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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
ARMH1, ARTN
+88 more
Copy number gain
See cases
GUncertain significance
DPH2, LOC129930398
(L22V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2
(Q15E +1 more)
Single nucleotide variant
(nonsense +2 more)
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
GLikely pathogenic
DPH2
(L4P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2
(G10S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2
(E27* +2 more)
Single nucleotide variant
(missense variant +2 more)
Global developmental delay
+2 more
GUncertain significance
DPH2
(V90L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2
(V90M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
DPH2
(V14L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2
(V16M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2
(R125H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2, LOC126805726
(T18P +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R95W +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2, LOC126805726
(S31T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2, LOC126805726
(S188A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R125C +4 more)
Single nucleotide variant
(missense variant +1 more)
Ventricular septal defect
+3 more
GConflicting classifications of pathogenicity
DPH2, LOC126805726
(R125H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(D83G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R101W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(L161R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(G240E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R128W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R128Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(R134fs +5 more)
Deletion
(frameshift variant +1 more)
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
GLikely pathogenic
DPH2, LOC126805726
(R89L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(G157D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(H167N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(N170K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(Q115* +5 more)
Single nucleotide variant
(nonsense +1 more)
Ventricular septal defect
+3 more
GConflicting classifications of pathogenicity
DPH2, LOC126805726
(A117V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(P174T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(N181S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(L190P +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(G217D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(P180S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPH2, LOC126805726
(P328H +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH2, LOC126805726
(A255T +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH2, LOC126805726
(R235H +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH2, LOC126805726
(G272V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH2, LOC126805726
(T467M +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH2, LOC126805726
(R249* +6 more)
Single nucleotide variant
(nonsense)
diphthamide-deficiency syndrome
GLikely pathogenic
DPH2, LOC126805726
(R249Q +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARTN, ATP6V0B
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
ARTN, ATP6V0B
+6 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AKR1A1, ARMH1
+39 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AKR1A1, ARMH1
+36 more
Copy number gain
See cases
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
ARTN, ATP6V0B
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GLikely pathogenic
IPO13, ERI3
+11 more
Copy number loss
not provided
GUncertain significance
ARTN, ATP6V0B
+24 more
Copy number loss
not provided
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+36 more
Copy number loss
See cases
GPathogenic
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