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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MNS1, TEX9
(P464L)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 9, autosomal, with male infertility
GUncertain significance
MNS1
(C23*)
Indel
(nonsense)
Heterotaxy, visceral, 9, autosomal, with male infertility
GPathogenic
MNS1, TEX9
(Q203fs)
Duplication
(frameshift variant +1 more)
Heterotaxy, visceral, 9, autosomal, with male infertility
GPathogenic
MNS1, TEX9
(E226del)
Microsatellite
(intron variant)
Heterotaxy, visceral, 9, autosomal, with male infertility
GLikely pathogenic
MNS1, TEX9
(R388Q)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 9, autosomal, with male infertility
GUncertain significance
MNS1, TEX9
(R180*)
Single nucleotide variant
(nonsense +1 more)
Heterotaxy, visceral, 9, autosomal, with male infertility
GLikely pathogenic
MNS1, TEX9
(E125D)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 9, autosomal, with male infertility
GUncertain significance
MNS1, TEX9
(R242*)
Single nucleotide variant
(nonsense +1 more)
MNS1-related disorder
+1 more
GPathogenic/Likely pathogenic
MNS1, TEX9
(E136fs)
Microsatellite
(frameshift variant)
Situs inversus
GLikely pathogenic
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