ClinVar for MedGen (Select 82814) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254835	NM_017570.5(OPLAH):c.3394G>T (p.Gly1132Trp)	OPLAH (G1132W)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 3067948	XR_001745509.1:n.2038G>A		Single nucleotide variant	5-Oxoprolinase deficiency	GUncertain significance
Select item 3020082	NM_017570.5(OPLAH):c.3508G>A (p.Gly1170Ser)	OPLAH (G1170S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GBenign
Select item 3017064	NM_017570.5(OPLAH):c.3249_3250delinsTT (p.Gln1084Ter)	OPLAH (Q1084*)	Indel (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 3016028	NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 3006978	NM_017570.5(OPLAH):c.540A>G (p.Leu180=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2974079	NM_017570.5(OPLAH):c.554G>T (p.Arg185Leu)	OPLAH (R185L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2968516	NM_017570.5(OPLAH):c.1278C>T (p.Ala426=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2965373	NM_017570.5(OPLAH):c.1802G>A (p.Arg601His)	OPLAH (R601H)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2958051	NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2916754	NM_017570.5(OPLAH):c.1423-5C>T	MIR6846, OPLAH	Single nucleotide variant (non-coding transcript variant +1 more)	5-Oxoprolinase deficiency	GLikely benign
Select item 2916402	NM_017570.5(OPLAH):c.1149C>T (p.Tyr383=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2914459	NM_017570.5(OPLAH):c.1377C>T (p.Arg459=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2906305	NM_017570.5(OPLAH):c.2454G>T (p.Leu818=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2900503	NM_017570.5(OPLAH):c.2096+15G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2894841	NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2893668	NM_017570.5(OPLAH):c.3254G>C (p.Arg1085Pro)	OPLAH (R1085P)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2893383	NM_017570.5(OPLAH):c.171+12C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2891157	NM_017570.5(OPLAH):c.2534G>C (p.Arg845Pro)	OPLAH (R845P)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2891003	NM_017570.5(OPLAH):c.1422+16C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2890686	NM_017570.5(OPLAH):c.3721-15C>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2887026	NM_017570.5(OPLAH):c.3154-20G>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2886055	NM_017570.5(OPLAH):c.1140C>T (p.Pro380=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2882169	NM_017570.5(OPLAH):c.463+14C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2870863	NM_017570.5(OPLAH):c.2669del (p.Gly890fs)	OPLAH (G890fs)	Deletion (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 2865240	NM_017570.5(OPLAH):c.2007G>C (p.Gly669=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2864734	NM_017570.5(OPLAH):c.1320C>T (p.Asn440=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign
Select item 2864733	NM_017570.5(OPLAH):c.2190C>T (p.Gly730=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2850340	NM_017570.5(OPLAH):c.1113C>T (p.Pro371=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign
Select item 2850274	NM_017570.5(OPLAH):c.1137A>G (p.Gly379=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2835035	NM_017570.5(OPLAH):c.1652del (p.Leu551fs)	OPLAH (L551fs)	Deletion (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 2780861	NM_017570.5(OPLAH):c.3304-11G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2780792	NM_017570.5(OPLAH):c.783+14G>C	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2776954	NM_017570.5(OPLAH):c.2362dup (p.His788fs)	OPLAH (H788fs)	Duplication (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 2772251	NM_017570.5(OPLAH):c.501G>T (p.Val167=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2770865	NM_017570.5(OPLAH):c.2677C>T (p.Gln893Ter)	OPLAH (Q893*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 2753130	NM_017570.5(OPLAH):c.1824C>T (p.Phe608=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2751601	NM_017570.5(OPLAH):c.204G>A (p.Pro68=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2747921	NM_017570.5(OPLAH):c.934G>A (p.Gly312Ser)	OPLAH (G312S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2746558	NM_017570.5(OPLAH):c.3623-13C>G	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2740220	NM_017570.5(OPLAH):c.870G>A (p.Pro290=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2735850	NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2727239	NM_017570.5(OPLAH):c.1584G>A (p.Val528=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2726227	NM_017570.5(OPLAH):c.3303+9G>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 2720031	NM_017570.5(OPLAH):c.810C>T (p.Ser270=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2713821	NM_017570.5(OPLAH):c.1521G>A (p.Thr507=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2713034	NM_017570.5(OPLAH):c.3177G>C (p.Val1059=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2712670	NM_017570.5(OPLAH):c.2512-5G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2712283	NM_017570.5(OPLAH):c.2514G>A (p.Val838=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2710042	NM_017570.5(OPLAH):c.3462-4G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2696646	NM_017570.5(OPLAH):c.1535+16G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2693814	