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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA5
(R1439*)
Single nucleotide variant
(nonsense)
Gingival fibromatosis-hypertrichosis syndrome
GLikely pathogenic
ABCA5
(R544fs)
Microsatellite
(frameshift variant)
Gingival fibromatosis-hypertrichosis syndrome
GLikely pathogenic
ABCA5
(R857C)
Single nucleotide variant
(missense variant)
Gingival fibromatosis-hypertrichosis syndrome
GLikely pathogenic
ABCA5
(N190S)
Single nucleotide variant
(missense variant)
Gingival fibromatosis-hypertrichosis syndrome
GLikely benign
ABCA5
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GPathogenic
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