"MRPS2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1601052	NM_016034.5(MRPS2):c.89C>A (p.Thr30Asn)	MRPS2 (T30N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2457491	NM_016034.5(MRPS2):c.140T>A (p.Leu47His)	MRPS2 (L47H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3051888	NM_016034.5(MRPS2):c.169+9G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3041063	NM_016034.5(MRPS2):c.170-4G>A	MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3047417	NM_016034.5(MRPS2):c.204G>A (p.Lys68=)	MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 3055007	NM_016034.5(MRPS2):c.299+7G>A	MRPS2	Single nucleotide variant (intron variant)	MRPS2-related disorder	GLikely benign
Select item 3052588	NM_016034.5(MRPS2):c.300-9C>T	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2710238	NM_016034.5(MRPS2):c.312G>A (p.Pro104=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder +1 more	GBenign
Select item 3036546	NM_016034.5(MRPS2):c.329G>A (p.Arg110His)	LOC101928525, MRPS2 (R110H)	Single nucleotide variant (non-coding transcript variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 2056694	NM_016034.5(MRPS2):c.456G>A (p.Ser152=)	LOC101928525, MRPS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2043677	NM_016034.5(MRPS2):c.472A>G (p.Met158Val)	LOC101928525, MRPS2 (M158V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1589986	NM_016034.5(MRPS2):c.479G>A (p.Arg160His)	LOC101928525, MRPS2 (R160H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3045063	NM_016034.5(MRPS2):c.495C>T (p.Tyr165=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	MRPS2-related disorder	GLikely benign
Select item 1600054	NM_016034.5(MRPS2):c.570G>A (p.Pro190=)	LOC101928525, MRPS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1184428	NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)	LOC101928525, MRPS2 (G283E)	Single nucleotide variant (missense variant +1 more)	MRPS2-related disorder +2 more	GConflicting classifications of pathogenicity