ClinVar for MedGen (Select 1053792) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251975	NM_032317.3(DNAJC30):c.233C>G (p.Pro78Arg)	DNAJC30 (P78R)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GUncertain significance
Select item 2628016	NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)	DNAJC30 (H77del)	Microsatellite (inframe_deletion)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 2628015	NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)	DNAJC30	Single nucleotide variant (nonsense)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 2628014	NM_032317.3(DNAJC30):c.130_131del (p.Ser44fs)	DNAJC30, LOC129998603 (S44fs)	Deletion (frameshift variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1171027	NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln)	DNAJC30 (L101Q)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1171026	NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser)	DNAJC30 (P78S)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 976691	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	DNAJC30, LOC129998603 (Y51C)	Single nucleotide variant (missense variant)	Leber hereditary optic neuropathy, autosomal recessive +3 more	GPathogenic/Likely pathogenic

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