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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFF3
(S247T +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
+1 more
GUncertain significance
AFF3
(S517fs +1 more)
Deletion
(frameshift variant)
KINSSHIP syndrome
GLikely pathogenic
AFF3
(L370F +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GUncertain significance
AFF3
(D506E +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GUncertain significance
AFF3
(G718fs +3 more)
Duplication
(frameshift variant +1 more)
KINSSHIP syndrome
GLikely pathogenic
AFF3
(D246H +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GUncertain significance
AFF3
Single nucleotide variant
(intron variant)
KINSSHIP syndrome
GUncertain significance
AFF3
(P231R +1 more)
Indel
(missense variant)
AFF3-related neurodevelopmental disorders
+1 more
GPathogenic
AFF3
(V260G +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GPathogenic
AFF3
(P256L +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GPathogenic
AFF3
(P231S +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GPathogenic
AFF3
(A258V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AFF3
(A258S +1 more)
Single nucleotide variant
(missense variant)
KINSSHIP syndrome
GPathogenic
AFF3
(A233T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
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