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Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL1
(H145fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(F85fs)
Deletion
(5 prime UTR variant +1 more)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
Indel
(inframe_indel)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(Q1189* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(V1093G +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(P221fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(S1082L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(L286fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GPathogenic
SALL1
Duplication
(inframe_insertion)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(Q772E +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(R35L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(P130L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
(R660C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SALL1
(S181F +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(G313* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(I613fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(V1011F +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(S496N +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(Q140* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(I144V +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(S165F +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+1 more
GUncertain significance
SALL1
Indel
(nonsense)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(Q104* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GPathogenic/Likely pathogenic
SALL1
(K495R +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+2 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+2 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
(A951V +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
(N1146S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GUncertain significance
SALL1
(L889S +1 more)
Single nucleotide variant
(missense variant)
SALL1-related disorder
+3 more
GUncertain significance
SALL1
(E886Q +1 more)
Single nucleotide variant
(missense variant)
SALL1-related disorder
+2 more
GUncertain significance
SALL1
(R1031fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(I883F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL1
(V1114F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL1
(P242L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+2 more
GUncertain significance
SALL1
(P1164R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SALL1
Single nucleotide variant
(5 prime UTR variant +1 more)
Townes syndrome
+2 more
GBenign/Likely benign
SALL1
(P1007A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SALL1
(T425M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+2 more
GBenign/Likely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+2 more
GBenign/Likely benign
SALL1
(P306S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
(G142R +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(P490T +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Microsatellite
(inframe_insertion)
not provided
+1 more
GUncertain significance
SALL1
(P91fs)
Duplication
(5 prime UTR variant +1 more)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(I1030V +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GUncertain significance
SALL1
(Q852R +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(K359fs +1 more)
Insertion
(frameshift variant)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(P1164L +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(E1186K +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(E528* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(Q194* +1 more)
Single nucleotide variant
(nonsense)
Townes syndrome
+1 more
GPathogenic/Likely pathogenic
SALL1
(I1166V +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(G41S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+2 more
GConflicting classifications of pathogenicity
SALL1
(R666fs +1 more)
Duplication
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(Q587* +1 more)
Single nucleotide variant
(nonsense)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(T1182M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL1
(S837fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GLikely pathogenic
SALL1
(V897fs +1 more)
Duplication
(frameshift variant)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(A235T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SALL1
Single nucleotide variant
(synonymous variant)
Townes-Brocks syndrome 1
+1 more
GLikely benign
SALL1
Microsatellite
(inframe_insertion)
Townes syndrome
+2 more
GBenign/Likely benign
SALL1
(H408R +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
(V1011I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
SALL1
(T183K +1 more)
Single nucleotide variant
(missense variant)
SALL1-related disorder
+2 more
GConflicting classifications of pathogenicity
SALL1
(Q201R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
SALL1
Insertion
(inframe_insertion)
not provided
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
SALL1
(R121G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL1
(P760S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SALL1
(L1067F +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+1 more
GConflicting classifications of pathogenicity
SALL1
(V273fs +1 more)
Deletion
(frameshift variant)
Townes-Brocks syndrome 1
GPathogenic
SALL1
(C1042fs +1 more)
Deletion
(frameshift variant)
Townes syndrome
+2 more
GPathogenic
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+2 more
GLikely benign
SALL1
(D15N)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SALL1
Microsatellite
(inframe_insertion)
not specified
+3 more
GConflicting classifications of pathogenicity
SALL1
Single nucleotide variant
(synonymous variant)
Townes syndrome
+2 more
GBenign/Likely benign
SALL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SALL1
Single nucleotide variant
(synonymous variant)
SALL1-related disorder
+4 more
GBenign/Likely benign
SALL1
Microsatellite
(3 prime UTR variant)
not provided
+1 more
GLikely benign
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
+1 more
GConflicting classifications of pathogenicity
SALL1
Duplication
(3 prime UTR variant)
Townes-Brocks syndrome 1
GUncertain significance
SALL1
Duplication
(3 prime UTR variant)
Townes-Brocks syndrome 1
GLikely benign
SALL1
(G162S +1 more)
Single nucleotide variant
(missense variant)
Townes syndrome
+2 more
GConflicting classifications of pathogenicity
SALL1
(D443E +1 more)
Single nucleotide variant
(missense variant)
Townes-Brocks syndrome 1
+1 more
GUncertain significance
SALL1
(G1265E +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SALL1
Microsatellite
(inframe_insertion)
Townes-Brocks syndrome 1
+3 more
GConflicting classifications of pathogenicity
SALL1
(S159G +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SALL1
Microsatellite
(inframe_insertion)
not specified
+3 more
GBenign/Likely benign
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