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Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126807500, LOC126807501
+689 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
LOC129994513, LOC129994514
+200 more
Copy number loss
See cases
GPathogenic
ALDH7A1, C5orf63
+49 more
Copy number loss
See cases
GPathogenic
SLC12A2, LOC129994526
Microsatellite
not provided
GBenign
LOC129994526, SLC12A2
(E2Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
(G14V)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+4 more
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC12A2, LOC129994526
(V18F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129994526, SLC12A2
(P22S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC129994526, SLC12A2
(A38G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2, LOC129994526
(P40L)
Single nucleotide variant
(missense variant +1 more)
Delpire-McNeill syndrome
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
(P43A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A46V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A49P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LOC129994526, SLC12A2
(D52N)
Single nucleotide variant
(missense variant +1 more)
Delpire-McNeill syndrome
GUncertain significance
SLC12A2, LOC129994526
(D52E)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
(E59D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(G60V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
(A62T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A64T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(D66N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
(G67E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
(R70G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(P71S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(L72M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(L72W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
(P76R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(S79R)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
LOC129994526, SLC12A2
(F81L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC129994526, SLC12A2
(A90P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A93S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
SLC12A2-related disorder
+1 more
GUncertain significance
LOC129994526, SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
+1 more
GLikely benign
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
Kilquist syndrome
+3 more
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
+3 more
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_deletion +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A107del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+1 more
GBenign
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A96V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
(A97T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GConflicting classifications of pathogenicity
LOC129994526, SLC12A2
(A97G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GBenign
LOC129994526, SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Deletion
(inframe_deletion +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
LOC129994526, SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
(A101V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
SLC12A2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
SLC12A2
(A107del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SLC12A2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC12A2
(A106E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC12A2
(K114N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC12A2
(T116S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(D119G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC12A2
(G120R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SLC12A2
(G120R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(E121V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(S126C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC12A2
(S126N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC12A2
(P128S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(A129S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(A129D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(G131S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SLC12A2
(S132N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(E133Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
(K136R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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