"PreventionGenetics, part of Exact Sciences"[submitter] AND "OSMR"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776041	NM_003999.3(OSMR):c.132G>A (p.Thr44=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder +1 more	GBenign
Select item 3040586	NM_003999.3(OSMR):c.419-8dup	OSMR	Duplication (intron variant)	OSMR-related disorder	GLikely benign
Select item 2353915	NM_003999.3(OSMR):c.461A>C (p.Lys154Thr)	OSMR (K154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3038218	NM_003999.3(OSMR):c.561T>G (p.His187Gln)	OSMR (H187Q)	Single nucleotide variant (missense variant)	OSMR-related disorder	GBenign
Select item 3052239	NM_003999.3(OSMR):c.991+40G>A	OSMR	Single nucleotide variant (3 prime UTR variant +1 more)	OSMR-related disorder	GLikely benign
Select item 719321	NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)	OSMR (V436D +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3042906	NM_003999.3(OSMR):c.1515C>T (p.Cys505=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GLikely benign
Select item 3060097	NM_003999.3(OSMR):c.1579G>A (p.Glu527Lys)	OSMR (E528K +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder	GBenign
Select item 3035225	NM_003999.3(OSMR):c.1585+155G>T	OSMR	Single nucleotide variant (synonymous variant +1 more)	OSMR-related disorder	GBenign
Select item 3044932	NM_003999.3(OSMR):c.1707C>T (p.Leu569=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GLikely benign
Select item 733886	NM_003999.3(OSMR):c.1881C>A (p.Asp627Glu)	OSMR (D627E +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder +1 more	GBenign/Likely benign
Select item 2634333	NM_003999.3(OSMR):c.2420T>C (p.Ile807Thr)	OSMR (I807T +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder	GUncertain significance
Select item 716828	NM_003999.3(OSMR):c.2849C>A (p.Ala950Glu)	OSMR (A951E +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder +1 more	GBenign/Likely benign
Select item 3037356	NM_003999.3(OSMR):c.2877C>G (p.Pro959=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GBenign
Select item 3053615	NM_003999.3(OSMR):c.2880G>A (p.Pro960=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GLikely benign