OCRL[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308690	NC_000023.11:g.128710337_128710338del	OCRL	Deletion	Developmental cataract	GPathogenic
Select item 1274925	NC_000023.11:g.129539977AT[12]	OCRL	Microsatellite	not provided	GBenign
Select item 1258378	NC_000023.11:g.129539977AT[11]	OCRL	Microsatellite	not provided	GBenign
Select item 1203012	NC_000023.11:g.129539977AT[14]	OCRL	Microsatellite	not provided	GLikely benign
Select item 1289850	NC_000023.11:g.129539977AT[9]	OCRL	Microsatellite	not provided	GBenign
Select item 1205397	NC_000023.11:g.129539987del	OCRL	Deletion	not provided	GLikely benign
Select item 1669311	NM_000276.4(OCRL):c.39+8C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GLikely benign
Select item 745407	NM_000276.4(OCRL):c.39+9C>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 193072	NM_000276.4(OCRL):c.39+10G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2836129	NM_000276.4(OCRL):c.39+14A>C	OCRL	Single nucleotide variant (intron 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 2854069	NM_000276.4(OCRL):c.39+16_39+19del	OCRL	Deletion (intron variant)	Lowe syndrome	GLikely benign
Select item 2172859	NM_000276.4(OCRL):c.39+15G>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 1664572	NM_000276.4(OCRL):c.39+16A>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2815908	NM_000276.4(OCRL):c.39+17A>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2138287	NM_000276.4(OCRL):c.39+17A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2875143	NM_000276.4(OCRL):c.39+18G>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2790796	NM_000276.4(OCRL):c.39+19G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2760598	NM_000276.4(OCRL):c.39+20G>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 1291630	NM_000276.4(OCRL):c.40-119GGGCG[2]	OCRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1207595	NM_000276.4(OCRL):c.40-81_40-80dup	OCRL	Duplication (intron variant)	not provided	GLikely benign
Select item 804084	NM_000276.4(OCRL):c.40-80dup	OCRL	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1282586	NM_000276.4(OCRL):c.40-82_40-81insC	OCRL	Insertion (intron variant)	not provided	GBenign
Select item 2779317	NM_000276.4(OCRL):c.40-20C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2702965	NM_000276.4(OCRL):c.40-11A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2772319	NM_000276.4(OCRL):c.40-8G>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2770931	NM_000276.4(OCRL):c.40-8G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 211780	NM_000276.4(OCRL):c.40-5C>T	OCRL	Single nucleotide variant (splice acceptor variant +1 more)	Nephrolithiasis/nephrocalcinosis +2 more	GConflicting classifications of pathogenicity
Select item 1336606	NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)	OCRL (T15A +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +2 more	GUncertain significance
Select item 129850	NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)	OCRL (T14I +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GBenign/Likely benign
Select item 1385858	NM_000276.4(OCRL):c.43G>C (p.Val15Leu)	OCRL (V15L +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 436102	NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)	OCRL (G17A +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GConflicting classifications of pathogenicity
Select item 1398193	NM_000276.4(OCRL):c.52A>G (p.Met18Val)	OCRL (M18V +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 2196156	NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)	OCRL (P23S +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 1594771	NM_000276.4(OCRL):c.72C>G (p.Leu24=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2779810	NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)	OCRL (R25P +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2829698	NM_000276.4(OCRL):c.75G>A (p.Arg25=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 1966047	NM_000276.4(OCRL):c.78G>A (p.Glu26=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 1428454	NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)	OCRL (T32I +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
Select item 2772024	NM_000276.4(OCRL):c.99C>G (p.Ala33=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2483688	NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)	OCRL (Q34R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 588729	NM_000276.4(OCRL):c.105G>A (p.Arg35=)	OCRL	Single nucleotide variant (synonymous variant)	Dent disease type 2 +3 more	GBenign/Likely benign
Select item 2412679	NM_000276.4(OCRL):c.108del (p.Asn36fs)	OCRL (N36fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 2500926	NM_000276.4(OCRL):c.111del (p.Gln38fs)	OCRL (Q38fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 807814	NM_000276.4(OCRL):c.109G>C (p.Gly37Arg)	OCRL (G38R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
Select item 714917	NM_000276.4(OCRL):c.109G>A (p.Gly37Arg)	OCRL (G38R +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GLikely benign
