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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
DDR1, GTF2H4
+8 more
Duplication
not provided
GUncertain significance
GTF2H4
(V12I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(A39G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(L48F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(G92S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(K127N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(H161Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(M163T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(S187G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(M254R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(S321L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GTF2H4
(V375M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(T386P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(R392G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(L422P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4
(R457P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H4, VARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GTF2H4, VARS2
Deletion
(3 prime UTR variant)
not provided
GBenign
DDR1, DHX16
+11 more
Copy number gain
not specified
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
ABHD16A, AIF1
+63 more
Duplication
not provided
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
DDR1, GTF2H4
+4 more
Copy number gain
See cases
GUncertain significance
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