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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1A
(K372*)
Single nucleotide variant
(nonsense)
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
CRX
(R98*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+2 more
GPathogenic
HINT1
(R119W)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(V602fs +4 more)
Deletion
(non-coding transcript variant +1 more)
Gorlin syndrome
GPathogenic
FBN2
Single nucleotide variant
(splice acceptor variant)
Congenital contractural arachnodactyly
GPathogenic
CDKN1C
(A213fs +1 more)
Indel
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
F5
(L1366fs)
Deletion
(frameshift variant)
Factor V deficiency
GPathogenic
ALDH1A3, ALDH1A3-AS1
(G130R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Isolated anophthalmia-microphthalmia syndrome
GPathogenic
ALDH1A3
(R96H)
Single nucleotide variant
(missense variant)
Isolated anophthalmia-microphthalmia syndrome
GPathogenic
TBCD
Single nucleotide variant
(splice donor variant)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
GPathogenic
OFD1
(L200P +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 10
GPathogenic
TGM1
(G340E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TBCD
(Y478C)
Single nucleotide variant
(missense variant)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
+1 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, perinatal lethal
+2 more
GPathogenic
RYR2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TGM1
(R307W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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