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Items: 1 to 100 of 755

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
LOC130058535, LOC130058536
+916 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
LOC105371046, LOC105371050
+842 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
ANTKMT, CAPN15
+47 more
Copy number gain
See cases
GBenign
ANTKMT, CAPN15
+45 more
Copy number gain
See cases
GLikely benign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
GBenign
PIGQ
(M1L)
Single nucleotide variant
(missense variant +1 more)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GUncertain significance
PIGQ
(K4N)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(F7V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(P8H)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GBenign
PIGQ
(C10G)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(V12I)
Single nucleotide variant
(missense variant)
Epilepsy
GBenign
PIGQ
(S13L)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(S13W)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(T14A)
Indel
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(T14V)
Inversion
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(T14A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
(T14M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(V24fs)
Duplication
(frameshift variant)
Epilepsy
GPathogenic
PIGQ
(G17R)
Single nucleotide variant
(missense variant)
PIGQ-related disorder
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(R22W)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(R22Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+2 more
GUncertain significance
PIGQ
(W23*)
Single nucleotide variant
(nonsense)
Epilepsy
GPathogenic
PIGQ
(P25L)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
+1 more
GBenign
PIGQ
(E26Q)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(E26G)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(S28C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PIGQ
(S29N)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(V31fs)
Deletion
(frameshift variant)
Epilepsy
GPathogenic
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(V31M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PIGQ
(A34P)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(A34V)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(H37R)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(P39S)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(I41F)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(P42A)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(P42L)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(A50S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GUncertain significance
PIGQ
(R53W)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(R53Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(Q54fs)
Deletion
(frameshift variant)
Epilepsy
GPathogenic
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(V60M)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(V62M)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(G64S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIGQ
(T65I)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(R70W)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(R70Q)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(Q71*)
Single nucleotide variant
(nonsense)
Epilepsy
GPathogenic
PIGQ
(Q71R)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(E72V)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
PIGQ-related disorder
+1 more
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(E74*)
Single nucleotide variant
(nonsense)
Epilepsy
GPathogenic
PIGQ
(E74K)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Deletion
(inframe_deletion)
Epilepsy
GUncertain significance
PIGQ
(E75*)
Single nucleotide variant
(nonsense)
Epilepsy
GPathogenic
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(S76N)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(S76I)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
PIGQ
(G78A)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
Single nucleotide variant
(synonymous variant)
Epilepsy
GLikely benign
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