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Items: 1 to 100 of 478

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(P364fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
(D338fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(Q390* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(V396A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(splice donor variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely pathogenic
TRNT1
(I223fs)
Deletion
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(R182K)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(R182fs)
Insertion
(frameshift variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Duplication
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GBenign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(splice donor variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(L51fs)
Deletion
(frameshift variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Deletion
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
(I258M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(D318G +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(H9Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRNT1
(Y259C)
Single nucleotide variant
(missense variant +2 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(I267T)
Single nucleotide variant
(missense variant +2 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(F170S)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(I98S)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(G385R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(K402R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(Q145H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Deletion
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(L304V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(L27V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Microsatellite
(splice acceptor variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(T340A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(P345L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(R392* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
(A316V +1 more)
Inversion
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Deletion
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(Q409E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(I373N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(I331V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(I295V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(H256N)
Single nucleotide variant
(missense variant +2 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(R182T)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(Q25K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(L196V)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(L388S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(G248S)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(T112S)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(P23L)
Indel
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(Q283H +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(S389fs +1 more)
Duplication
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
(I411fs +1 more)
Insertion
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(A264G)
Single nucleotide variant
(missense variant +2 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(H186Y)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(N71S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(K412N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(V265A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(intron variant)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
(D286G +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
(D266N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
TRNT1
Single nucleotide variant
(synonymous variant +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GLikely benign
TRNT1
Duplication
(nonsense +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GPathogenic
TRNT1
Duplication
(inframe_insertion +1 more)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
GUncertain significance
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