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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCM1
(E627del +3 more)
Microsatellite
(inframe deletion +1 more)
PCM1-related disorder
GLikely benign
PCM1
(D723V +3 more)
Single nucleotide variant
(missense variant +1 more)
PCM1-related disorder
GLikely benign
PCM1
Single nucleotide variant
(intron variant)
PCM1-related disorder
GLikely benign
PCM1
(N1131H +3 more)
Single nucleotide variant
(missense variant +1 more)
PCM1-related disorder
GLikely benign
PCM1
(T1175A +3 more)
Single nucleotide variant
(missense variant +1 more)
PCM1-related disorder
+1 more
GLikely benign
PCM1
(V1230L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
PCM1
(F1780L +15 more)
Single nucleotide variant
(missense variant +2 more)
PCM1-related disorder
GUncertain significance
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