"ATP2A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - 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 446876	NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)	ATP2A1 (E34*)	Single nucleotide variant (nonsense)	Brody myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1156241	NM_004320.6(ATP2A1):c.129T>C (p.Ala43=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (synonymous variant)	ATP2A1-related disorder +1 more	GLikely benign
Select item 585454	NM_004320.6(ATP2A1):c.159G>A (p.Val53=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy +2 more	GConflicting classifications of pathogenicity
Select item 2918220	NM_004320.6(ATP2A1):c.333C>T (p.Asn111=)	ATP2A1	Single nucleotide variant (5 prime UTR variant +1 more)	Brody myopathy +1 more	GLikely benign
Select item 704450	NM_004320.6(ATP2A1):c.342C>T (p.Asn114=)	ATP2A1	Single nucleotide variant (5 prime UTR variant +1 more)	Brody myopathy +2 more	GLikely benign
Select item 3049999	NM_004320.6(ATP2A1):c.343G>T (p.Ala115Ser)	ATP2A1 (A115S)	Single nucleotide variant (5 prime UTR variant +1 more)	ATP2A1-related disorder	GUncertain significance
Select item 1077889	NM_004320.6(ATP2A1):c.369G>A (p.Glu123=)	ATP2A1	Single nucleotide variant (5 prime UTR variant +1 more)	ATP2A1-related disorder +1 more	GLikely benign
Select item 96544	NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 532728	NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)	ATP2A1 (D245N +1 more)	Single nucleotide variant (missense variant)	ATP2A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 387418	NM_004320.6(ATP2A1):c.870C>T (p.Arg290=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related disorder +3 more	GBenign/Likely benign
Select item 384410	NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 432237	NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)	ATP2A1 (R403W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +2 more	GConflicting classifications of pathogenicity
Select item 318775	NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +2 more	GConflicting classifications of pathogenicity
Select item 464076	NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)	ATP2A1 (R476H +1 more)	Single nucleotide variant (missense variant)	ATP2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 318776	NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +2 more	GConflicting classifications of pathogenicity
Select item 446878	NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)	ATP2A1 (S456fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 513272	NM_004320.6(ATP2A1):c.1800G>A (p.Leu600=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +2 more	GLikely benign
Select item 532734	NM_004320.6(ATP2A1):c.2046G>A (p.Ser682=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related disorder +1 more	GLikely benign
Select item 1493787	NM_004320.6(ATP2A1):c.2322-2A>G	ATP2A1	Single nucleotide variant (splice acceptor variant)	Brody myopathy +1 more	GLikely pathogenic
Select item 464085	NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)	ATP2A1 (R697fs +1 more)	Duplication (frameshift variant)	Brody myopathy +2 more	GPathogenic/Likely pathogenic
Select item 718044	NM_004320.6(ATP2A1):c.2520C>T (p.Ile840=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GLikely benign
Select item 532731	NM_004320.6(ATP2A1):c.2943C>T (p.Asp981=)	ATP2A1	Single nucleotide variant (synonymous variant)	ATP2A1-related disorder +1 more	GLikely benign

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