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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ATAT1
(F189C +1 more)
Single nucleotide variant
(missense variant +1 more)
High myopia
GUncertain significance
ATAT1
(H194R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATAT1
(A191E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATAT1
(R205Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATAT1
(P244T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(R234G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(R234C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(S235F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(R260H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(A281T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAT1
(R284H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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