"OMIM"[submitter] AND "HSPD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561192	NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)	HSPD1	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GPathogenic
Select item 17557	NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)	HSPD1 (V98I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GPathogenic
Select item 17558	NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly)	HSPD1 (D29G)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 4	GPathogenic

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