U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 315

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
PIGT
Single nucleotide variant
not provided
GBenign
PIGT
Microsatellite
not provided
GBenign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(A3V)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PIGT
(M5V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
PIGT
(M5T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PIGT
(L7V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIGT
(L7F)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(A8P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
(A8S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PIGT
(A8V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
(A8G)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GBenign
PIGT
(L14R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIGT
(G16W)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(W20fs)
Deletion
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GPathogenic
PIGT
(W20C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
(C21G)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(E24K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIGT
(P25L)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(D28N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P38L)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(R53L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
(S56L)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(splice acceptor variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GPathogenic/Likely pathogenic
PIGT
(S64P)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PIGT
(Y66fs)
Deletion
(frameshift variant +2 more)
Paroxysmal nocturnal hemoglobinuria 2
Grisk factor
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P70L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGT
(G74V)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(L82fs)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
PIGT
(E84*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
PIGT
(S88P)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PIGT
(Q91*)
Single nucleotide variant
(nonsense +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GPathogenic
PIGT
(Y98C)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(W99G)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(F116Y)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
PIGT
(T119I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
not provided
GBenign
PIGT
Single nucleotide variant
(intron variant)
not provided
GBenign
PIGT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
not provided
GBenign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIGT
(V123L)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
PIGT
(I137M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(L142F)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P153L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(P159L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PIGT
Single nucleotide variant
(splice acceptor variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GPathogenic
PIGT
(R172C +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GConflicting classifications of pathogenicity
PIGT
(L120P +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PIGT
(R76W +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(R178Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GBenign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(C182Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIGT
(T183P +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely pathogenic
PIGT
(E184K +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GConflicting classifications of pathogenicity
PIGT
(W87fs +2 more)
Deletion
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GPathogenic
PIGT
(P86H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
(L91W +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(P138S +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GUncertain significance
PIGT
(P194L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PIGT
(S94I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGT
Single nucleotide variant
(intron variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GLikely benign
PIGT
Duplication
(intron variant)
not provided
+2 more
GBenign
Format
Items per page
Sort by
Choose Destination