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Links from MedGen

Items: 1 to 100 of 1270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFIH1
(R822P)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GLikely pathogenic
IFIH1
(I940F)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(K872Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(I171L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(E632K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(splice donor variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(L754Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Deletion
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GBenign
IFIH1
(F763L)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Deletion
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(S104A)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(Y896S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Insertion
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Insertion
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(F400L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(M878fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(G281C)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(A610D)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(I903L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Deletion
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(L362V)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(D919Y)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N524K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(Q584L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(T932N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(E597Q)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G839R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(I956K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G965C)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(L669R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(T488R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(F987S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(D643V)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(N449H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N469S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(L367V)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(E800D)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(I873S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(R720L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(A263T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(K1001N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(D201A)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(Y896fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(A622T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G495A)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(H759Q)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(V80M)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(P549fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(T616P)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(D621Y)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(M463R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(A300V)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(R689K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G87S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(T76I)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(D514H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(F18L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(A155fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(A180T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N469D)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(E141K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(G334fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(K596R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(M558I)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N863D)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(L362P)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Deletion
(splice donor variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G4A)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(E523Q)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
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