ClinVar for Gene (Select 55644) - ClinVar - NCBI

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	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 3303599	NM_017807.4(OSGEP):c.722T>C (p.Leu241Pro)	OSGEP (L241P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3234497	NM_017807.4(OSGEP):c.517G>A (p.Asp173Asn)	OSGEP (D173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3043358	NM_017807.4(OSGEP):c.507+4dup	OSGEP	Duplication (intron variant)	OSGEP-related disorder	GLikely benign
Select item 3032477	NM_017807.4(OSGEP):c.968+9T>C	OSGEP	Single nucleotide variant (intron variant)	OSGEP-related disorder	GLikely benign
Select item 3032320	NM_017807.4(OSGEP):c.968+7G>C	OSGEP	Single nucleotide variant (intron variant)	OSGEP-related disorder	GLikely benign
Select item 3011918	NM_017807.4(OSGEP):c.869+16del	OSGEP	Deletion (intron variant)	not provided	GLikely benign
Select item 2983663	NM_017807.4(OSGEP):c.703-18C>T	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963666	NM_017807.4(OSGEP):c.426G>A (p.Ser142=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided	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 2896892	NM_017807.4(OSGEP):c.504G>A (p.Leu168=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2881878	NM_017807.4(OSGEP):c.557+9A>T	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858428	NM_017807.4(OSGEP):c.637-15T>C	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2727471	NM_017807.4(OSGEP):c.507+17G>T	OSGEP	Single nucleotide variant (intron 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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 2614536	NM_017807.4(OSGEP):c.450_497dup (p.Arg166_Val167insGluThrIleAspIleAlaValGlyAsnCysLeuAspArgPheAlaArg)	OSGEP	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
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 2609101	NM_017807.4(OSGEP):c.604G>A (p.Val202Ile)	OSGEP (V202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594286	NM_017807.4(OSGEP):c.925G>A (p.Ala309Thr)	OSGEP (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584900	NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr)	OSGEP (C292Y)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 2490402	NM_017807.4(OSGEP):c.745A>G (p.Met249Val)	OSGEP (M249V)	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 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2386354	NM_017807.4(OSGEP):c.589G>A (p.Val197Ile)	OSGEP (V197I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372758	NM_017807.4(OSGEP):c.536A>G (p.Asn179Ser)	OSGEP (N179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325223	NM_017807.4(OSGEP):c.412G>A (p.Val138Met)	OSGEP (V138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305517	NM_017807.4(OSGEP):c.487C>T (p.Arg163Cys)	OSGEP (R163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304225	NM_017807.4(OSGEP):c.508A>T (p.Ile170Phe)	OSGEP (I170F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2185240	NM_017807.4(OSGEP):c.676C>T (p.Pro226Ser)	OSGEP (P226S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173908	NM_017807.4(OSGEP):c.971A>G (p.Tyr324Cys)	OSGEP (Y324C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170804	NM_017807.4(OSGEP):c.969G>A (p.Arg323=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141882	NM_017807.4(OSGEP):c.434G>A (p.Arg145His)	OSGEP (R145H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115392	NM_017807.4(OSGEP):c.637-14C>T	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2075447	NM_017807.4(OSGEP):c.457A>G (p.Ile153Val)	OSGEP (I153V)	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 2056511	NM_017807.4(OSGEP):c.769G>T (p.Ala257Ser)	OSGEP (A257S)	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 2019605	NM_017807.4(OSGEP):c.558-4A>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017912	NM_017807.4(OSGEP):c.973C>G (p.Arg325Gly)	OSGEP (R325G)	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 2002672	NM_017807.4(OSGEP):c.703-2A>C	OSGEP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1976064	NM_017807.4(OSGEP):c.431A>G (p.His144Arg)	OSGEP (H144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969772	NM_017807.4(OSGEP):c.747G>A (p.Met249Ile)	OSGEP (M249I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968458	NM_017807.4(OSGEP):c.847C>T (p.Arg283Trp)	OSGEP (R283W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963406	NM_017807.4(OSGEP):c.869+20G>C	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956635	NM_017807.4(OSGEP):c.804G>A (p.Arg268=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948135	NM_017807.4(OSGEP):c.823A>G (p.Thr275Ala)	OSGEP (T275A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935467	NM_017807.4(OSGEP):c.516C>T (p.Asn172=)	OSGEP	Single nucleotide variant (synonymous 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 1916593	NM_017807.4(OSGEP):c.860C>T (p.Thr287Ile)	OSGEP (T287I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1916163	NM_017807.4(OSGEP):c.791G>C (p.Gly264Ala)	OSGEP (G264A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915986	NM_017807.4(OSGEP):c.411+15C>T	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915192	NM_017807.4(OSGEP):c.956G>A (p.Gly319Glu)	OSGEP (G319E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1913278	NM_017807.4(OSGEP):c.115+20A>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906728	NM_017807.4(OSGEP):c.685C>A (p.Leu229Met)	OSGEP (L229M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904564	NM_017807.4(OSGEP):c.636+13G>C	OSGEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1684038	NM_017807.4(OSGEP):c.560G>T (p.Gly187Val)	OSGEP (G187V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
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 1601232	NM_017807.4(OSGEP):c.870-16CT[2]	OSGEP	Microsatellite (intron variant)	not provided	GBenign
Select item 1582668	NM_017807.4(OSGEP):c.558-16G>A	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1581548	NM_017807.4(OSGEP):c.115+8A>G	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1568327	NM_017807.4(OSGEP):c.968+16C>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1544389	NM_017807.4(OSGEP):c.501G>A (p.Val167=)	OSGEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
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 1483962	NM_017807.4(OSGEP):c.739C>T (p.Arg247Ter)	OSGEP (R247*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1483135	NM_017807.4(OSGEP):c.751C>T (p.His251Tyr)	OSGEP (H251Y)	Single nucleotide variant (missense variant)	not provided +1 more	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 1431992	NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter)	OSGEP (Q255*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1419101	NM_017807.4(OSGEP):c.632T>C (p.Ile211Thr)	OSGEP (I211T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409127	NM_017807.4(OSGEP):c.524G>A (p.Ser175Asn)	OSGEP (S175N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403560	NM_017807.4(OSGEP):c.649C>T (p.Arg217Trp)	OSGEP (R217W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384386	NM_017807.4(OSGEP):c.558-9C>G	OSGEP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1379064	NM_017807.4(OSGEP):c.912G>A (p.Trp304Ter)	OSGEP (W304*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1360520	NM_017807.4(OSGEP):c.820G>A (p.Ala274Thr)	OSGEP (A274T)	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 1331684	NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)	OSGEP (A184T)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance

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