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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
AURKA, BMP7
+91 more
Copy number loss
See cases
GPathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LINC01716, LOC125387309
+4 more
Copy number gain
See cases
GUncertain significance
TFAP2C
(S41G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TFAP2C
(P45A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(Y54F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(P93T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(A112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(S116W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(V136L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(V136L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(A162V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(L167F)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
TFAP2C
(Q173R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(V180A)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
TFAP2C
(M218V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(P290L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(L378H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(C389R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(C389G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFAP2C
(P430R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
AURKA, BCAS1
+13 more
Copy number gain
not provided
GUncertain significance
ANKRD60, APCDD1L
+36 more
Deletion
not provided
GUncertain significance
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
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