ClinVar for MedGen (Select 1644927) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377578	NM_016034.5(MRPS2):c.736G>A (p.Val246Met)	LOC101928525, MRPS2 (V246M)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 2671727	NM_016034.5(MRPS2):c.223G>A (p.Val75Ile)	MRPS2 (V75I)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 2504597	NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)	LOC101928525, MRPS2 (E164K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 2429260	NM_016034.5(MRPS2):c.300-2A>G	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GLikely pathogenic
Select item 1184428	NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)	LOC101928525, MRPS2 (G283E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1184427	NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu)	MRPS2 (S5L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1029573	NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)	LOC101928525, MRPS2 (P288T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36 +1 more	GUncertain significance
Select item 1029572	NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)	LOC101928525, MRPS2 (H134Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 992803	NM_016034.5(MRPS2):c.569C>T (p.Pro190Leu)	LOC101928525, MRPS2 (P190L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 36	GUncertain significance
Select item 523225	NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	LOC101928525, MRPS2 (R138H)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GConflicting classifications of pathogenicity
Select item 523224	NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)	MRPS2, LOC101928525 (D114N)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36 +1 more	GConflicting classifications of pathogenicity
Select item 523223	NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)	LOC101928525, MRPS2 (R110C)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 36	GPathogenic