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Items: 1 to 100 of 1419

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
ABCB11, ACVR1
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
IFIH1
Deletion
(3 prime UTR variant)
not provided
GUncertain significance
IFIH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(D1023A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFIH1
(D1023Y)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(C1019fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(E1017G)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(Y1015C)
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
(D1014E)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N1012K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GLikely benign
IFIH1
(N1012S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(T1009R)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(T1009A)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+2 more
GUncertain significance
IFIH1
(P1007H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(K1002N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(K1002T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(K1002*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
IFIH1
(K1001N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(K1001E)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(Y1000H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(K997fs)
Deletion
(frameshift 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)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(N993T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(F991L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(V990I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IFIH1
(V990F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(V988L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IFIH1
(V988I)
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
(R985T)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(I984M)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(I984V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(K983E)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, childhood-onset
+2 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
IFIH1
(C981F)
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
Duplication
(inframe_insertion)
Aicardi-Goutieres syndrome 7
GUncertain significance
IFIH1
(L979W)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GPathogenic
IFIH1
(D978H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(H974Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(H974Y)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+2 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
IFIH1-related condition
+3 more
GConflicting classifications of pathogenicity
IFIH1
(V973M)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(M972L)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(W968*)
Single nucleotide variant
(nonsense)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(A967P)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(A967T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GBenign
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
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GBenign
IFIH1
Single nucleotide variant
(intron variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
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
(Q966H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(Q966*)
Single nucleotide variant
(nonsense)
See cases
GUncertain significance
IFIH1
(G965V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(G965C)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(G965S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+2 more
GConflicting classifications of pathogenicity
IFIH1
(C964Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFIH1
(C962R)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+2 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(G958S)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+2 more
GUncertain significance
IFIH1
(I956K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(I956T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(I956V)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
GPathogenic
IFIH1
(Q955E)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GConflicting classifications of pathogenicity
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(Y954*)
Single nucleotide variant
(nonsense)
Aicardi-Goutieres syndrome 7
+1 more
GUncertain significance
IFIH1
(Y954C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
(D953E)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(D953G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
IFIH1
(D953N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GUncertain significance
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 7
+1 more
GLikely benign
IFIH1
Single nucleotide variant
(synonymous variant)
Singleton-Merten syndrome 1
+1 more
GLikely benign
IFIH1
(K950N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(K949N)
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
(A946T)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GBenign
IFIH1
(N944K)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N944fs)
Deletion
(frameshift variant)
Singleton-Merten syndrome 1
+1 more
GUncertain significance
IFIH1
(N944I)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+2 more
GUncertain significance
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