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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP21
(T209R)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GUncertain significance
MMP21
(S435fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 7, autosomal
GLikely pathogenic
MMP21
(I506T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GUncertain significance
MMP21
(T297M)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
+1 more
GUncertain significance
MMP21
(R375C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GUncertain significance
MMP21
(R94P)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GLikely pathogenic
MMP21
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MMP21
(S186I)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GLikely pathogenic
MMP21
(E215K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP21
(K81fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MMP21
(R458*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 7, autosomal
+2 more
GPathogenic/Likely pathogenic
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