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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXA13, LOC107126288
(Q295P)
Single nucleotide variant
(missense variant)
Hand-foot-genital syndrome
GUncertain significance
HOXA13, LOC107126288
(G248fs)
Duplication
(frameshift variant)
Hand-foot-genital syndrome
GLikely pathogenic
HOXA9, HOXA10-HOXA9
+1 more
(A102P)
Single nucleotide variant
(missense variant)
Hand-foot-genital syndrome
GUncertain significance
HOXA13, LOC107126288
(Y290S)
Single nucleotide variant
(missense variant)
Hand-foot-genital syndrome
GLikely pathogenic
HOXA13, LOC107126288
(P59S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HOXA13, LOC107126288
(V16I)
Single nucleotide variant
(missense variant)
Hand-foot-genital syndrome
+2 more
GUncertain significance
HOXA13, LOC107126288
(R88H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HOXA13, LOC107126288
(S176N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HOXA13, LOC107126288
(A167S)
Single nucleotide variant
(missense variant)
Guttmacher syndrome
+2 more
GUncertain significance
HOXA13, LOC107126288
(P166T)
Single nucleotide variant
(missense variant)
Guttmacher syndrome
+2 more
GBenign
HOXA13, LOC107126288
Duplication
(inframe_insertion)
Hand-foot-genital syndrome
GPathogenic/Likely pathogenic
HOXA13, LOC107126288
Single nucleotide variant
(synonymous variant)
Guttmacher syndrome
+2 more
GLikely benign
HOXA13, LOC107126288
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
HOXA13, LOC107126288
Deletion
(inframe_deletion)
Guttmacher syndrome
+2 more
GConflicting classifications of pathogenicity
HOXA13, LOC107126288
Deletion
(inframe_deletion)
not provided
+3 more
GLikely benign
HOXA13, LOC107126288
(S136fs)
Duplication
(frameshift variant)
Hand-foot-genital syndrome
GPathogenic
HOXA13, LOC107126288
Duplication
(inframe_insertion)
Hand-foot-genital syndrome
GPathogenic
HOXA13
(N372H)
Single nucleotide variant
(missense variant)
Hand-foot-genital syndrome
GPathogenic
HOXA13, LOC107126288
Duplication
(inframe_insertion)
Hand-foot-genital syndrome
GPathogenic
HOXA13, LOC107126288
(S136*)
Single nucleotide variant
(nonsense)
Hand-foot-genital syndrome
GPathogenic
HOXA13
(W369*)
Single nucleotide variant
(nonsense)
Hand-foot-genital syndrome
GPathogenic
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