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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+712 more
Copy number gain
See cases
GPathogenic
C12orf42
(T157K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
C12orf42
(S36R)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
C12orf42
(I34N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
C12orf42, CHST11
+115 more
Copy number loss
See cases
GUncertain significance
C12orf42, CHST11
+10 more
Copy number gain
not provided
GUncertain significance
ABTB3, ACACB
+74 more
Copy number loss
not specified
GLikely pathogenic
ACTR6, ALDH1L2
+39 more
Copy number gain
not specified
GUncertain significance
ASCL1, C12orf42
Copy number gain
not provided
GUncertain significance
TXNRD1, UQCC6
+23 more
Copy number loss
not provided
GUncertain significance
C12orf42
Copy number loss
not provided
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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