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Links from MedGen

Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FERMT1
(E550*)
Single nucleotide variant
(nonsense)
Kindler syndrome
GPathogenic
FERMT1
(W12*)
Single nucleotide variant
(nonsense)
Kindler syndrome
GPathogenic
FERMT1
(C125fs)
Deletion
(frameshift variant)
Kindler syndrome
GLikely pathogenic
FERMT1
Insertion
Kindler syndrome
GPathogenic
FERMT1
(D153fs)
Duplication
(frameshift variant)
Kindler syndrome
Gnot provided
FERMT1
(Q226*)
Single nucleotide variant
(nonsense)
Kindler syndrome
Gnot provided
FERMT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FERMT1
Single nucleotide variant
(splice acceptor variant)
Kindler syndrome
GPathogenic
FERMT1
(R110*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FERMT1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
FERMT1
(Q332*)
Single nucleotide variant
(nonsense)
Kindler syndrome
GPathogenic
FERMT1
Deletion
(splice acceptor variant +1 more)
Kindler syndrome
GPathogenic
FERMT1
(Q460*)
Single nucleotide variant
(nonsense)
Kindler syndrome
GPathogenic
FERMT1
Single nucleotide variant
(splice donor variant)
Kindler syndrome
GPathogenic
FERMT1
(S114*)
Single nucleotide variant
(nonsense)
Kindler syndrome
GPathogenic
FERMT1
(F9fs)
Deletion
(frameshift variant)
Kindler syndrome
GLikely pathogenic
FERMT1
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
(R271G)
Single nucleotide variant
(missense variant)
Kindler syndrome
GUncertain significance
FERMT1
(R288Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FERMT1
(L372R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FERMT1
(D665N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GLikely benign
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
(F436S)
Single nucleotide variant
(missense variant)
Kindler syndrome
GUncertain significance
FERMT1
(D456N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(intron variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
+1 more
GBenign/Likely benign
FERMT1
(A462T)
Single nucleotide variant
(missense variant)
Kindler syndrome
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GLikely benign
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
+1 more
GConflicting classifications of pathogenicity
FERMT1
(G175A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FERMT1
Single nucleotide variant
(intron variant)
Kindler syndrome
+1 more
GConflicting classifications of pathogenicity
FERMT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
(E550K)
Single nucleotide variant
(missense variant)
Kindler syndrome
+2 more
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(3 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1, LOC130065404
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1, LOC130065404
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
GUncertain significance
FERMT1
(R238Q)
Single nucleotide variant
(missense variant)
Kindler syndrome
GUncertain significance
FERMT1
(V543M)
Single nucleotide variant
(missense variant)
FERMT1-related disorder
+2 more
GLikely benign
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
+2 more
GBenign
FERMT1
(R98H)
Single nucleotide variant
(missense variant)
Kindler syndrome
+2 more
GLikely benign
FERMT1
Single nucleotide variant
(intron variant)
Kindler syndrome
+1 more
GPathogenic
FERMT1
(Q226fs)
Duplication
(frameshift variant)
Kindler syndrome
+1 more
GPathogenic
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GLikely benign
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GLikely benign
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GLikely benign
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
Kindler syndrome
GBenign
FERMT1, LOC130065404
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1, LOC130065404
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1, LOC130065404
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
FERMT1
Microsatellite
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
FERMT1
Single nucleotide variant
(5 prime UTR variant)
Kindler syndrome
GUncertain significance
FERMT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
FERMT1
(V18I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
(N22D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FERMT1
Single nucleotide variant
(synonymous variant)
Kindler syndrome
+1 more
GBenign
FERMT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FERMT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FERMT1
(N156S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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