NM_017570.5(OPLAH):c.876C>T (p.Gly292=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2690663	NM_017570.5(OPLAH):c.2686+1G>T	OPLAH	Single nucleotide variant (splice donor variant)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 2690662	NM_017570.5(OPLAH):c.169C>T (p.Gln57Ter)	OPLAH (Q57*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 2514200	NM_017570.5(OPLAH):c.1883C>T (p.Pro628Leu)	OPLAH (P628L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 2434514	NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)	OPLAH (Q164R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2432374	NM_017570.5(OPLAH):c.3019-2A>G	OPLAH	Single nucleotide variant (splice acceptor variant)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 2420405	NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2414142	NM_017570.5(OPLAH):c.1414C>T (p.Leu472Phe)	OPLAH (L472F)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2202595	NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2197231	NM_017570.5(OPLAH):c.843C>T (p.Ser281=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2196763	NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2195613	NM_017570.5(OPLAH):c.874G>A (p.Gly292Ser)	OPLAH (G292S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2194554	NM_017570.5(OPLAH):c.3612C>G (p.Tyr1204Ter)	OPLAH (Y1204*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 2189317	NM_017570.5(OPLAH):c.447C>T (p.Thr149=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2188785	NM_017570.5(OPLAH):c.1513A>G (p.Met505Val)	OPLAH (M505V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2186506	NM_017570.5(OPLAH):c.466C>T (p.Arg156Cys)	OPLAH (R156C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2183983	NM_017570.5(OPLAH):c.3461+15C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2179856	NM_017570.5(OPLAH):c.463G>A (p.Gly155Ser)	OPLAH (G155S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2173852	NM_017570.5(OPLAH):c.2588C>T (p.Thr863Ile)	OPLAH (T863I)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2173281	NM_017570.5(OPLAH):c.988G>A (p.Glu330Lys)	OPLAH (E330K)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2170076	NM_017570.5(OPLAH):c.172-5C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2169338	NM_017570.5(OPLAH):c.2510C>T (p.Pro837Leu)	OPLAH (P837L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2165775	NM_017570.5(OPLAH):c.363+3G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2162870	NM_017570.5(OPLAH):c.863C>T (p.Ser288Leu)	OPLAH (S288L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2162757	NM_017570.5(OPLAH):c.1862G>T (p.Gly621Val)	OPLAH (G621V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2162196	NM_017570.5(OPLAH):c.587+10G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2161028	NM_017570.5(OPLAH):c.2841C>T (p.Asp947=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2158846	NM_017570.5(OPLAH):c.1331C>T (p.Pro444Leu)	OPLAH (P444L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2158116	NM_017570.5(OPLAH):c.1880G>A (p.Arg627Gln)	OPLAH (R627Q)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2157798	NM_017570.5(OPLAH):c.2975A>C (p.Asp992Ala)	OPLAH (D992A)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2157484	NM_017570.5(OPLAH):c.567G>A (p.Val189=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2155649	NM_017570.5(OPLAH):c.1363A>G (p.Met455Val)	OPLAH (M455V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2155576	NM_017570.5(OPLAH):c.3721-12C>G	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2154895	NM_017570.5(OPLAH):c.811G>A (p.Asp271Asn)	OPLAH (D271N)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2150336	NM_017570.5(OPLAH):c.784-9C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2150104	NM_017570.5(OPLAH):c.2338G>A (p.Gly780Arg)	OPLAH (G780R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2149204	NM_017570.5(OPLAH):c.1156+15C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2148420	NM_017570.5(OPLAH):c.2705G>A (p.Arg902Gln)	OPLAH (R902Q)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2146591	NM_017570.5(OPLAH):c.744C>T (p.Tyr248=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2144182	NM_017570.5(OPLAH):c.864G>A (p.Ser288=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2140401	NM_017570.5(OPLAH):c.1845-14C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 2139631	NM_017570.5(OPLAH):c.2981C>T (p.Ser994Phe)	OPLAH (S994F)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2139474	NM_017570.5(OPLAH):c.2281A>G (p.Ile761Val)	OPLAH (I761V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 2130705	NM_017570.5(OPLAH):c.3823C>T (p.His1275Tyr)	OPLAH (H1275Y)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2124589	NM_017570.5(OPLAH):c.3559C>T (p.Arg1187Cys)	OPLAH (R1187C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2121610	NM_017570.5(OPLAH):c.104T>G (p.Leu35Arg)	OPLAH (L35R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2119052	NM_017570.5(OPLAH):c.684C>T (p.Ile228=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2119050	NM_017570.5(OPLAH):c.1431C>T (p.Gly477=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2117633	NM_017570.5(OPLAH):c.370C>T (p.Pro124Ser)	OPLAH (P124S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance

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