001325808
85.
EP300H381QRubinstein-Taybi syndrome 2Uncertain significance
(Nov 1, 2021)
criteria provided, single submitterVCV001325807
86.
PMM2T16ICongenital disorder of glycosylation, type IaUncertain significance
(Oct 29, 2021)
criteria provided, single submitterVCV001325806
87.
BCKDHAC258*Maple syrup urine diseasePathogenic
(Oct 28, 2021)
criteria provided, single submitterVCV001325805
88.
NPRL2Epilepsy, familial focal, with variable foci 2Uncertain significance
(Oct 27, 2021)
criteria provided, single submitterVCV001325804
89.
DSG2Arrhythmogenic right ventricular cardiomyopathy, type 10Likely pathogenic
(Oct 27, 2021)
criteria provided, single submitterVCV001325803
90.
TNRC6BW680*Global developmental delay with speech and behavioral abnormalitiesPathogenic
(Oct 27, 2021)
criteria provided, single submitterVCV001325802
91.
PAK1S133P, S140P, S35PIntellectual developmental disorder with macrocephaly, seizures, and speech delayLikely pathogenic
(Nov 1, 2019)
criteria provided, single submitterVCV001325801
92.
MFN2T232SCharcot-Marie-Tooth disease, type 2A2ALikely pathogenic
(Oct 26, 2021)
criteria provided, single submitterVCV001325800
93.
PHIPP72SDevelopmental delay, intellectual disability, obesity, and dysmorphic featuresUncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001325799
94.
LZTR1S176LNoonan syndrome 10Uncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001325798
95.
SPTAN1A306V, A318VEarly infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325797
96.
SPTAN1G178D, G190DEarly infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325796
97.
SPTAN1Early infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325795
98.
SPTAN1D2259del, D2264del, D2278del, D2279del, D2284del, D2296del, D2305del, D2313del, D2317delEarly infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325794
99.
SPTAN1N2183del, N2188del, N2203del, N2208del, N2220del, N2237delEarly infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325793
100.
SPTAN1R1751W, R1756W, R1771W, R1776W, R1788WEarly infantile epileptic encephalopathy 5Likely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV001325792
Format
Items per page
Sort by

Download:

Choose Destination
Support Center