"GeneDx"[submitter] AND "OSGEP"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 449687	NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp)	OSGEP (R325W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1274127	NM_017807.4(OSGEP):c.969-34C>T	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444892	NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)	OSGEP (R280C)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3 +2 more	GLikely pathogenic
Select item 1180414	NM_017807.4(OSGEP):c.794-27C>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313290	NM_017807.4(OSGEP):c.778G>C (p.Val260Leu)	OSGEP (V260L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165073	NM_017807.4(OSGEP):c.702+16A>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285732	NM_017807.4(OSGEP):c.636+187A>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222093	NM_017807.4(OSGEP):c.636+176C>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165353	NM_017807.4(OSGEP):c.570A>G (p.Leu190=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168189	NM_017807.4(OSGEP):c.558-17C>T	OSGEP	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1313847	NM_017807.4(OSGEP):c.472G>A (p.Gly158Ser)	OSGEP (G158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164991	NM_017807.4(OSGEP):c.412-17T>A	OSGEP	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1284155	NM_017807.4(OSGEP):c.411+90G>A	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444887	NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	LOC107372315, OSGEP (C110R)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3 +2 more	GPathogenic/Likely pathogenic
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 773039	NM_017807.4(OSGEP):c.236-5C>G	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 1291725	NM_017807.4(OSGEP):c.236-53dup	LOC107372315, OSGEP	Duplication (intron variant)	not provided	GBenign
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 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 1234867	NM_017807.4(OSGEP):c.116-233T>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1253570	NC_000014.9:g.20454835C>A	LOC107372315, OSGEP	Single nucleotide variant	not provided	GBenign
Select item 1236627	NC_000014.9:g.20454848C>A	OSGEP, LOC107372315	Single nucleotide variant	not provided	GBenign
Select item 1282032	NC_000014.9:g.20454990T>G	LOC107372315, OSGEP	Single nucleotide variant	not provided	GBenign
Select item 1275114	NC_000014.9:g.20455138A>C	LOC107372315, OSGEP	Single nucleotide variant	not provided	GBenign
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 31