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Items: 1 to 100 of 274400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DICER1
(N1266I +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
DTNA
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 1
GLikely benign
PCDH19
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 9
GLikely benign
BCOR
(Q1254L +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
ELP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RYR1
Deletion
RYR1-related disorder
GPathogenic
KDM5C
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
GSS
Single nucleotide variant
(synonymous variant)
Inherited glutathione synthetase deficiency
GLikely benign
DCAF17, METTL8
Single nucleotide variant
(synonymous variant +2 more)
Woodhouse-Sakati syndrome
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
AICDA
(H155Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 2
GUncertain significance
UNG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 5
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
MLYCD
Single nucleotide variant
(synonymous variant)
Deficiency of malonyl-CoA decarboxylase
GLikely benign
DCAF17
Single nucleotide variant
(synonymous variant +1 more)
Woodhouse-Sakati syndrome
GLikely benign
LEMD3
(H471Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PC
Single nucleotide variant
(intron variant)
Pyruvate carboxylase deficiency
GLikely benign
JPH2
(A208T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
NCF2
Single nucleotide variant
(splice acceptor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely pathogenic
HDAC8
Duplication
(intron variant)
Cornelia de Lange syndrome 5
GBenign
SLC12A6
(S536N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPC3
(R86L)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
APP
(L5F)
Single nucleotide variant
(missense variant +1 more)
Alzheimer disease
GUncertain significance
COL27A1
Deletion
(intron variant)
not provided
GBenign
BARD1
(S173F +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ALG6
Single nucleotide variant
(intron variant)
ALG6-congenital disorder of glycosylation 1C
GLikely benign
TMEM43
(V295A +6 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
GUncertain significance
SGCG
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
GLikely benign
CDH1
(D104G)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
APC
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 1
GBenign/Likely benign
KIT
(R800L +5 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
ERBB2
(A633V +12 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KMT2D
Single nucleotide variant
(intron variant)
Kabuki syndrome
GLikely benign
F11, F11-AS1
(G505fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FANCA
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
PLCG2
(P522S)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
COG1, VCF1
Single nucleotide variant
(3 prime UTR variant +1 more)
COG1 congenital disorder of glycosylation
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
LEFTY2
(R313S +1 more)
Single nucleotide variant
(missense variant)
Left-right axis malformations
GUncertain significance
PNPLA6
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 39
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
TCF20
(G81V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
WRN
(D1231G)
Single nucleotide variant
(missense variant)
Werner syndrome
GUncertain significance
FANCD2, LOC107303338
(H899Y +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
LRPPRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RYR1
Duplication
(intron variant)
RYR1-related disorder
GBenign
LAMA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NPHS2
(E44*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO15A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FREM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SAMD9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
(R73Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(R571H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(I513V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GHR
(K597T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RBBP8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
FGD4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TCF20
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMPRSS6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GBenign
FAN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC27A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP8A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FRRS1L
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 37
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIEZO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
FANCA
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
COL17A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RECQL4
Single nucleotide variant
(synonymous variant +2 more)
Baller-Gerold syndrome
GLikely benign
CAD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DOCK6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALPK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CACNA1E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HBA-LCR, NPRL3
Single nucleotide variant
(5 prime UTR variant +1 more)
Epilepsy, familial focal, with variable foci 3
GLikely benign
RASA2
Deletion
(intron variant)
not provided
GBenign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
RIGI
(Q530* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
DISP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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