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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
PPP1R10
(M906T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G895E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(P875L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G869D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(H862Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(R860W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(S808R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(P803L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G786C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G772R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G759R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G728V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G695R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(R693L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PPP1R10
(P683L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(P672L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(P672S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G621S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(Q603P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(H595R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(G576A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PPP1R10
(D523E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(R483Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(N479S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(R465W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(A432V)
Single nucleotide variant
(missense variant +1 more)
Delayed speech and language development
+3 more
GUncertain significance
PPP1R10
(E403A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(R391W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(P379A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(A368V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPP1R10
(P362L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(L312P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(V249I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PPP1R10
Single nucleotide variant
(intron variant)
not provided
GBenign
PPP1R10
(E186D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(A153V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
(S138I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PPP1R10
(V64A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126859644, PPP1R10
(S36G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859644, PPP1R10
(R21Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R10
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
LRRC1, LRRC73
+427 more
Copy number gain
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
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