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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF15
(A225T)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
(P137S)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
(S55F)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
(R32Q)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
(R32*)
Single nucleotide variant
(nonsense)
Pulmonary fibrosis
GLikely risk allele
TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis
GLikely risk allele
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis
GLikely risk allele
TERC
Single nucleotide variant
(non-coding transcript variant)
Pulmonary fibrosis
GLikely risk allele
TINF2
(K245Q +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
PARN
(Q200* +2 more)
Single nucleotide variant
(nonsense)
Pulmonary fibrosis
GPathogenic
LOC110806263, TERT
(C76*)
Single nucleotide variant
(nonsense +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(A98D)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(T126K)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(L149Q)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(R466P)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(K570N)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(A678D)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
PARN
(W158* +2 more)
Single nucleotide variant
(nonsense)
Pulmonary fibrosis
GPathogenic
TERT
(E800K)
Single nucleotide variant
(missense variant)
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
TERT
(R811C)
Indel
(missense variant)
Dyskeratosis congenita, autosomal dominant 2
GUncertain significance
TERT
(Y825H)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+3 more
GUncertain significance
TERT
(L841F)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
NAF1
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis
GLikely risk allele
TERT
(T874R)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(F883I)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(S894R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
NAF1
(R234P)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
TERT
(E1005K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
SFTPC
(V102M +1 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
SFTPC
(C28Y)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
RTEL1, RTEL1-TNFRSF6B
(P431T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis
GLikely risk allele
RTEL1, RTEL1-TNFRSF6B
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis
GPathogenic
NAF1
(R375*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RTEL1, RTEL1-TNFRSF6B
(L1092P +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
(splice acceptor variant)
Pulmonary fibrosis
GPathogenic
DKC1
(D325G)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
PARN
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis
GLikely risk allele
PARN
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
Deletion
(nonsense)
Pulmonary fibrosis
GLikely risk allele
KIF15
(L527fs)
Deletion
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
(S180fs)
Microsatellite
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
Deletion
(splice acceptor variant)
Pulmonary fibrosis
GLikely risk allele
LOC110806306, TERC
Duplication
(non-coding transcript variant)
Pulmonary fibrosis
GLikely risk allele
TERT
(V1027fs +1 more)
Deletion
(frameshift variant +1 more)
Pulmonary fibrosis
GLikely risk allele
SFTPC
Duplication
(inframe_insertion +1 more)
Pulmonary fibrosis
GLikely risk allele
PARN
(F391S +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
RTEL1, RTEL1-TNFRSF6B
(D513del +2 more)
Deletion
(inframe_deletion +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
PARN
(R190fs +2 more)
Deletion
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
PARN
(D231fs +2 more)
Deletion
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
NAF1
(S145del)
Microsatellite
(inframe_deletion)
Pulmonary fibrosis
GLikely risk allele
NAF1
(T378fs)
Duplication
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
KIF15
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis
GLikely risk allele
DKC1
(R284Q)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
TERT
(H534R)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+1 more
GPathogenic/Likely pathogenic
TERT
(P632L)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GUncertain significance
PARN
Single nucleotide variant
(splice donor variant)
PARN-related condition
+2 more
GLikely pathogenic
TERT
(G110A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GConflicting classifications of pathogenicity
RTEL1, RTEL1-TNFRSF6B
(R12H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(I110fs)
Deletion
(non-coding transcript variant +2 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GPathogenic
TERT
(E793K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(K403R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+2 more
GUncertain significance
TERT
(R908H +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GConflicting classifications of pathogenicity
PARN
(E524fs +2 more)
Deletion
(frameshift variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GPathogenic/Likely pathogenic
PARN
(P176L +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
LOC110806306, TERC
Single nucleotide variant
(non-coding transcript variant)
Dyskeratosis congenita, autosomal dominant 1
GUncertain significance
TERT
(R631W)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
TERT
(R938W)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+8 more
GLikely pathogenic
LOC110806263, TERT
(L77P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+3 more
GConflicting classifications of pathogenicity
TERT
(L103G)
Indel
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+4 more
GUncertain significance
TERT
(R535C)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
PARN
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GLikely benign
PARN
Deletion
(intron variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Familial Interstitial Pneumonia
+1 more
GUncertain significance
PARN
(K56N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
PARN
(N7H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal recessive 6
+2 more
GUncertain significance
PARN
(F358fs +2 more)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GPathogenic
PARN
(E128* +2 more)
Single nucleotide variant
(nonsense)
Familial Interstitial Pneumonia
+1 more
GLikely pathogenic
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+2 more
GLikely pathogenic
PARN
(T235fs +2 more)
Microsatellite
(frameshift variant)
Familial Interstitial Pneumonia
+1 more
GLikely pathogenic
TERT
(L139R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(R351W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
TERT
(G1063S +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GLikely pathogenic
TERT
(P702L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely pathogenic
LOC110806306, TERC
Single nucleotide variant
Dyskeratosis congenita, autosomal dominant 1
GUncertain significance
LOC110806263, TERT
(D43N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
PARN
(S498N +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
TERT
(S335del)
Microsatellite
(inframe_deletion +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
LOC110806263, TERT
(V28G)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(S688C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P671L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+2 more
GUncertain significance
TERT
(H925Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(L350fs)
Microsatellite
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
(C935fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TERT
(G861R)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
TERT
(V694E)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+3 more
GUncertain significance
LOC110806263, TERT
(P65T)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+1 more
GUncertain significance
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