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Links from MedGen

Items: 1 to 100 of 679

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PARN
Duplication
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(P113T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(E172K +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(T49I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(K290T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(Q17H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(L571R +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(V314A +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Deletion
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Deletion
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(I231S +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(Q286* +2 more)
Single nucleotide variant
(nonsense)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GPathogenic
PARN
(R5del)
Deletion
(inframe_deletion +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(I498L +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely pathogenic
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely pathogenic
PARN
(R210G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(R454I +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely pathogenic
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(M393L +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(M568V +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(V347L +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(E236G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(K189R +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely pathogenic
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(V184G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(D103V +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(A488T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(V40A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(M289T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(synonymous variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(S112R +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(C241R +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(V360F +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(K250Q +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(Q503* +2 more)
Single nucleotide variant
(nonsense)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GPathogenic
PARN
(L4M +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(E352G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(E135A +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(I52T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(K408E +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(S466C +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(N7T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(G163D +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(L523F +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(R552K +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(D324G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(I354T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(Q593H +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Deletion
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GBenign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(W593R +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(N74D +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(E588K +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(intron variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely benign
PARN
(L203V +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(I415T +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GLikely pathogenic
PARN
(V110A +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(T85R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(Y381C +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(S425G +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
PARN
(D637E +2 more)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
+1 more
GUncertain significance
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