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Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(N741K)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
KMT2D
Indel
(splice donor variant)
Kabuki syndrome 1
GPathogenic
KMT2D
Single nucleotide variant
(splice donor variant)
Kabuki syndrome 1
GPathogenic
GALK1, ITGB4
(R1281P)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4, GALK1
(T1434fs +1 more)
Duplication
(frameshift variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
USP9X
(P180L)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 99
GLikely pathogenic
LOC126863207, MID1
(G567V +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
COL3A1
(G1191V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
FBXW11
(G371V +6 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental, jaw, eye, and digital syndrome
GLikely pathogenic
STIM1
(I115T +2 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy, tubular aggregate, 1
GLikely pathogenic
SUZ12
(E587Q +1 more)
Single nucleotide variant
(missense variant)
Imagawa-Matsumoto syndrome
GPathogenic
GNB5
(C179* +2 more)
Single nucleotide variant
(nonsense)
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
GLikely pathogenic
GNAS
(D11fs)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
SLC37A4
(S32del)
Deletion
(inframe_deletion +1 more)
Glucose-6-phosphate transport defect
GLikely pathogenic
NSD1
(P1613L +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
PKD1
(D1504fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
NPHP4
(T442fs)
Insertion
(5 prime UTR variant +2 more)
Nephronophthisis 4
GLikely pathogenic
NPHP4
(F62fs)
Microsatellite
(5 prime UTR variant +3 more)
Nephronophthisis 4
GLikely pathogenic
TUBB
(D152H +3 more)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 6
GLikely pathogenic
FLNA
(M1L)
Single nucleotide variant
(missense variant +1 more)
Melnick-Needles syndrome
GLikely pathogenic
FGD1
(T141fs)
Deletion
(frameshift variant)
Aarskog syndrome
GLikely pathogenic
KDM6B, LOC121587574
Duplication
(splice donor variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
FOXF1
(F77L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
USH2A
(C1452*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GPathogenic
CREBBP
(V466fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
ACTG2
(D112G +1 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
GLikely pathogenic
WAS
(W252fs)
Deletion
(frameshift variant)
Thrombocytopenia 1
GLikely pathogenic
IL2RG
(T86N)
Single nucleotide variant
(missense variant)
Combined immunodeficiency, X-linked
GLikely pathogenic
THPO
(Q120fs)
Duplication
(5 prime UTR variant +1 more)
Thrombocytopenia 9
GLikely pathogenic
ANOS1
(F650fs)
Indel
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
GPathogenic
MYBPC3
Deletion
(inframe_deletion)
Hypertrophic cardiomyopathy 4
GLikely pathogenic
SPAST
(V449fs +3 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
COL1A1
(R918C)
Single nucleotide variant
(missense variant)
Infantile cortical hyperostosis
GPathogenic
COL2A1
(G813V +1 more)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia congenita
GLikely pathogenic
COL5A1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely pathogenic
GALC
(W105* +4 more)
Single nucleotide variant
(nonsense +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
DNMT3A
Single nucleotide variant
(splice acceptor variant)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
CUL7
(R810* +1 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
GLikely pathogenic
STS
(G128R +1 more)
Single nucleotide variant
(missense variant)
X-linked ichthyosis with steryl-sulfatase deficiency
GLikely pathogenic
PRR12
(T1329fs)
Duplication
(frameshift variant)
Neuroocular syndrome 1
GLikely pathogenic
CHD4
(A1147T +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GLikely pathogenic
PPP1CB
(D165N)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
GLikely pathogenic
KIF11
(G868fs)
Deletion
(frameshift variant)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
GLikely pathogenic
KANSL1
(Q44* +1 more)
Single nucleotide variant
(nonsense)
Koolen-de Vries syndrome
GPathogenic
CREBBP
(Q859* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
RASA1
(E5fs)
Deletion
(frameshift variant)
Capillary malformation-arteriovenous malformation 1
GLikely pathogenic
NF1
(Q2676fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GLikely pathogenic
TRIP12
(N1109fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
ANKRD11
(A2201fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
FAS
(G217V +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
ANKRD11
(Q2412fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
SLC12A5
(Q870P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
TGM6
Single nucleotide variant
(splice donor variant)
Spinocerebellar ataxia type 35
GLikely pathogenic
ALMS1
(I1950fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
COL6A2
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 1B
GPathogenic
ZMYM2
(T1027fs +2 more)
Microsatellite
(frameshift variant +1 more)
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
GLikely pathogenic
PKD1
(C3283fs)
Duplication
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic
SLC12A5
(Q344* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
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
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