ClinVar for Gene (Select 4952) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372128	NM_000276.4(OCRL):c.719T>G (p.Phe240Cys)	OCRL (F240C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370383	GRCh38/hg38 Xq25-26.1(chrX:129318405-129567341)x2	LOC113875008, OCRL +1 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370382	GRCh38/hg38 Xq25-26.1(chrX:128513670-130118616)x2	APLN, BCORL1 +57 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3369021	NM_000276.4(OCRL):c.656G>T (p.Arg219Leu)	OCRL (R219L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3363626	NM_000276.4(OCRL):c.611A>G (p.Asn204Ser)	OCRL (N204S +1 more)	Single nucleotide variant (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 3356541	NM_000276.4(OCRL):c.2196T>A (p.Leu732=)	OCRL	Single nucleotide variant (synonymous variant)	OCRL-related disorder	GLikely benign
Select item 3348135	NM_000276.4(OCRL):c.2414A>T (p.Tyr805Phe)	OCRL (Y797F +2 more)	Single nucleotide variant (missense variant)	OCRL-related disorder	GUncertain significance
Select item 3345680	NM_000276.4(OCRL):c.1109G>T (p.Cys370Phe)	OCRL (C370F +1 more)	Single nucleotide variant (missense variant)	OCRL-related disorder	GUncertain significance
Select item 3339488	NM_000276.4(OCRL):c.689G>A (p.Arg230Gln)	OCRL (R230Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338819	NM_000276.4(OCRL):c.2581+4A>G	OCRL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338818	NM_000276.4(OCRL):c.199+1G>A	OCRL	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3337416	NM_000276.4(OCRL):c.2500A>G (p.Asn834Asp)	OCRL (N826D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337415	NM_000276.4(OCRL):c.164T>A (p.Ile55Asn)	OCRL (I55N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255506	NM_000276.4(OCRL):c.1490G>A (p.Trp497Ter)	OCRL (W497* +1 more)	Single nucleotide variant (nonsense)	Lowe syndrome	GLikely pathogenic
Select item 3251487	NM_000276.4(OCRL):c.1704C>T (p.Ser568=)	OCRL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3245284	NC_000023.10:g.(?_128674417)_(128975921_?)del	APLN, OCRL +3 more	Deletion	Syndromic X-linked intellectual disability Raymond type	GPathogenic
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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235037	NM_000276.4(OCRL):c.1780C>T (p.Gln594Ter)	OCRL (Q594* +1 more)	Single nucleotide variant (nonsense)	Lowe syndrome	GLikely pathogenic
Select item 3203957	NM_000276.4(OCRL):c.701A>G (p.Tyr234Cys)	OCRL (Y234C +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3203956	NM_000276.4(OCRL):c.1370G>A (p.Arg457His)	OCRL (R457H +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3068859	NM_000276.4(OCRL):c.299A>T (p.Asp100Val)	OCRL (D100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066348	NM_000276.4(OCRL):c.300del (p.Asp100fs)	OCRL (D100fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
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 3063843	NM_000276.4(OCRL):c.439+6A>G	OCRL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062540	GRCh37/hg19 Xq25(chrX:128682285-128690832)	OCRL	Copy number loss	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	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 3062108	NM_000276.4(OCRL):c.1057-2_1057-1del	OCRL	Deletion (splice acceptor variant)	Lowe syndrome	GLikely pathogenic
Select item 3044607	NM_000276.4(OCRL):c.1467-3C>T	OCRL	Single nucleotide variant (intron variant)	OCRL-related disorder	GLikely benign
Select item 3036714	NM_000276.4(OCRL):c.2324G>A (p.Ser775Asn)	OCRL (S767N +2 more)	Single nucleotide variant (missense variant)	OCRL-related disorder	GUncertain significance
Select item 3029485	NM_000276.4(OCRL):c.1683C>T (p.Phe561=)	OCRL	Single nucleotide variant (synonymous variant)	OCRL-related disorder	GLikely benign
Select item 3026713	NM_000276.4(OCRL):c.1654C>T (p.Arg552Cys)	OCRL (R552C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026578	NM_000276.4(OCRL):c.2235A>G (p.Leu745=)	OCRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
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)	Lowe syndrome	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

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