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Items: 1 to 100 of 2333

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTEL1, RTEL1-TNFRSF6B
(Q669* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(K199* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Deletion
(splice acceptor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A194fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(Q196fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(D671fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(S274fs +2 more)
Deletion
(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
(Q1044fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(E647* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(W504* +2 more)
Single nucleotide variant
(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
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(E718fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(F689fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A566fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(Q524fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1-TNFRSF6B, RTEL1
(A464fs +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
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A93fs)
Deletion
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(Q620* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A137fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
Deletion
(splice acceptor variant)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(G713fs +2 more)
Indel
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(R527fs +2 more)
Deletion
(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
(V418M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(V36M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(K700E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(H242Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
CHRNA4, EEF1A2
+9 more
Duplication
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1
Duplication
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, TNFRSF6B
Duplication
not provided
GUncertain significance
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1, TNFRSF6B
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
RTEL1
Deletion
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
EEF1A2, FNDC11
+8 more
Deletion
Dyskeratosis congenita, autosomal recessive 5
+2 more
GPathogenic
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S1073A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S634F +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 +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P1189L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(Q1015H +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
(A614S +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1-TNFRSF6B, RTEL1
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(Y331H +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
(P1031L +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P661R +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
(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
(F689L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Duplication
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GBenign
RTEL1, RTEL1-TNFRSF6B
(R461W +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
(intron variant)
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, 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
(M320V +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)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P74A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(E619K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P1232L +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P826S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Microsatellite
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(M359V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A1281T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A1240P)
Single nucleotide variant
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P1169S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RTEL1-related condition
+2 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A687V +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(R1139G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+2 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(A614V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(G1218D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(K782R +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(P1035R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(V1032L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S925F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(D531G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A523V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(Q903H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(A192T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+2 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
(P2L +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)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
RTEL1, RTEL1-TNFRSF6B
(M780I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(H1028P +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
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GLikely benign
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