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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHC1
(R34*)
Single nucleotide variant
(nonsense)
Microcephaly 11, primary, autosomal recessive
GPathogenic
PHC1
(T693A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PHC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PHC1
Single nucleotide variant
(synonymous variant)
Microcephaly 11, primary, autosomal recessive
+1 more
GBenign
PHC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PHC1
(P24L)
Single nucleotide variant
(missense variant)
Microcephaly 11, primary, autosomal recessive
GUncertain significance
PHC1
(M593L)
Single nucleotide variant
(missense variant)
Microcephaly 11, primary, autosomal recessive
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
Microcephaly 11, primary, autosomal recessive
+2 more
GBenign
PHC1
(R876W)
Single nucleotide variant
(missense variant)
Microcephaly 11, primary, autosomal recessive
+1 more
GUncertain significance
PHC1
(L992F)
Single nucleotide variant
(missense variant)
Primary microcephaly
+2 more
GPathogenic/Likely pathogenic
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