"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1275198	NM_058004.4(PI4KA):c.6084-71T>G	PI4KA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1179740	NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1283281	NM_058004.4(PI4KA):c.5677-31A>G	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1251385	NM_058004.4(PI4KA):c.5677-37G>A	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2688121	NM_058004.4(PI4KA):c.5462-44C>T	PI4KA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1236354	NM_058004.4(PI4KA):c.5390+38G>A	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1262251	NM_058004.4(PI4KA):c.5117-12C>T	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1281760	NM_058004.4(PI4KA):c.5116+49T>G	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1286549	NM_058004.4(PI4KA):c.4995+53dup	PI4KA	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1241184	NM_058004.4(PI4KA):c.4773+98G>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221760	NM_058004.4(PI4KA):c.4053-15G>C	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1253498	NM_058004.4(PI4KA):c.2987+38A>G	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1239325	NM_058004.4(PI4KA):c.2277+94A>G	PI4KA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1276368	NM_058004.4(PI4KA):c.1821-26G>A	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1224893	NM_058004.4(PI4KA):c.1005+38_1005+40dup	PI4KA	Duplication (intron variant)	not provided +2 more	GBenign
Select item 1231169	NM_058004.4(PI4KA):c.864C>T (p.Cys288=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign