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Links from Gene

Items: 1 to 100 of 3204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely pathogenic
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely pathogenic
RTEL1
Duplication
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
(W1217* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(C207fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(T138fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A622fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1-TNFRSF6B, RTEL1
(G1137fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice acceptor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(A1067T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(L142S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(D231V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(V1098L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(L708Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(K700T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P502S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(E179G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S195T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S193G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P986A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A972T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A1094V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(W1045R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(N971D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(T601I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P497L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
RTEL1-related disorder
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P204S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RTEL1-related disorder
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
RTEL1-related disorder
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
RTEL1-related disorder
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
RTEL1-related disorder
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(E600K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RTEL1-related disorder
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
RTEL1-related disorder
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P2H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(L153V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(K1176fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1-TNFRSF6B, RTEL1
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(V665G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(S767fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Microsatellite
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Deletion
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(S814I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(C753W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1-TNFRSF6B, RTEL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(Y421S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(G1191R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(Q443K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(F700S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S791C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Insertion
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(G473E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(L883fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +2 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(I1008L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1-TNFRSF6B, RTEL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
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