ClinVar for MedGen (Select 18145) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064162	NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)	OCRL (Q819* +2 more)	Single nucleotide variant (nonsense)	Lowe syndrome	GPathogenic
Select item 3062108	NM_000276.4(OCRL):c.1057-2_1057-1del	OCRL	Deletion (splice acceptor variant)	Lowe syndrome	GLikely pathogenic
Select item 3022872	NM_000276.4(OCRL):c.2531G>A (p.Arg844Gln)	OCRL (R836Q +2 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 3022705	NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)	OCRL (I739M +2 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 3021609	NM_000276.4(OCRL):c.1056+19G>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 3021526	NM_000276.4(OCRL):c.1626G>A (p.Arg542=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 3018673	NM_000276.4(OCRL):c.1356+17T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 3017244	NM_000276.4(OCRL):c.1244+8G>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 3015891	NM_000276.4(OCRL):c.1110C>T (p.Cys370=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 3013730	NM_000276.4(OCRL):c.516G>T (p.Gly172=)	OCRL	Single nucleotide variant (synonymous variant)	OCRL-related condition +1 more	GLikely benign
Select item 3012734	NM_000276.4(OCRL):c.2470-4A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GUncertain significance
Select item 3012625	NM_000276.4(OCRL):c.114A>G (p.Gln38=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 3008516	NM_000276.4(OCRL):c.2140-12T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 3008020	NM_000276.4(OCRL):c.1971C>A (p.Leu657=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 3003718	NM_000276.4(OCRL):c.1863G>A (p.Glu621=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 3001543	NM_000276.4(OCRL):c.39+15G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 3000261	NM_000276.4(OCRL):c.2469+17T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2999034	NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)	OCRL (M868K +2 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2996656	NM_000276.4(OCRL):c.560+8C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2995198	NM_000276.4(OCRL):c.2140-18T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2991780	NM_000276.4(OCRL):c.2469+12T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2990096	NM_000276.4(OCRL):c.1380A>G (p.Lys460=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2988920	NM_000276.4(OCRL):c.2490A>G (p.Arg830=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2987258	NM_000276.4(OCRL):c.27C>T (p.Ala9=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2980787	NM_000276.4(OCRL):c.1467-11T>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2980481	NM_000276.4(OCRL):c.1357-14C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2979905	NM_000276.4(OCRL):c.1057-6T>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2979348	NM_000276.4(OCRL):c.1359A>C (p.Leu453=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2977556	NM_000276.4(OCRL):c.1905T>C (p.Asp635=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2976498	NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)	OCRL (S183L +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2975652	NM_000276.4(OCRL):c.2097T>G (p.Val699=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2972783	NM_000276.4(OCRL):c.1245-20T>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2972328	NM_000276.4(OCRL):c.2214C>T (p.Ile738=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2971129	NM_000276.4(OCRL):c.2523A>G (p.Ala841=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2970183	NM_000276.4(OCRL):c.1467-16del	OCRL	Deletion (intron variant)	Lowe syndrome	GLikely benign
Select item 2967152	NM_000276.4(OCRL):c.722+11C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2966989	NM_000276.4(OCRL):c.1879+19A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2966947	NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)	OCRL (R241K +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2958565	NM_000276.4(OCRL):c.238+3G>A	OCRL	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2957425	NM_000276.4(OCRL):c.801T>C (p.Asn267=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2955813	NM_000276.4(OCRL):c.349+18G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2955704	NM_000276.4(OCRL):c.2116-8G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2955095	NM_000276.4(OCRL):c.1389T>C (p.Phe463=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2920174	NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)	OCRL (R190P +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2918137	NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)	OCRL (R493Q +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely pathogenic
Select item 2917742	NM_000276.4(OCRL):c.1714-18C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2917575	NM_000276.4(OCRL):c.2341+11C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2916944	NM_000276.4(OCRL):c.439+7A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2915171	NM_000276.4(OCRL):c.318G>A (p.Lys106=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2915085	NM_000276.4(OCRL):c.17C>T (p.Pro6Leu)	LOC113875008, OCRL (P6L)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2913981	NM_000276.4(OCRL):c.1244+20_1244+26dup	OCRL	Duplication (intron variant)	Lowe syndrome	GLikely benign
