"Department of Heart Center, Qingdao Women and Children's Hospital"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987519	NM_018238.4(AGK):c.390G>A (p.Glu130=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome	GLikely pathogenic
Select item 209130	NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	AGK (R137*)	Single nucleotide variant (nonsense)	Sengers syndrome +3 more	GPathogenic
Select item 987518	NM_018238.4(AGK):c.1131+2T>C	AGK	Single nucleotide variant (splice donor variant)	Sengers syndrome	GLikely pathogenic

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