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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSX1
(A233P)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GUncertain significance
MSX1
(T214M)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GUncertain significance
BMPR2
(K477E)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GLikely pathogenic
MSX1
(K228fs)
Deletion
(frameshift variant)
Tooth agenesis, selective, 1
+1 more
GUncertain significance
LOC129992137, MSX1
(P73L)
Single nucleotide variant
(missense variant)
Orofacial cleft 5
+2 more
GBenign/Likely benign
BMPR2
(V348I)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GLikely benign
MSX1
(R157S)
Single nucleotide variant
(missense variant)
Orofacial cleft 5
+3 more
GConflicting classifications of pathogenicity
MSX1
Duplication
(frameshift variant +1 more)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
(G28fs)
Duplication
(frameshift variant)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
(M67K)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GPathogenic
MSX1
(Q193*)
Single nucleotide variant
(nonsense)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
(S111*)
Single nucleotide variant
(nonsense)
Tooth agenesis, selective, 1
GPathogenic
MSX1
(R202P)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GPathogenic
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