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Links from MedGen

Items: 1 to 100 of 2916

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(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)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+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)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+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)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+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
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
(C711* +2 more)
Single nucleotide variant
(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
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(T691A +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
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1-TNFRSF6B, RTEL1
(I335N +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
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(S371fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
(K1288R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(L962P +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
(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-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
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(P43S)
Single nucleotide variant
(non-coding transcript variant +2 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
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Deletion
(intron variant)
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
(A206D +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
(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
(C841R +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
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(W682* +2 more)
Single nucleotide variant
(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
(S130Y)
Single nucleotide variant
(non-coding transcript variant +2 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(E600D +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
Duplication
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P249R +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
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