"Genome-Nilou Lab"[submitter] AND "PI4KA"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769146	NM_058004.4(PI4KA):c.6174-5C>T	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1251392	NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided +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 1286017	NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 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 1251294	NM_058004.4(PI4KA):c.5676+39C>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1236335	NM_058004.4(PI4KA):c.5391-34A>C	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	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 1221760	NM_058004.4(PI4KA):c.4053-15G>C	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1293823	NM_058004.4(PI4KA):c.2988-12C>T	PI4KA	Single nucleotide variant (intron variant)	not provided +1 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 1247219	NM_058004.4(PI4KA):c.2329-14T>A	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +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
Select item 1231151	NM_058004.4(PI4KA):c.529+29A>G	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272231	NM_058004.4(PI4KA):c.274-21A>G	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GBenign
Select item 340826	NM_004782.4(SNAP29):c.-19C>T	PI4KA, SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 340830	NM_004782.4(SNAP29):c.18A>G (p.Lys6=)	PI4KA, SNAP29	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22