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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
B3GALT4, COL11A2
+26 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
SLC39A7
(A2V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
SLC39A7
(H9fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
SLC39A7
(H9Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(L15M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(T17N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(W18*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(V25M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(H31fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
SLC39A7
(G30A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A7
(T3I)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(C4F)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(S50P)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC39A7
(H51R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(H51L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(F54L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
SLC39A7
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
SLC39A7
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC39A7
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC39A7
(H58Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC39A7
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC39A7
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC39A7
(T67A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC39A7
(H68Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC39A7
(I71F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(H77fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
SLC39A7
(H77Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(D87N)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC39A7
(H90R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC39A7
(E111K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(G116S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(G124R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC39A7
(K126Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
(L134I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC39A7
(Y137S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC39A7
(Y137F)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Microsatellite
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(A141T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A7
(V18A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(F29C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC39A7
(N36K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A7
(S162C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(P38R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A7
(R164W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(R41P +1 more)
Indel
(missense variant)
not provided
GUncertain significance
SLC39A7
(S42C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
(P65A +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC39A7
(P190L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(H66Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(L193H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
(G205R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC39A7
(H206R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC39A7
Duplication
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC39A7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
(I91T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(L92P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC39A7
(S218F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A7
(V228L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(V108M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A7
(H239fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SLC39A7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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