SPICE1[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 3169100	NM_144718.4(SPICE1):c.2554A>T (p.Thr852Ser)	LOC127898559, SPICE1 (T852S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376661	NM_144718.4(SPICE1):c.2552C>G (p.Ser851Cys)	LOC127898559, SPICE1 (S851C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169098	NM_144718.4(SPICE1):c.2495C>T (p.Pro832Leu)	LOC127898559, SPICE1 (P832L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2306350	NM_144718.4(SPICE1):c.2495C>G (p.Pro832Arg)	LOC127898559, SPICE1 (P832R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315313	NM_144718.4(SPICE1):c.2444G>C (p.Gly815Ala)	LOC127898559, SPICE1 (G815A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460088	NM_144718.4(SPICE1):c.2434G>A (p.Gly812Arg)	LOC127898559, SPICE1 (G812R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459822	NM_144718.4(SPICE1):c.2404G>A (p.Val802Ile)	LOC127898559, SPICE1 (V802I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 731731	NM_144718.4(SPICE1):c.2403C>T (p.Pro801=)	LOC127898559, SPICE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2203858	NM_144718.4(SPICE1):c.2293C>T (p.Pro765Ser)	LOC127898559, SPICE1 (P765S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527535	NM_144718.4(SPICE1):c.2191A>T (p.Ile731Phe)	LOC127898559, SPICE1 (I731F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2454418	NM_144718.4(SPICE1):c.2144C>G (p.Thr715Ser)	LOC127898559, SPICE1 (T715S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169097	NM_144718.4(SPICE1):c.2102G>A (p.Arg701Gln)	LOC127898559, SPICE1 (R701Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382639	NM_144718.4(SPICE1):c.2084A>C (p.Glu695Ala)	LOC127898559, SPICE1 (E695A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606901	NM_144718.4(SPICE1):c.2079A>T (p.Arg693Ser)	LOC127898559, SPICE1 (R693S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2397159	NM_144718.4(SPICE1):c.2035A>T (p.Asn679Tyr)	LOC127898559, SPICE1 (N679Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169096	NM_144718.4(SPICE1):c.2023T>A (p.Leu675Met)	LOC127898559, SPICE1 (L675M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2654044	NM_144718.4(SPICE1):c.1907A>C (p.Gln636Pro)	LOC127898559, SPICE1 (Q636P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2212303	NM_144718.4(SPICE1):c.1746G>T (p.Lys582Asn)	LOC127898559, SPICE1 (K582N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169095	NM_144718.4(SPICE1):c.1724A>G (p.Lys575Arg)	LOC127898559, SPICE1 (K575R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263280	NM_144718.4(SPICE1):c.1705A>G (p.Thr569Ala)	LOC127898559, SPICE1 (T569A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481734	NM_144718.4(SPICE1):c.1681C>T (p.Arg561Cys)	LOC127898559, SPICE1 (R561C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169094	NM_144718.4(SPICE1):c.1607T>C (p.Leu536Ser)	LOC127898559, SPICE1 (L536S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462885	NM_144718.4(SPICE1):c.1594C>T (p.Pro532Ser)	LOC127898559, SPICE1 (P532S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364483	NM_144718.4(SPICE1):c.1438C>T (p.Arg480Cys)	LOC127898559, SPICE1 (R480C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549283	NM_144718.4(SPICE1):c.1343A>T (p.His448Leu)	LOC127898559, SPICE1 (H448L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2255467	NM_144718.4(SPICE1):c.1343A>C (p.His448Pro)	LOC127898559, SPICE1 (H448P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408079	NM_144718.4(SPICE1):c.1318G>C (p.Asp440His)	LOC127898559, SPICE1 (D440H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169092	NM_144718.4(SPICE1):c.1264A>G (p.Arg422Gly)	LOC127898559, SPICE1 (R422G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169091	NM_144718.4(SPICE1):c.1232T>C (p.Ile411Thr)	LOC127898559, SPICE1 (I411T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169090	NM_144718.4(SPICE1):c.1174A>G (p.Lys392Glu)	LOC127898559, SPICE1 (K392E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259704	NM_144718.4(SPICE1):c.1171C>T (p.Arg391Cys)	LOC127898559, SPICE1 (R391C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169089	NM_144718.4(SPICE1):c.1156A>C (p.Ser386Arg)	LOC127898559, SPICE1 (S386R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489663	NM_144718.4(SPICE1):c.1084A>C (p.Ser362Arg)	LOC127898559, SPICE1 (S362R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2315890	NM_144718.4(SPICE1):c.1001T>G (p.Leu334Arg)	LOC127898559, SPICE1 (L334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169104	NM_144718.4(SPICE1):c.926C>T (p.Pro309Leu)	LOC127898559, SPICE1 (P309L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550423	NM_144718.4(SPICE1):c.901C>T (p.Pro301Ser)	LOC127898559, SPICE1 (P301S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2455851	NM_144718.4(SPICE1):c.772G>A (p.Ala258Thr)	LOC127898559, SPICE1 (A258T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169103	NM_144718.4(SPICE1):c.718C>T (p.Pro240Ser)	LOC127898559, SPICE1 (P240S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2315891	NM_144718.4(SPICE1):c.709C>G (p.Pro237Ala)	LOC127898559, SPICE1 (P237A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308313	NM_144718.4(SPICE1):c.686C>T (p.Ala229Val)	LOC127898559, SPICE1 (A229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212261	NM_144718.4(SPICE1):c.661T>C (p.Trp221Arg)	LOC127898559, SPICE1 (W221R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493794	NM_144718.4(SPICE1):c.634G>C (p.Glu212Gln)	LOC127898559, SPICE1 (E212Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2455183	NM_144718.4(SPICE1):c.599C>T (p.Thr200Met)	LOC127898559, SPICE1 (T200M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2341548	NM_144718.4(SPICE1):c.431T>C (p.Ile144Thr)	LOC127898559, SPICE1 (I144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372763	NM_144718.4(SPICE1):c.347T>C (p.Ile116Thr)	LOC127898559, SPICE1 (I116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545849	NM_144718.4(SPICE1):c.329A>C (p.Glu110Ala)	LOC127898559, SPICE1 (E110A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381247	NM_144718.4(SPICE1):c.181A>G (p.Arg61Gly)	LOC127898559, SPICE1 (R61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383512	NM_144718.4(SPICE1):c.56C>G (p.Pro19Arg)	LOC127898559, SPICE1 (P19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283881	NM_144718.4(SPICE1):c.56C>T (p.Pro19Leu)	LOC127898559, SPICE1 (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3169101	NM_144718.4(SPICE1):c.25T>A (p.Cys9Ser)	LOC127898559, SPICE1 (C9S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2685091	GRCh37/hg19 3q13.2(chr3:112922764-113199212)x1	BOC, CFAP44 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 814471	GRCh37/hg19 3q13.2(chr3:113045112-113254364)x3	SPICE1, SIDT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 82