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Items: 1 to 100 of 492

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
ABCC11, ABCC12
+210 more
Copy number loss
See cases
GPathogenic
LINC02128, LINC02133
+209 more
Copy number gain
See cases
GPathogenic
ABCC11, ABCC12
+202 more
Copy number loss
See cases
GPathogenic
ABCC11, ABCC12
+204 more
Copy number loss
See cases
GPathogenic
ABCC11, ABCC12
+209 more
Copy number loss
See cases
GPathogenic
ABCC11, ABCC12
+210 more
Copy number loss
See cases
GPathogenic
ADCY7, AKTIP
+171 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
LOC110120583, LOC110120584
+136 more
Copy number loss
See cases
GPathogenic
LINC02168, LINC02169
+675 more
Copy number gain
See cases
GPathogenic
LOC129390791, LOC129390792
+97 more
Copy number loss
See cases
GPathogenic
AKTIP, CAPNS2
+104 more
Copy number loss
See cases
GPathogenic
SALL1
Duplication
(3 prime UTR variant)
Townes-Brocks syndrome 1
GLikely benign
SALL1
Duplication
(3 prime UTR variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Microsatellite
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SALL1
Deletion
(3 prime UTR variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Deletion
(3 prime UTR variant)
Townes-Brocks syndrome 1
GBenign
SALL1
Deletion
(3 prime UTR variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Microsatellite
(3 prime UTR variant)
not provided
GBenign
SALL1
Microsatellite
(3 prime UTR variant)
not provided
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(V1225I +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+2 more
GConflicting classifications of pathogenicity
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(I1224M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(E1316G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+3 more
GBenign/Likely benign
SALL1
(R1313H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SALL1
(R1313C +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SALL1
(L1297R +1 more)
Single nucleotide variant
(missense variant)
SALL1-related condition
+2 more
GUncertain significance
SALL1
(A1195D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
(N1291S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+3 more
GBenign/Likely benign
SALL1
(P1193S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
(E1186K +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(L1185P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL1
(N1184K +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(T1182M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SALL1
(L1181V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
(V1275I +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SALL1
(G1173R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL1
(G1171S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(G1265E +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+3 more
GBenign/Likely benign
SALL1
(I1166V +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(P1164R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL1
(P1164L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(P1164S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SALL1
(A1149V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+2 more
GBenign/Likely benign
SALL1
(N1146S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(S1232R +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GUncertain significance
SALL1
(D1132N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(A1125V +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GBenign/Likely benign
SALL1
(D1123N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
(M1119I +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(V1114F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(G1111D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL1
(G1110V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL1
(G1201S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL1
(R1195Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
Microsatellite
(intron variant)
not specified
+1 more
GBenign/Likely benign
SALL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SALL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SALL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SALL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SALL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SALL1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+3 more
GBenign
SALL1
(S1049L +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(C1042fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SALL1
(N1040D +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(R1031fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(P1030L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL1
(A1125S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(S1019F +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
GUncertain significance
SALL1
(L1113P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
GLikely benign
SALL1
(P1109L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SALL1
(V1011F +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(V1011L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SALL1
(V1011I +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
(P1007A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SALL1
(D1102G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+1 more
GConflicting classifications of pathogenicity
SALL1
(S1082L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(L1081S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SALL1
(S1080L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+2 more
GBenign/Likely benign
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