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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAPPC12
(Q327*)
Single nucleotide variant
(nonsense)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GPathogenic
TRAPPC12
(D222Y)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(D84fs)
Deletion
(frameshift variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
Single nucleotide variant
(splice donor variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
(M66fs)
Microsatellite
(frameshift variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
Single nucleotide variant
(splice acceptor variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
(P19fs)
Deletion
(frameshift variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
Indel
(intron variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GBenign
TRAPPC12, TRAPPC12-AS1
(E691Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
Duplication
(inframe_insertion)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(V565M)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(E121K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TRAPPC12
Single nucleotide variant
(intron variant)
not provided
GPathogenic
TRAPPC12
(I593S)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
Single nucleotide variant
(intron variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GPathogenic
TRAPPC12-AS1, TRAPPC12
Single nucleotide variant
(synonymous variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TRAPPC12
(A535V)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12-AS1, TRAPPC12
Single nucleotide variant
(synonymous variant)
TRAPPC12-related disorder
+2 more
GBenign
LIPT2
(G109D)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
+2 more
GUncertain significance
TRAPPC12, TRAPPC12-AS1
(L697P)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
Single nucleotide variant
(intron variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
+1 more
GUncertain significance
TRAPPC12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TRAPPC12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TRAPPC12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TRAPPC12
(S301G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TRAPPC12, TRAPPC12-AS1
(L631R)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(A214V)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(R166S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRAPPC12
Single nucleotide variant
(splice acceptor variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12
(R533G)
Single nucleotide variant
(missense variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GUncertain significance
TRAPPC12
(E49fs)
Deletion
(frameshift variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TRAPPC12, TRAPPC12-AS1
(A627V)
Single nucleotide variant
(missense variant)
Progressive childhood encephalopathy
+1 more
GPathogenic/Likely pathogenic
TRAPPC12
(E121fs)
Duplication
(frameshift variant)
Progressive childhood encephalopathy
+1 more
GPathogenic/Likely pathogenic
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