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Links from Gene

Items: 1 to 100 of 639

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDHG@, PCDHGA1
+21 more
(T490I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(H437Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(Q734R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(R377P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(V304M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(R567H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(R740T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(P654S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(P307T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(E361K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(S652N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(P377T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(L425F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(D90N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHGA4, PCDHGA5
+19 more
(S436F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(F715I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+16 more
(S76R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+16 more
(H129Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+16 more
(V505M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+16 more
(G189S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+16 more
(M761T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+16 more
(F520V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(G325D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(L604Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(V501A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(L621M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(S223T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129994855, PCDHG@
+15 more
(R92H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(P466Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(V550A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(D295G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(Q454H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+14 more
(R222I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+12 more
(E276D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+12 more
(D440E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+12 more
(G258D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+12 more
(D159H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+12 more
(A146T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+12 more
(P610L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(P79L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(R57Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(N389H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(L693V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(S376C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(N558S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+13 more
(Y460C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(L109Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(A737T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(P568S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(A698T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(C17Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(M546K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(D181N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(S6N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+11 more
(G574S)
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(V110I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+11 more
(S68T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(A698G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(F314S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(F392V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(Q260K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(E523Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+18 more
(I496M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(P580L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(A683V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(Q601L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(G499E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(C103S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+17 more
(G677V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+15 more
(R33W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+15 more
(S87I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+15 more
(P244L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+15 more
(L81V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHGA9, PCDHGB1
+19 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PCDHG@, PCDHGA1
+11 more
(H244R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PCDHG@, PCDHGA1
+20 more
(Q65fs)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder with poor growth and skeletal anomalies
GLikely pathogenic
PCDHG@, PCDHGA1
+20 more
(K184fs)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder with poor growth and skeletal anomalies
GPathogenic
PCDHG@, PCDHGA1
+17 more
(V452G)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(R222H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+21 more
(T184I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(P174S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(N165H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(P160L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(R141P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(R118C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(V106A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+21 more
(H573D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(G306W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(S231F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(P581T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(L443F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(R439S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+20 more
(V425F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(I320F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(S247Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(R187Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(N89S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(G9R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(E82K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+19 more
(A806T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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