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Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112577491, LOC112577504
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
AHDC1, CD164L2
+98 more
Copy number loss
See cases
GPathogenic
AHDC1, CD164L2
+88 more
Copy number loss
See cases
GUncertain significance
ADGRB2, AHDC1
+348 more
Copy number gain
See cases
GPathogenic
SLC9A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lichtenstein-Knorr syndrome
GBenign
SLC9A1
(P800L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
(D784E)
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
+1 more
GLikely benign
SLC9A1
(R765W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SLC9A1
(D759N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
SLC9A1
(D758N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(E756Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
(E756K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC9A1
(R746Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
(R746W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
(G743R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
(E736D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
Single nucleotide variant
(non-coding transcript variant +1 more)
Lichtenstein-Knorr syndrome
+1 more
GBenign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(P721L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SLC9A1
(D720G)
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
(I701V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(A688S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
SLC9A1-related disorder
GLikely benign
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)
Lichtenstein-Knorr syndrome
+1 more
GConflicting classifications of pathogenicity
SLC9A1
(R674W)
Single nucleotide variant
(missense variant +1 more)
not specified
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
(A656G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(N637K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(E617K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(H610Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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)
SLC9A1-related disorder
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)
not provided
+1 more
GUncertain significance
SLC9A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC9A1
(N519S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC9A1
(T514M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC9A1
(V508L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
(intron variant)
not provided
GLikely benign
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126805673, SLC9A1
(P475R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126805673, SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126805673, SLC9A1
(S464F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126805673, SLC9A1
(A460D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
SLC9A1, LOC126805673
(I451L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely pathogenic
LOC126805673, SLC9A1
(I441M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126805673, SLC9A1
(I441T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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