LOC130064543[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064658	NC_000019.10:g.41983952_42247520del	ATP1A3, DEDD2 +33 more	Deletion	Syndromic intellectual disability	GPathogenic
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1645978	NM_152296.5(ATP1A3):c.6+17C>A	ATP1A3, LOC130064543	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 2201847	NM_152296.5(ATP1A3):c.6+14C>G	ATP1A3, LOC130064543	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1119541	NM_152296.5(ATP1A3):c.6+7G>A	LOC130064543, ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 329434	NM_152296.5(ATP1A3):c.6+3A>G	ATP1A3, LOC130064543	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 99 +6 more	GBenign/Likely benign
Select item 2819467	NM_152296.5(ATP1A3):c.6G>A (p.Gly2=)	ATP1A3, LOC130064543	Single nucleotide variant (synonymous variant)	Dystonia 12	GUncertain significance
Select item 1523480	NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg)	ATP1A3, LOC130064543 (G2R)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 329435	NM_152296.5(ATP1A3):c.-64A>G	ATP1A3, LOC130064543	Single nucleotide variant (5 prime UTR variant)	Dystonia 12 +3 more	GUncertain significance
Select item 329436	NM_152296.5(ATP1A3):c.-130GACG[3]	ATP1A3, LOC130064543	Microsatellite (5 prime UTR variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GUncertain significance
Select item 329437	NM_152296.5(ATP1A3):c.-148T>G	ATP1A3, LOC130064543	Single nucleotide variant (5 prime UTR variant)	Alternating hemiplegia of childhood 2 +3 more	GUncertain significance
Select item 329438	NM_152296.4(ATP1A3):c.-186G>A	ATP1A3, LOC130064543	Single nucleotide variant	Alternating hemiplegia of childhood +1 more	GUncertain significance