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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+123 more
Copy number loss
See cases
GPathogenic
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
TMEM160
(M157V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(G154D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(C151Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(A144V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(L124P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(C109Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(P49A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(A38T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(P24S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(R17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(L13V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064789, TMEM160
(R12L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM160
(G4C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP2S1, ARHGAP35
+25 more
Copy number gain
Coffin-Siris syndrome 12
GLikely pathogenic
AP2S1, ARHGAP35
+18 more
Copy number gain
not specified
GUncertain significance
ZNF541, EHD2
+17 more
Copy number gain
not provided
GUncertain significance
OPA3, PPP1R37
+74 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
AP2S1, ARHGAP35
+33 more
Copy number gain
not provided
GPathogenic
AP2S1, ARHGAP35
+13 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+46 more
Copy number loss
See cases
GLikely pathogenic
ARHGAP35, BBC3
+9 more
Copy number gain
See cases
GLikely pathogenic
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