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Links from Gene

Items: 1 to 100 of 181

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAG3
Single nucleotide variant
(synonymous variant)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(non-coding transcript variant +1 more)
CASTOR3-related condition
GLikely benign
STAG3
(N135K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STAG3
(Q1010L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R761P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(V691A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(R859K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(L670V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(M417V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(V980I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(T320A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACHE, ACTL6B
+106 more
Deletion
not provided
GPathogenic
STAG3
(R262H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(Q1153K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(P1081S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(L1026F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(H923R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(E911V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(H86R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
STAG3
(R83P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(S713L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
STAG3
(Y663C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129998914, STAG3
(D571N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R380Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(T377P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACHE, ACTL6B
+93 more
Copy number loss
not specified
GLikely pathogenic
STAG3
(E1125* +2 more)
Single nucleotide variant
(nonsense +1 more)
Premature ovarian failure 8
GLikely pathogenic
STAG3
Single nucleotide variant
(synonymous variant)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(intron variant)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
STAG3-related disorder
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
STAG3-related disorder
GLikely benign
STAG3
(P1045L +1 more)
Single nucleotide variant
(missense variant +1 more)
STAG3-related disorder
GLikely benign
STAG3
(P4L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF3, ZSCAN21
+32 more
Copy number loss
not provided
GUncertain significance
CYP3A4, CYP3A43
+73 more
Copy number loss
not provided
GPathogenic
STAG3
(S1033L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STAG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STAG3
(Q1079E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
STAG3
(R609C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STAG3
(L179fs +1 more)
Deletion
(frameshift variant)
STAG3-related disorder
GLikely pathogenic
LOC129998914, STAG3
(P582R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R229H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129998915, STAG3
(S1162L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(M274V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(P318L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R1195Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(K1065E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ACTL6B, AGFG2
+230 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
STAG3
(N943S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
STAG3
(C784S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(P1048S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R559H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(P1046S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(E398Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(V671A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(S147R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(D717N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(R1018Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R604W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129998914, STAG3
(S563Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(I262V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(A1082G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(A366V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(S20F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(F601L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(D116H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACHE, ACTL6B
+79 more
Duplication
not provided
GUncertain significance
STAG3
(N640Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(A473T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(P791L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
STAG3
(E1183Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(S804G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(E278A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R58S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(R812W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(L1061P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(I138V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(M719L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(Q1098H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(R1090S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(R659H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(P754S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(S23F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(D365N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(V574L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(A386T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(G142R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
(H35R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
STAG3
(A700V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
STAG3
Indel
(non-coding transcript variant +1 more)
Premature ovarian failure 8
GLikely pathogenic
STAG3
(E1066fs +1 more)
Deletion
(frameshift variant +1 more)
Premature ovarian failure 8
GLikely pathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
STAG3
(T854S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
STAG3
(Y150C +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
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