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Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(P798L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
(P798R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
(I791V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC9A1
(P786L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(R765W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(E756K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC9A1
(G743R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(P721L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(P710L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC9A1
(M696V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC9A1
(K690N)
Indel
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(R647W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Inversion
(intron variant)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
(R632H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
(R632C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
(E630D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
Lichtenstein-Knorr syndrome
+1 more
GBenign/Likely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(T603del)
Deletion
(inframe_deletion +1 more)
not provided
GBenign
SLC9A1
(G593C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC9A1
Microsatellite
(intron variant)
not provided
GBenign
SLC9A1
Microsatellite
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(H529Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Duplication
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126805673, SLC9A1
(I441M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126805673, SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126805673, SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
(V269I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
(G231S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
(V214M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC9A1
(L177fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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