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Links from Gene

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPKC
(A211D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G265D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ITPKC
(R662H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(A516V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(G51E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(E601G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPKC
(G373R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(T291A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G290E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(G25R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(T246S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(E243D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(R232G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(S202F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(H170R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(L120R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(R117S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(S652N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(H624D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G616S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(V610I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(D583N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(E575D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(N567S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(M544V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ITPKC
(H527Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G479A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(T394R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ITPKC
(G266S)
Single nucleotide variant
(missense variant)
ITPKC-related disorder
GLikely benign
ITPKC
Single nucleotide variant
(synonymous variant)
ITPKC-related disorder
GLikely benign
ITPKC
Single nucleotide variant
(intron variant)
ITPKC-related disorder
GLikely benign
ITPKC
Single nucleotide variant
(synonymous variant)
ITPKC-related disorder
GLikely benign
ITPKC
Single nucleotide variant
(3 prime UTR variant)
ITPKC-related disorder
GLikely benign
ITPKC, LOC130064485
Single nucleotide variant
(synonymous variant)
ITPKC-related disorder
GLikely benign
ITPKC
(D143N)
Single nucleotide variant
(missense variant)
ITPKC-related disorder
GLikely benign
ITPKC
Single nucleotide variant
(intron variant)
ITPKC-related disorder
GLikely benign
ITPKC
(G171fs)
Deletion
(frameshift variant)
ITPKC-related disorder
GUncertain significance
ITPKC
(F363C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(Y457H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G265S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(Y316N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(Q253K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(P172L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(H408R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G353S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(Q443R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(D153N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTMAP, AKT2
+84 more
Duplication
TWIST1-related craniosynostosis
+3 more
GUncertain significance
ITPKC
(R428Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(D92E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(D300V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(V601M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(H179R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(V350I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(T549I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(E54A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G81W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(A48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(Q253R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G376D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(R505C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(K252T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(S404F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(M510T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(G424E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(P149Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(P185S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(E340Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(C434S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC
(D426H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ITPKC
(P506S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B, ITPKC
+1 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
ITPKC
Single nucleotide variant
(intron variant)
ITPKC-related disorder
+1 more
GConflicting classifications of pathogenicity
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