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Links from Gene

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP12
(Y754F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(C629S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(P138R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(P295R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(I739T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S115G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(N627S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(I527V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(Y329H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP12
(N311T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(Q197R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S163L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(I129T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGAP12
(K737N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(K719M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(L600S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(D555N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(R496H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(E340K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(Y376C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(T356A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP12, ZEB1
Copy number gain
not specified
GUncertain significance
ARHGAP12
(I543V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(N512S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ARHGAP12
(A411V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP12
(E362K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP12
(L518F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(A346V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S192I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(R175H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(R684Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(P263L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(N701I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(A439V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(R841C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(N462H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S773N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(A411S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP12
(V15M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(Q124R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(P119A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(N133S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(I355T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(T92P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S120L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP12
(S176L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGAP12
(R548C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ARHGAP12, CCDC7
+9 more
Copy number loss
not provided
GPathogenic
ARHGAP12, ZEB1
Copy number gain
not provided
GUncertain significance
ARHGAP12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF5B, ZEB1
+2 more
Copy number loss
not provided
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
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