Select item 3012625	NM_000276.4(OCRL):c.114A>G (p.Gln38=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 1388778	NM_000276.4(OCRL):c.115T>C (p.Tyr39His)	OCRL (Y40H +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2822349	NM_000276.4(OCRL):c.117T>C (p.Tyr39=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2838658	NM_000276.4(OCRL):c.119+8dup	OCRL	Duplication (intron 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 1902764	NM_000276.4(OCRL):c.119+12C>T	OCRL	Single nucleotide variant (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 1290198	NM_000276.4(OCRL):c.120-67G>A	OCRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637796	NM_000276.4(OCRL):c.120-17G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GLikely benign
Select item 2762300	NM_000276.4(OCRL):c.120-5C>T	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 211777	NM_000276.4(OCRL):c.124A>G (p.Ile42Val)	OCRL (I42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2767247	NM_000276.4(OCRL):c.129C>T (p.Ile43=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 1285062	NM_000276.4(OCRL):c.152A>G (p.His51Arg)	OCRL (H51R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1477236	NM_000276.4(OCRL):c.153T>A (p.His51Gln)	OCRL (H51Q +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 2057620	NM_000276.4(OCRL):c.163A>G (p.Ile55Val)	OCRL (I56V +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 1416798	NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)	OCRL (I55T +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
Select item 2796794	NM_000276.4(OCRL):c.165C>A (p.Ile55=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2366822	NM_000276.4(OCRL):c.166A>G (p.Ile56Val)	OCRL (I56V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 29973	NM_000276.4(OCRL):c.167_168del (p.Ile56fs)	OCRL (I56fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GPathogenic
Select item 1997375	NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)	OCRL (S61N +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
Select item 1345494	NM_000276.4(OCRL):c.181C>T (p.His61Tyr)	OCRL (H61Y +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GUncertain significance
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 1910796	NM_000276.4(OCRL):c.183C>T (p.His61=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 548654	NM_000276.4(OCRL):c.187_199+449del	OCRL	Deletion (splice donor variant)	Dent disease type 2	GLikely pathogenic
Select item 2846114	NM_000276.4(OCRL):c.199+10T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 92722	NM_000276.4(OCRL):c.199+16C>G	OCRL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2115794	NM_000276.4(OCRL):c.199+20A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 1300691	NM_000276.4(OCRL):c.199+32A>G	OCRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234936	NM_000276.4(OCRL):c.200-265A>G	OCRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1627201	NM_000276.4(OCRL):c.200-11dup	OCRL	Duplication (intron variant)	Dent disease type 2 +1 more	GBenign/Likely benign
Select item 2873689	NM_000276.4(OCRL):c.200-11T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2828672	NM_000276.4(OCRL):c.200-7dup	OCRL	Duplication (intron variant)	Lowe syndrome	GBenign
Select item 2848862	NM_000276.4(OCRL):c.200-7C>T	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1583972	NM_000276.4(OCRL):c.200-4_200-3del	OCRL	Microsatellite (intron variant)	Lowe syndrome	GBenign
Select item 2751635	NM_000276.4(OCRL):c.200-4T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 2002557	NM_000276.4(OCRL):c.200-3del	OCRL	Deletion (intron variant)	Lowe syndrome	GUncertain significance
Select item 2693623	NM_000276.4(OCRL):c.207A>G (p.Glu69=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 1685996	NM_000276.4(OCRL):c.217_218del (p.Leu73fs)	OCRL (L73fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GPathogenic
Select item 2040267	NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)	OCRL (N80D +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GBenign
Select item 2719316	NM_000276.4(OCRL):c.238_238+1del	OCRL	Deletion (splice donor variant)	Lowe syndrome	GLikely pathogenic
Select item 2958565	NM_000276.4(OCRL):c.238+3G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GUncertain significance
Select item 1917666	NM_000276.4(OCRL):c.238+6T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GUncertain significance
Select item 2785234	NM_000276.4(OCRL):c.238+19G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 370030	NM_000276.4(OCRL):c.239-4023A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GPathogenic
Select item 1629642	NM_000276.4(OCRL):c.239-20T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GBenign
Select item 2875563	NM_000276.4(OCRL):c.239-3dup	OCRL	Duplication (intron variant)	Lowe syndrome	GBenign
Select item 2748196	NM_000276.4(OCRL):c.239-7T>C	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 1940985	NM_000276.4(OCRL):c.239-4T>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GLikely benign
Select item 817444	NM_000276.3(OCRL):c.239delG	OCRL	Deletion	not provided	GPathogenic
Select item 2633832	NM_000276.4(OCRL):c.260del (p.Gln87fs)	OCRL (Q87fs +1 more)	Deletion (frameshift variant)	OCRL-related disorder	GPathogenic
Select item 3062354	NM_000276.4(OCRL):c.263G>A (p.Gly88Glu)	OCRL (G88E +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2199578	NM_000276.4(OCRL):c.265G>C (p.Asp89His)	OCRL (D89H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
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

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