ClinVar for MedGen (Select 815761) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332797	NM_004426.3(PHC1):c.100C>T (p.Arg34Ter)	PHC1 (R34*)	Single nucleotide variant (nonsense)	Microcephaly 11, primary, autosomal recessive	GPathogenic
Select item 1290013	NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala)	PHC1 (T693A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1271948	NM_004426.3(PHC1):c.93T>A (p.Leu31=)	PHC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252581	NM_004426.3(PHC1):c.369C>T (p.Pro123=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +1 more	GBenign
Select item 1247398	NM_004426.3(PHC1):c.2860+12C>T	PHC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1031420	NM_004426.3(PHC1):c.71C>T (p.Pro24Leu)	PHC1 (P24L)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive	GUncertain significance
Select item 1031419	NM_004426.3(PHC1):c.1777A>T (p.Met593Leu)	PHC1 (M593L)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive	GUncertain significance
Select item 211899	NM_004426.3(PHC1):c.918A>G (p.Arg306=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +2 more	GBenign
Select item 211897	NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp)	PHC1 (R876W)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive +1 more	GUncertain significance
Select item 65406	NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe)	PHC1 (L992F)	Single nucleotide variant (missense variant)	Primary microcephaly +2 more	GPathogenic/Likely pathogenic