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Gene: ATP11A & Disease: HLD24, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2431697	ATP11A	c.110_111delinsTC	p.Ala37Val (p.A37V)	NM_015205.3 M	Indel	VUS	1 +	1
1686851	ATP11A	c.250C>G	p.Gln84Glu (p.Q84E)	NM_015205.3 M	SNV	P	1 +	1
2431697	ATP11A	c.110_111delCAinsTC	p.Ala37Val (p.A37V)	NM_001405661.1	Indel	VUS	1 +	1
	ATP11A	c.110_111delCAinsTC	p.Ala37Val (p.A37V)	NM_001405662.1	Indel	VUS	1 +	1
	ATP11A	c.110_111delCAinsTC	p.Ala37Val (p.A37V)	NM_001405663.1	Indel	VUS	1 +	1
	ATP11A	c.110_111delinsTC	p.Ala37Val (p.A37V)	NM_032189.4	Indel	VUS	1 +	1
1686851	ATP11A	c.250C>G	p.Gln84Glu (p.Q84E)	NM_032189.4	SNV	P	1 +	1

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