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Items: 1 to 100 of 1411

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM
Duplication
(splice donor variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GLikely pathogenic
ACADM
(W46fs +2 more)
Insertion
(frameshift variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic
BTD
(S50fs)
Duplication
(frameshift variant)
Biotinidase deficiency
GLikely pathogenic
BBS2
(S286fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
ATP7B
(E122* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
(K1024* +27 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(Y155* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ASL, LOC129998526
(E4fs)
Duplication
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
XPC
(M397fs +2 more)
Deletion
(frameshift variant +2 more)
Xeroderma pigmentosum, group C
GLikely pathogenic
USH2A, USH2A-AS2
(Y1795*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH1C
(E525fs +2 more)
Duplication
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
Deletion
(intron variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
TCIRG1
(A121fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 1
GLikely pathogenic
SLC26A2
(S249*)
Single nucleotide variant
(nonsense)
Multiple epiphyseal dysplasia type 4
GLikely pathogenic
SLC22A5
(L269fs +1 more)
Deletion
(frameshift variant)
Renal carnitine transport defect
GLikely pathogenic
SGCB
(I78fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2E
GLikely pathogenic
SACS
(L4394fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S3050fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L1729* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
PEX6
(W333* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
GLikely pathogenic
PCDH15
(K1790fs +8 more)
Insertion
(frameshift variant +1 more)
Usher syndrome type 1D
GLikely pathogenic
PCDH15
(E1579fs +8 more)
Duplication
(frameshift variant +1 more)
Usher syndrome type 1D
GLikely pathogenic
PCDH15
(D1657* +4 more)
Duplication
(nonsense)
Usher syndrome type 1D
GLikely pathogenic
ALMS1
(T1914fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GLikely pathogenic
NEB
(Q4418fs)
Duplication
(frameshift variant +1 more)
Nemaline myopathy 2
GPathogenic
NEB
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 2
GLikely pathogenic
NEB
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 2
GLikely pathogenic
NEB
(K1119*)
Single nucleotide variant
(nonsense)
Nemaline myopathy 2
GPathogenic
ALMS1
(Y4152* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GLikely pathogenic
MYO7A
(V1766fs +2 more)
Microsatellite
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 2
GPathogenic
MEFV
(G197fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
GLikely pathogenic
MCOLN1
(Y136*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
GLikely pathogenic
ALDH3A2
(A108fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GLikely pathogenic
MAN2B1
(V313fs)
Microsatellite
(frameshift variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
LIPA
(H106fs +1 more)
Deletion
(frameshift variant)
Cholesteryl ester storage disease
GLikely pathogenic
LAMC2
Single nucleotide variant
(splice donor variant)
Epidermolysis bullosa, junctional 3B, severe
GLikely pathogenic
LAMA3
(L434fs)
Deletion
(frameshift variant +1 more)
Epidermolysis bullosa, junctional 2A, intermediate
GPathogenic
LAMA2
(C2679* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GLikely pathogenic
KCNJ11
(A277fs +1 more)
Deletion
(frameshift variant)
Hyperinsulinemic hypoglycemia, familial, 2
GLikely pathogenic
HOGA1
(F69fs)
Duplication
(frameshift variant)
Primary hyperoxaluria type 3
GLikely pathogenic
AGL
(Y705* +4 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GLikely pathogenic
GNPTG
Single nucleotide variant
(stop lost)
GNPTG-mucolipidosis
GLikely pathogenic
GNPTAB
(N500fs)
Deletion
(frameshift variant)
Mucolipidosis type II
GLikely pathogenic
AGL
(E498fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease type III
GLikely pathogenic
ADA
(S197fs +2 more)
Duplication
(frameshift variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
GALK1
(P362fs)
Deletion
(frameshift variant)
Deficiency of galactokinase
GLikely pathogenic
GALK1
(R366fs)
Deletion
(frameshift variant)
Deficiency of galactokinase
GLikely pathogenic
FKTN
(M110fs +2 more)
Deletion
(frameshift variant +2 more)
Dilated cardiomyopathy 1X
+1 more
GLikely pathogenic
ERCC6, PGBD3
(R1031* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 2
