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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM83H
(F489fs)
Deletion
(frameshift variant)
Amelogenesis imperfecta, hypocalcification type
GLikely benign
FAM83H
(L500V)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta, hypocalcification type
GUncertain significance
FAM83H
(Q459*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(H437*)
Indel
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(V314fs)
Duplication
(frameshift variant)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(Q455*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(K639*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(Q444*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(E610*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(H437*)
Indel
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
(G557C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAM83H
(V309fs)
Deletion
(frameshift variant)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
FAM83H
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAM83H
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAM83H
(P498L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
FAM83H
(W460*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, type 3A
+1 more
GPathogenic
FAM83H
(Q470*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
+1 more
GPathogenic
FAM83H
(Q677*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FAM83H
(R325*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta, hypocalcification type
GPathogenic
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