"Ambry Genetics"[submitter] AND "OSR2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207192	NM_001142462.3(OSR2):c.139C>G (p.Gln47Glu)	OSR2 (Q47E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224325	NM_001142462.3(OSR2):c.245G>A (p.Arg82His)	OSR2 (R203H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293307	NM_001142462.3(OSR2):c.257C>A (p.Pro86Gln)	OSR2 (P207Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343815	NM_001142462.3(OSR2):c.313G>A (p.Val105Ile)	OSR2 (V105I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207193	NM_001142462.3(OSR2):c.329A>G (p.His110Arg)	OSR2 (H110R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257705	NM_001142462.3(OSR2):c.404A>G (p.Asp135Gly)	OSR2 (D135G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207194	NM_001142462.3(OSR2):c.475C>T (p.Pro159Ser)	OSR2 (P159S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303621	NM_001142462.3(OSR2):c.854G>A (p.Ser285Asn)	OSR2 (A258T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303622	NM_001142462.3(OSR2):c.858C>T (p.Cys286=)	OSR2 (A211V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3303623	NM_001142462.3(OSR2):c.863A>G (p.Gln288Arg)	OSR2 (Q409R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303624	NM_001142462.3(OSR2):c.897G>A (p.Leu299=)	OSR2 (C224Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2281790	NM_001142462.3(OSR2):c.902G>A (p.Arg301Gln)	OSR2 (G226S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance