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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM37
Duplication
(intron variant)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(S549fs +5 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM37
(Q179* +3 more)
Single nucleotide variant
(nonsense +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(R167* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
LOC126862606, TRIM37
(P690fs +6 more)
Deletion
(frameshift variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(L427fs +5 more)
Duplication
(frameshift variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(L548fs +5 more)
Microsatellite
(frameshift variant +1 more)
Mulibrey nanism syndrome
GPathogenic
TRIM37
(Y504* +5 more)
Duplication
(nonsense +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Single nucleotide variant
(splice acceptor variant)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(Q186* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
+1 more
GPathogenic/Likely pathogenic
TRIM37
(L358* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(T196fs +5 more)
Deletion
(frameshift variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(E180* +3 more)
Single nucleotide variant
(nonsense +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(E55* +1 more)
Single nucleotide variant
(nonsense +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(R14*)
Single nucleotide variant
(nonsense +3 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Duplication
(splice donor variant)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(Y159fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM37
(L170fs +3 more)
Microsatellite
(frameshift variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(L568fs +5 more)
Insertion
(frameshift variant +1 more)
Mulibrey nanism syndrome
GPathogenic
TRIM37
Single nucleotide variant
(splice donor variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(R116* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM37
Single nucleotide variant
(splice acceptor variant)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(R422* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
+1 more
GPathogenic
TRIM37
(R520* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM37
Single nucleotide variant
(splice acceptor variant)
Mulibrey nanism syndrome
+1 more
GLikely pathogenic
TRIM37
(Q186fs +5 more)
Duplication
(frameshift variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(Q418* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(A501fs +5 more)
Deletion
(frameshift variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(S5fs)
Microsatellite
(frameshift variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM37
(V423M +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(Q105* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(E12fs +1 more)
Microsatellite
(frameshift variant +2 more)
Mulibrey nanism syndrome
+1 more
GPathogenic
TRIM37
Single nucleotide variant
(splice donor variant)
See cases
+1 more
GLikely pathogenic
TRIM37
(Q170* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mulibrey nanism syndrome
+1 more
GPathogenic/Likely pathogenic
TRIM37
(K115fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
TRIM37
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
GPathogenic
PNPLA7
Single nucleotide variant
(splice donor variant)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(V158I +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(C503Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37, PPM1E
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Copy number loss
Mulibrey nanism syndrome
GPathogenic
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM37
(P516L +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(D544E +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(L107M +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(R196Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM37
(P112S +4 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(A848V +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
GUncertain significance
LOC126862606, TRIM37
(E671K +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
Mulibrey nanism syndrome
+1 more
GConflicting classifications of pathogenicity
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
+1 more
GConflicting classifications of pathogenicity
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM37
(T694I +8 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(M533K +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(A430T +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GBenign
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(intron variant)
Mulibrey nanism syndrome
+1 more
GBenign/Likely benign
TRIM37
(A231fs +5 more)
Insertion
(frameshift variant +1 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
(D590fs +5 more)
Deletion
(frameshift variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(R61* +1 more)
Single nucleotide variant
(nonsense +2 more)
Mulibrey nanism syndrome
+1 more
GPathogenic
LOC130061315, LOC130061316
+9 more
Deletion
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM37
(K679T +5 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRPM3
(V837M +12 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
TRIM37
(Q196* +3 more)
Single nucleotide variant
(nonsense +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Duplication
(genic upstream transcript variant)
not provided
+1 more
GBenign
TRIM37
Single nucleotide variant
(non-coding transcript variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GBenign
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(5 prime UTR variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
(A133G +2 more)
Single nucleotide variant
(missense variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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