GLikely pathogenic
DYSF
Single nucleotide variant
(splice acceptor variant)
Miyoshi muscular dystrophy 1
+1 more
GPathogenic/Likely pathogenic
DLD
Microsatellite
(splice donor variant)
Pyruvate dehydrogenase E3 deficiency
GLikely pathogenic
DBT
Single nucleotide variant
(splice acceptor variant)
Maple syrup urine disease type 2
GLikely pathogenic
DBT
(L113* +1 more)
Single nucleotide variant
(nonsense +1 more)
Maple syrup urine disease type 2
GLikely pathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
LAMA3
(R442*)
Single nucleotide variant
(nonsense +1 more)
Epidermolysis bullosa, junctional 2A, intermediate
+1 more
GConflicting classifications of pathogenicity
CLCN1
(E291*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(V202fs)
Duplication
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1, LOC123956257
(E668*)
Duplication
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1, LOC123956257
(C666fs)
Microsatellite
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1, LOC123956257
(Q662*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(G534S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(F343I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(F297fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GLikely pathogenic
HGSNAT
(A169fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic/Likely pathogenic
ATM
(S712*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ALMS1
(E21fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GConflicting classifications of pathogenicity
CPS1
Single nucleotide variant
(splice acceptor variant)
Pulmonary hypertension, neonatal, susceptibility to
+1 more
GLikely pathogenic
AXDND1, NPHS2
(K231fs +1 more)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
DYSF
(D288fs +3 more)
Duplication
(frameshift variant)
Miyoshi muscular dystrophy 1
+2 more
GPathogenic/Likely pathogenic
CLCN1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
EVC
Single nucleotide variant
(splice donor variant)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
CLCN1
(G845S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
DYNC1H1
(L2315V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GLikely pathogenic
COL3A1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
LOC109611589, RUNX2
(Q44fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
ZNF462
(R1412* +1 more)
Single nucleotide variant
(nonsense)
Weiss-kruszka syndrome
GLikely pathogenic
APOA1, APOA1-AS
(Y42*)
Single nucleotide variant
(nonsense)
Familial visceral amyloidosis, Ostertag type
GLikely pathogenic
SHANK3
(D972fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
PKD1
(S4071fs +1 more)
Microsatellite
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
AVPR2
(W156*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
ATP6V1B2
(Q42*)
Single nucleotide variant
(nonsense)
Zimmermann-Laband syndrome 2
GLikely pathogenic
RYR1
(N43T)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
GLikely pathogenic
SLC6A8
Deletion
(inframe_indel)
Creatine transporter deficiency
GLikely pathogenic
PKD1
(Q378*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease, adult type
GLikely pathogenic
SETD1B
(A1776fs)
Duplication
(frameshift variant)
Intellectual developmental disorder with seizures and language delay
GPathogenic
COL4A3, MFF-DT
(G363W)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
PHEX, PHEX-AS1
(L492fs)
Deletion
(frameshift variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GLikely pathogenic
MEF2C
Single nucleotide variant
(splice donor variant +1 more)
Intellectual disability, autosomal dominant 20
GPathogenic
ARX
(M1L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
GLikely pathogenic
FGG
(R401W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
DMD
(A1069fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
KMT2C
(W1615*)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 2
GPathogenic
CUL3
(S384fs +2 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without autism or seizures
GPathogenic
SSR4
(R79* +2 more)
Single nucleotide variant
(nonsense +1 more)
SSR4-congenital disorder of glycosylation
GLikely pathogenic
FBN1
(C1039R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
TGFBI
Insertion
(inframe_indel)
Reis-Bucklers' corneal dystrophy
GLikely pathogenic
PURA
(D76A)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GLikely pathogenic
PKHD1
Insertion
(inframe_indel)
Polycystic kidney disease 4
GLikely pathogenic
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