Related gene-specific medical variations for Gene (Select 4952) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380753	NM_000276.4(OCRL):c.12_13delinsTA (p.Leu5Ile)	LOC113875008, OCRL (L5I)	Indel (missense variant)	not provided	GUncertain significance
Select item 3361444	NM_000276.4(OCRL):c.167T>C (p.Ile56Thr)	OCRL (I56T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359899	NM_000276.4(OCRL):c.1265A>G (p.Asp422Gly)	OCRL (D422G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359531	NM_000276.4(OCRL):c.1315A>G (p.Ile439Val)	OCRL (I439V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243717	NC_000023.10:g.(?_128698100)_(128701239_?)del	OCRL	Deletion	Lowe syndrome	GLikely pathogenic
Select item 3243704	NC_000023.10:g.(?_128694507)_(128694648_?)del	OCRL	Deletion	Lowe syndrome	GUncertain significance
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 3062540	GRCh37/hg19 Xq25(chrX:128682285-128690832)	OCRL	Copy number loss	not specified	GPathogenic
Select item 3062108	NM_000276.4(OCRL):c.1057-2_1057-1del	OCRL	Deletion (splice acceptor variant)	Lowe syndrome	GLikely pathogenic
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 2915085	NM_000276.4(OCRL):c.17C>T (p.Pro6Leu)	LOC113875008, OCRL (P6L)	Single nucleotide variant (missense 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 2822912	NM_000276.4(OCRL):c.33G>A (p.Pro11=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2817327	NM_000276.4(OCRL):c.21C>T (p.Val7=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2689637	NM_000276.4(OCRL):c.785T>C (p.Leu262Pro)	OCRL (L262P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689636	NM_000276.4(OCRL):c.916C>T (p.His306Tyr)	OCRL (H306Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661393	NM_000276.4(OCRL):c.18G>A (p.Pro6=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434490	NM_000276.4(OCRL):c.1933A>G (p.Ile645Val)	OCRL (I645V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434488	NM_000276.4(OCRL):c.616A>G (p.Met206Val)	OCRL (M206V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432359	NM_000276.4(OCRL):c.546_547del (p.Val184fs)	OCRL (V184fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2155424	NM_000276.4(OCRL):c.12G>C (p.Pro4=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2136505	NM_000276.4(OCRL):c.15C>G (p.Leu5=)	LOC113875008, OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome	GLikely benign
Select item 2082205	NM_000276.4(OCRL):c.17C>G (p.Pro6Arg)	LOC113875008, OCRL (P6R)	Single nucleotide variant (missense variant)	Lowe syndrome	GLikely benign
Select item 1344666	NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)	OCRL (D523N +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	GPathogenic
Select item 1324829	NM_000276.4(OCRL):c.1684del (p.Leu562fs)	OCRL (L562fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1308690	NC_000023.11:g.128710337_128710338del	OCRL	Deletion	Developmental cataract	GPathogenic
Select item 987115	NM_000276.4(OCRL):c.2414dup (p.Tyr805Ter)	OCRL (Y797* +2 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 987050	NM_000276.4(OCRL):c.1568A>C (p.Asp523Ala)	OCRL (D523A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 977450	NM_000276.4(OCRL):c.19G>T (p.Val7Phe)	LOC113875008, OCRL (V7F)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 976515	NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)	LOC113875008, OCRL (P4L)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GLikely benign
Select item 804207	NM_000276.3(OCRL):c.2557_2558insLINE1	OCRL	Insertion	not provided	GPathogenic
Select item 685713	GRCh37/hg19 Xq25(chrX:128662912-128682275)x2	OCRL	Copy number gain	not provided	GUncertain significance
Select item 562272	NM_000276.4(OCRL):c.952C>A (p.Arg318Ser)	OCRL (R318S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 548654	NM_000276.4(OCRL):c.187_199+449del	OCRL	Deletion (splice donor variant)	Dent disease type 2	GLikely pathogenic
Select item 493546	NM_000276.4(OCRL):c.2139+4A>G	OCRL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 423653	NM_000276.4(OCRL):c.25G>A (p.Ala9Thr)	LOC113875008, OCRL (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 394933	GRCh37/hg19 Xq25(chrX:128674689-128674924)x3	OCRL	Copy number gain	See cases	GBenign
Select item 376875	NM_000276.4(OCRL):c.1095del (p.His365fs)	OCRL (H366fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 370030	NM_000276.4(OCRL):c.239-4023A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome	GPathogenic
Select item 208016	NM_000276.3(OCRL):c.-165-?_238+?del	OCRL	Deletion	Lowe syndrome	GPathogenic
Select item 208015	NM_000276.3(OCRL):c.-165-?_199+?del	OCRL	Deletion	Lowe syndrome	GPathogenic
Select item 208014	OCRL:exon 6-12 del	OCRL	Deletion	Lowe syndrome	GPathogenic
Select item 208013	NG_008638.1:g.(5550_9683)_(13328_22050)del	OCRL	Deletion	Dent disease type 2	GPathogenic
Select item 208012	Single allele	OCRL	Deletion	Dent disease type 2	GPathogenic
Select item 208011	NM_000276.3(OCRL):c.-165-?_*2286+?del	OCRL	Deletion	Lowe syndrome	GPathogenic
Select item 208009	NC_000023.11:g.(129551601)_129559858del	OCRL	Deletion	Lowe syndrome	GPathogenic
Select item 208008	Single allele	OCRL	Variation	Lowe syndrome	GPathogenic
Select item 150233	GRCh38/hg38 Xq26.1(chrX:129569469-129570537)x0	OCRL	Copy number loss	See cases	GLikely pathogenic
Select item 68725	NM_000276.4(OCRL):c.830A>G (p.Gln277Arg)	OCRL (Q277R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68724	NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)	OCRL (I274T +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68723	NM_000276.4(OCRL):c.725T>C (p.Phe242Ser)	OCRL (F242S +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68722	NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg)	OCRL (L891R +2 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68721	NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys)	OCRL (N591K +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68718	NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg)	OCRL (S522R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68717	NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)	OCRL (Y513C +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68716	NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)	OCRL (V508D +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68715	NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)	OCRL (W503R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68714	NM_000276.4(OCRL):c.1495G>C (p.Asp499His)	OCRL (D499H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68713	NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)	OCRL (C498Y +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68711	NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)	OCRL (E468G +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68710	NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)	OCRL (E468K +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68709	NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)	OCRL (F463S +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68708	NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)	OCRL (R457G +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68707	NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)	OCRL (D451G +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68705	NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp)	OCRL (N424D +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68704	NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu)	OCRL (G421E +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68703	NM_000276.4(OCRL):c.1241A>G (p.His414Arg)	OCRL (H414R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68702	NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)	OCRL (H375Y +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68701	NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe)	OCRL (S374F +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68700	NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr)	OCRL (N373Y +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68699	NM_000276.4(OCRL):c.1115T>G (p.Val372Gly)	OCRL (V372G +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68697	NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu)	OCRL (G357E +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome	Gnot provided
Select item 68696	NM_000276.4(OCRL):c.1060A>C (p.Asn354His)	OCRL (N354H +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	Gnot provided
Select item 10856	NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9)	OCRL	Deletion (splice acceptor variant +1 more)	Lowe syndrome	GPathogenic

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Links from Gene

Items: 74