U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
(T22fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(Q456*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V750fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(A404fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(W505*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
LOC107882126, TGM1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(P318fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
(W193*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(A588fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(D116fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
(G309fs)
Indel
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(S85*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(T491M)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
+1 more
GLikely pathogenic
TGM1
(A571fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(R142Q)
Indel
(missense variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(G382fs)
Indel
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
(R225P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(Q662fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V115G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(W250G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(K219E)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(V784L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(D440Y)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(S122*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(G468fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(E133fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TGM1
(I163fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TGM1
(Q292*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V557fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(S364fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V477fs)
Indel
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(E166*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(E548*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(Y257*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(M443fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V112fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(G176fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(G392fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(E497fs)
Indel
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(N428fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(V528fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(N572fs)
Insertion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(I216fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(L543fs)
Insertion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(Y346*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(C377fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(K634fs)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(S272P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
+1 more
GLikely pathogenic
TGM1
(R307Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic/Likely pathogenic
TGM1
(L697*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic
TGM1
(E138fs)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic
TGM1
(R687H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TGM1
(V518fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TGM1
(Q203*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TGM1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 1
GBenign
TGM1
(Q282*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic/Likely pathogenic
TGM1
(Y374C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM1
(S322P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(V181M)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic/Likely pathogenic
TGM1
(I140V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGM1
(K422*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOC107882126, TGM1
Single nucleotide variant
not provided
GBenign
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
(R71*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
+1 more
GPathogenic
TGM1
(R225P)
Indel
(missense variant)
Autosomal recessive congenital ichthyosis 1
GPathogenic
TGM1
(Q683*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 1
GLikely pathogenic
TGM1
(M149V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(R155P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGM1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
(G202R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(P213R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(V258M)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(G313R)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(I361V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(T368A)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(D406N)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(T412A)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
(A585V)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(R607P)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(L614F)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(E635D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TGM1
(G677R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM1
(E729K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGM1
(E748G)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 1
GUncertain significance
TGM1
(G793R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination