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Links from MedGen

Items: 1 to 100 of 579

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(L676M)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(V55A)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(M293I)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(P443L)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(S450L)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(M441V)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(D702N)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
(K677N)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
(P576T)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(N336S)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(E494fs)
Deletion
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(synonymous variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(T647N)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(P26fs)
Duplication
(frameshift variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(S72C)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(P332T)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(P576A)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
(P615T)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(R561G)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(L340fs)
Deletion
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(R3P)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(P40T)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
Single nucleotide variant
(synonymous variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(S622F)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(Q309H)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(V31M)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
Single nucleotide variant
(splice acceptor variant)
Chromosome 2q32-q33 deletion syndrome
GLikely pathogenic
LOC126806462, SATB2
(P603L)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
(S723fs)
Deletion
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(G116R)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(N48T)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(S5R)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(P256fs)
Duplication
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(synonymous variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(T469P)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GBenign
LOC126806462, SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(intron variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(Q260P)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(R122K)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
(R431C)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(S5N)
Single nucleotide variant
(missense variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(E697K)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(E359Q)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
LOC126806462, SATB2
(D702G)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
(N444S)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GBenign
SATB2
(K464R)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
(E599K)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
(H672R)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
Single nucleotide variant
(synonymous variant)
Chromosome 2q32-q33 deletion syndrome
GLikely benign
SATB2
(V579L)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(L520V)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
LOC126806462, SATB2
Single nucleotide variant
(splice acceptor variant)
Chromosome 2q32-q33 deletion syndrome
GLikely pathogenic
SATB2
(Q305*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(splice donor variant)
Chromosome 2q32-q33 deletion syndrome
+1 more
GLikely pathogenic
SATB2
(S39fs)
Duplication
(frameshift variant +1 more)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(splice acceptor variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
LOC126806462, SATB2
(D702fs)
Deletion
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(Q144*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(K496E)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(E519K)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
Single nucleotide variant
(splice donor variant)
Chromosome 2q32-q33 deletion syndrome
GLikely pathogenic
SATB2
(F222S)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GLikely pathogenic
SATB2
(Q319*)
Single nucleotide variant
(nonsense)
Chromosome 2q32-q33 deletion syndrome
GLikely pathogenic
SATB2
Insertion
(nonsense)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(A417fs)
Deletion
(frameshift variant)
Chromosome 2q32-q33 deletion syndrome
GPathogenic
SATB2
(Y245C)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
SATB2
(E185D)
Single nucleotide variant
(missense variant)
Chromosome 2q32-q33 deletion syndrome
GUncertain significance
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