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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
GDPD1, LINC01476
+20 more
Copy number gain
See cases
GLikely benign
GDPD1, LINC01476
+20 more
Copy number gain
See cases
GBenign
SMG8
(G3A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(V5M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(A14V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(G24R)
Single nucleotide variant
(missense variant)
SMG8-related disorder
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(L60P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(N61I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(R117P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(S136R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(V148fs)
Duplication
(frameshift variant)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(N159S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(H208R)
Single nucleotide variant
(missense variant)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(L211P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG8
(V213L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(P215T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(F227C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SMG8
(F227L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(V250L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(A286G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(N324fs)
Duplication
(frameshift variant)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(V339L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(V339I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(D353H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(R356K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(R378Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(H385Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMG8
(S386N)
Single nucleotide variant
(missense variant)
not provided
GBenign
SMG8
(Q389del)
Microsatellite
(inframe_deletion)
not provided
GLikely benign
SMG8
(G403C)
Single nucleotide variant
(missense variant)
Alzahrani-Kuwahara syndrome
GUncertain significance
SMG8
(L420P)
Single nucleotide variant
(missense variant)
SMG8-related disorder
GUncertain significance
SMG8
(Q446L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(A451P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(A452P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(T471A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(S480N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(Q512fs)
Deletion
(frameshift variant)
Alzahrani-Kuwahara syndrome
GLikely pathogenic
SMG8
(N514fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
(R533Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(F544S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(Y556*)
Duplication
(nonsense)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(K589N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG8
(P590Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMG8
(R604Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(D621E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SMG8
(D659H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(P684S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(A715V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(G717R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(V737I)
Single nucleotide variant
(missense variant)
SMG8-related disorder
GLikely benign
SMG8
(K762E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(P773L)
Single nucleotide variant
(missense variant)
not provided
GBenign
SMG8
(F779S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(L812*)
Single nucleotide variant
(nonsense)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(R828K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(R839*)
Single nucleotide variant
(nonsense)
Alzahrani-Kuwahara syndrome
GPathogenic
SMG8
(P888L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(M908T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG8
(L910R)
Single nucleotide variant
(missense variant)
SMG8-related disorder
GUncertain significance
SMG8
(A917S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG8
Single nucleotide variant
(intron variant)
SMG8-related disorder
GUncertain significance
SMG8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG8
Single nucleotide variant
(3 prime UTR variant)
SMG8-related disorder
GLikely benign
CLTC, DHX40
+8 more
Duplication
not provided
GUncertain significance
AKAP1, APPBP2
+54 more
Duplication
Meckel-Gruber syndrome
+1 more
GUncertain significance
GDPD1, PRR11
+4 more
Copy number gain
not provided
GUncertain significance
GDPD1, PRR11
+4 more
Copy number gain
not provided
GUncertain significance
GDPD1, PPM1E
+4 more
Copy number gain
not provided
GUncertain significance
GDPD1, SMG8
+4 more
Copy number gain
not provided
GUncertain significance
APPBP2, BCAS3
+29 more
Copy number loss
See cases
GPathogenic
DHX40, GDPD1
+5 more
Copy number gain
See cases
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
CLTC, DHX40
+6 more
Copy number gain
See cases
GUncertain significance
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+42 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+65 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
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