ClinVar for MedGen (Select 1644927) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25045971.	NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys) GRCh37: Chr9:138395578 GRCh38: Chr9:135503732	LOC101928525, MRPS2	E164K	Combined oxidative phosphorylation deficiency 36	Uncertain significance	criteria provided, single submitter
Select item 24292602.	NM_016034.5(MRPS2):c.300-2A>G GRCh37: Chr9:138395386 GRCh38: Chr9:135503540	LOC101928525, MRPS2		Combined oxidative phosphorylation deficiency 36	Likely pathogenic (Jan 22, 2023)	criteria provided, single submitter
Select item 11844283.	NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu) GRCh37: Chr9:138395936 GRCh38: Chr9:135504090	LOC101928525, MRPS2	G283E	Combined oxidative phosphorylation deficiency 36, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 11844274.	NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu) GRCh37: Chr9:138392570 GRCh38: Chr9:135500724	MRPS2	S5L	Combined oxidative phosphorylation deficiency 36, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10295735.	NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr) GRCh37: Chr9:138395950 GRCh38: Chr9:135504104	LOC101928525, MRPS2	P288T	Combined oxidative phosphorylation deficiency 36, Inborn genetic diseases	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10295726.	NM_016034.5(MRPS2):c.400C>T (p.His134Tyr) GRCh37: Chr9:138395488 GRCh38: Chr9:135503642	LOC101928525, MRPS2	H134Y	Combined oxidative phosphorylation deficiency 36	Uncertain significance (Feb 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5232257.	NM_016034.5(MRPS2):c.413G>A (p.Arg138His) GRCh37: Chr9:138395501 GRCh38: Chr9:135503655	LOC101928525, MRPS2	R138H	Combined oxidative phosphorylation deficiency 36	Conflicting interpretations of pathogenicity (Mar 19, 2020)	criteria provided, conflicting interpretations
Select item 5232248.	NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn) GRCh37: Chr9:138395428 GRCh38: Chr9:135503582	LOC101928525, MRPS2	D114N	Combined oxidative phosphorylation deficiency 36	Pathogenic (Oct 15, 2018)	criteria provided, single submitter
Select item 5232239.	NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys) GRCh37: Chr9:138395416 GRCh38: Chr9:135503570	LOC101928525, MRPS2	R110C	Combined oxidative phosphorylation deficiency 36	Pathogenic (Nov 13, 2020)	criteria provided, multiple submitters, no conflicts