Select item 2913029	NM_000276.4(OCRL):c.2139+13A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2911324	NM_000276.4(OCRL):c.2470-16C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2909500	NM_000276.4(OCRL):c.423A>G (p.Lys141=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2908549	NM_000276.4(OCRL):c.119+11A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2906573	NM_000276.4(OCRL):c.120-4C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GBenign
Select item 2905546	NM_000276.4(OCRL):c.283C>T (p.Arg95Cys)	OCRL (R96C +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2905511	NM_000276.4(OCRL):c.393C>T (p.Ser131=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2905504	NM_000276.4(OCRL):c.666C>T (p.Leu222=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2904727	NM_000276.4(OCRL):c.349+17C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2903552	NM_000276.4(OCRL):c.1357-10C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2903011	NM_000276.4(OCRL):c.1419C>T (p.Phe473=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2902651	NM_000276.4(OCRL):c.1714-6C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2901275	NM_000276.4(OCRL):c.350-6C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GUncertain significance
Select item 2899720	NM_000276.4(OCRL):c.2139+17G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2899002	NM_000276.4(OCRL):c.29A>T (p.Gln10Leu)	LOC113875008, OCRL (Q10L)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2892035	NM_000276.4(OCRL):c.1467-12_1467-9dup	OCRL	Duplication (intron variant)	Lowe syndrome	GLikely benign
Select item 2891376	NM_000276.4(OCRL):c.119+15G>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2891149	NM_000276.4(OCRL):c.1245-18C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2890771	NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)	OCRL (R190C +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2890714	NM_000276.4(OCRL):c.1350C>T (p.Phe450=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2888816	NM_000276.4(OCRL):c.1479G>A (p.Arg493=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2887880	NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)	OCRL (E585G +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2884882	NM_000276.4(OCRL):c.1887A>G (p.Thr629=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2884407	NM_000276.4(OCRL):c.182A>G (p.His61Arg)	OCRL (H61R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2881091	NM_000276.4(OCRL):c.2256+20C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2879297	NM_000276.4(OCRL):c.2132T>G (p.Leu711Arg)	OCRL (L711R +1 more)	Single nucleotide variant (missense variant +1 more)	Lowe syndrome	GLikely benign
Select item 2876646	NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)	OCRL (T507A +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2875563	NM_000276.4(OCRL):c.239-3dup	OCRL	Duplication (intron variant)	Lowe syndrome	GBenign
Select item 2875143	NM_000276.4(OCRL):c.39+18G>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2873689	NM_000276.4(OCRL):c.200-11T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2873463	NM_000276.4(OCRL):c.1057-7C>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2868849	NM_000276.4(OCRL):c.1185G>C (p.Ala395=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2866897	NM_000276.4(OCRL):c.2535A>G (p.Glu845=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2864332	NM_000276.4(OCRL):c.984C>G (p.Ala328=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2863902	NM_000276.4(OCRL):c.2136A>G (p.Glu712=)	OCRL	Single nucleotide variant (synonymous variant +1 more)	Lowe syndrome	GLikely benign
Select item 2863080	NM_000276.4(OCRL):c.349+2T>G	OCRL	Single nucleotide variant (splice donor variant)	Lowe syndrome	GLikely pathogenic
Select item 2862778	NM_000276.4(OCRL):c.1245-7T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2862677	NM_000276.4(OCRL):c.1764G>A (p.Gln588=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2862365	NM_000276.4(OCRL):c.439+11G>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2861460	NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)	OCRL (E260Q +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2858587	NM_000276.4(OCRL):c.1393G>C (p.Asp465His)	OCRL (D466H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2858520	NM_000276.4(OCRL):c.439+9A>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2856893	NM_000276.4(OCRL):c.439+10del	OCRL	Deletion (intron variant)	Lowe syndrome	GBenign
Select item 2856886	NM_000276.4(OCRL):c.439+10A>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2856352	NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)	OCRL (Q115R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2856068	NM_000276.4(OCRL):c.594G>A (p.Glu198=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2855386	NM_000276.4(OCRL):c.1155A>G (p.Arg385=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2854069	NM_000276.4(OCRL):c.39+16_39+19del	OCRL	Deletion (intron variant)	Lowe syndrome	GLikely benign
Select item 2852561	NM_000276.4(OCRL):c.2007G>A (p.Leu669=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign

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