Related gene-specific medical variations for Gene (Select 55644) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303600	NM_017807.4(OSGEP):c.411+1G>A	LOC107372315, OSGEP	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3303598	NM_017807.4(OSGEP):c.374G>C (p.Ser125Thr)	LOC107372315, OSGEP (S125T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3207144	NM_017807.4(OSGEP):c.36T>G (p.Asn12Lys)	LOC107372315, OSGEP (N12K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058137	NM_017807.4(OSGEP):c.236-8C>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	OSGEP-related disorder	GLikely benign
Select item 3050382	NM_017807.4(OSGEP):c.115+9G>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	OSGEP-related disorder	GLikely benign
Select item 2917700	NM_017807.4(OSGEP):c.291C>A (p.Ala97=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904119	NM_017807.4(OSGEP):c.407C>T (p.Thr136Met)	LOC107372315, OSGEP (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888307	NM_017807.4(OSGEP):c.35A>G (p.Asn12Ser)	LOC107372315, OSGEP (N12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759802	NM_017807.4(OSGEP):c.50del (p.Gly17fs)	LOC107372315, OSGEP (G17fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2749850	NM_017807.4(OSGEP):c.81C>T (p.Asn27=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719586	NM_017807.4(OSGEP):c.381C>A (p.Thr127=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663890	NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)	LOC107372315, OSGEP (F40L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 2610587	NM_017807.4(OSGEP):c.203C>T (p.Ser68Phe)	LOC107372315, OSGEP (S68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434516	NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)	OSGEP (F238fs)	Microsatellite (frameshift variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 2231010	NM_017807.4(OSGEP):c.64G>A (p.Gly22Ser)	LOC107372315, OSGEP (G22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227963	NM_017807.4(OSGEP):c.245T>C (p.Met82Thr)	LOC107372315, OSGEP (M82T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227958	NM_017807.4(OSGEP):c.145C>G (p.His49Asp)	LOC107372315, OSGEP (H49D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2087424	NM_017807.4(OSGEP):c.266T>C (p.Val89Ala)	LOC107372315, OSGEP (V89A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063456	NM_017807.4(OSGEP):c.236-12C>A	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057968	NM_017807.4(OSGEP):c.149G>A (p.Arg50Gln)	LOC107372315, OSGEP (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033171	NM_017807.4(OSGEP):c.49G>A (p.Gly17Ser)	LOC107372315, OSGEP (G17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014470	NM_017807.4(OSGEP):c.236-16A>T	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007250	NM_017807.4(OSGEP):c.115+19_115+20insACTTCCCT	LOC107372315, OSGEP	Insertion (intron variant)	not provided	GLikely benign
Select item 1928210	NM_017807.4(OSGEP):c.270T>G (p.Ala90=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915986	NM_017807.4(OSGEP):c.411+15C>T	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913278	NM_017807.4(OSGEP):c.115+20A>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676512	NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)	OSGEP (G122V)	Single nucleotide variant	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 1633921	NM_017807.4(OSGEP):c.236-11T>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581548	NM_017807.4(OSGEP):c.115+8A>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1520586	NM_017807.4(OSGEP):c.254C>A (p.Pro85Gln)	LOC107372315, OSGEP (P85Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514884	NM_017807.4(OSGEP):c.289G>T (p.Ala97Ser)	LOC107372315, OSGEP (A97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511785	NM_017807.4(OSGEP):c.212T>C (p.Ile71Thr)	LOC107372315, OSGEP (I71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470811	NM_017807.4(OSGEP):c.163G>C (p.Asp55His)	LOC107372315, OSGEP (D55H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350340	NM_017807.4(OSGEP):c.382G>A (p.Val128Met)	LOC107372315, OSGEP (V128M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347105	NM_017807.4(OSGEP):c.350G>A (p.Gly117Asp)	LOC107372315, OSGEP (G117D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313289	NM_017807.4(OSGEP):c.88C>T (p.Arg30Trp)	LOC107372315, OSGEP (R30W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1291725	NM_017807.4(OSGEP):c.236-53dup	LOC107372315, OSGEP	Duplication (intron variant)	not provided	GBenign
Select item 1284155	NM_017807.4(OSGEP):c.411+90G>A	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234867	NM_017807.4(OSGEP):c.116-233T>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229728	NM_017807.4(OSGEP):c.236-32T>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221240	NM_017807.4(OSGEP):c.116-142G>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221213	NM_017807.4(OSGEP):c.116-156C>T	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165354	NM_017807.4(OSGEP):c.294A>G (p.Gln98=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1033446	NM_017807.4(OSGEP):c.317G>T (p.Gly106Val)	LOC107372315, OSGEP (G106V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 1004090	NM_017807.4(OSGEP):c.203C>A (p.Ser68Tyr)	LOC107372315, OSGEP (S68Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 974488	NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)	LOC107372315, OSGEP (N27K)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 974487	NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe)	LOC107372315, OSGEP (I53F)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 773039	NM_017807.4(OSGEP):c.236-5C>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749405	NM_017807.4(OSGEP):c.408G>A (p.Thr136=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597378	NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)	LOC107372315, OSGEP (L119F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 521157	NM_017807.4(OSGEP):c.319G>A (p.Val107Met)	OSGEP, LOC107372315 (V107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 449686	NM_017807.4(OSGEP):c.232A>G (p.Lys78Glu)	LOC107372315, OSGEP (K78E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 444891	NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)	LOC107372315, OSGEP (I111T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 444889	NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)	LOC107372315, OSGEP (I14F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 444887	NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	LOC107372315, OSGEP (C110R)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic

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Items: 55