List of variants in gene ATP8A2 reported as pathogenic for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	rs1304109530	0.00001
NM_016529.6(ATP8A2):c.77-2A>G	rs373909734	0.00001
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met)	rs546968533
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_016529.6(ATP8A2):c.2212-1G>C	rs2137911082
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)	rs1593326999
NM_016529.6(ATP8A2):c.3316dup (p.Glu1106fs)
NM_016529.6(ATP8A2):c.649C>T (p.Gln217Ter)
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)	rs2038491713
NM_016529.6(ATP8A2):c.709del (p.Thr237fs)	rs2137994737

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