"ATP8A2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446062	NM_016529.6(ATP8A2):c.76+10G>A	ATP8A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 547903	NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)	ATP8A2 (A53V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1168393	NM_016529.6(ATP8A2):c.462A>C (p.Thr154=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related condition +1 more	GBenign/Likely benign
Select item 2764494	NM_016529.6(ATP8A2):c.1128C>T (p.Ile376=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related condition +1 more	GLikely benign
Select item 932518	NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His)	ATP8A2 (R490H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053355	NM_016529.6(ATP8A2):c.1713-10A>G	ATP8A2	Single nucleotide variant (intron variant)	ATP8A2-related condition	GLikely benign
Select item 1548174	NM_016529.6(ATP8A2):c.1757G>A (p.Arg586Gln)	ATP8A2 (R546Q +1 more)	Single nucleotide variant (missense variant)	ATP8A2-related condition +2 more	GBenign/Likely benign
Select item 522073	NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)	ATP8A2 (R548fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1548985	NM_016529.6(ATP8A2):c.1868-5dup	ATP8A2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1642274	NM_016529.6(ATP8A2):c.1935C>G (p.Val645=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related condition +1 more	GBenign/Likely benign
Select item 994318	NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1165116	NM_016529.6(ATP8A2):c.2304C>A (p.Thr768=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related condition +1 more	GBenign
Select item 3052348	NM_016529.6(ATP8A2):c.2384+4_2384+7del	ATP8A2	Deletion (intron variant)	ATP8A2-related condition	GLikely benign
Select item 3042501	NM_016529.6(ATP8A2):c.3498C>T (p.His1166=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related condition	GLikely benign