RGSL1[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 2595197	NM_001137669.2(RGSL1):c.8G>A (p.Ser3Asn)	RGSL1 (S3N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153945	NM_001137669.2(RGSL1):c.29C>T (p.Thr10Ile)	RGSL1 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359634	NM_001137669.2(RGSL1):c.179A>G (p.Lys60Arg)	RGSL1 (K60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219222	NM_001137669.2(RGSL1):c.188G>C (p.Gly63Ala)	RGSL1 (G63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457359	NM_001137669.2(RGSL1):c.215G>A (p.Arg72Gln)	RGSL1 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289324	NM_001137669.2(RGSL1):c.362A>G (p.Asp121Gly)	RGSL1 (D156G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386334	NM_001137669.2(RGSL1):c.412A>G (p.Thr138Ala)	RGSL1 (T138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153948	NM_001137669.2(RGSL1):c.455T>C (p.Met152Thr)	RGSL1 (M152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153949	NM_001137669.2(RGSL1):c.458A>G (p.Asn153Ser)	RGSL1 (N188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403502	NM_001137669.2(RGSL1):c.512G>A (p.Arg171Lys)	RGSL1 (R171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489444	NM_001137669.2(RGSL1):c.536A>G (p.Gln179Arg)	RGSL1 (Q179R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244782	NM_001137669.2(RGSL1):c.564C>A (p.Ser188Arg)	RGSL1 (S188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533492	NM_001137669.2(RGSL1):c.583T>C (p.Tyr195His)	RGSL1 (Y230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219272	NM_001137669.2(RGSL1):c.622T>C (p.Cys208Arg)	RGSL1 (C208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639618	NM_001137669.2(RGSL1):c.735G>A (p.Arg245=)	RGSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153950	NM_001137669.2(RGSL1):c.739T>G (p.Ser247Ala)	RGSL1 (S282A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153951	NM_001137669.2(RGSL1):c.847T>C (p.Cys283Arg)	RGSL1 (C283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243751	NM_001137669.2(RGSL1):c.946A>C (p.Lys316Gln)	RGSL1 (K316Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480394	NM_001137669.2(RGSL1):c.964A>G (p.Asn322Asp)	RGSL1 (N357D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285493	NM_001137669.2(RGSL1):c.993A>C (p.Glu331Asp)	RGSL1 (E366D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405308	NM_001137669.2(RGSL1):c.1062G>T (p.Lys354Asn)	RGSL1 (K389N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234500	NM_001137669.2(RGSL1):c.1147C>A (p.Pro383Thr)	RGSL1 (P383T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153935	NM_001137669.2(RGSL1):c.1154G>T (p.Arg385Leu)	RGSL1 (R420L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468575	NM_001137669.2(RGSL1):c.1220A>G (p.Gln407Arg)	RGSL1 (Q407R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153936	NM_001137669.2(RGSL1):c.1228C>T (p.Leu410Phe)	RGSL1 (L445F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360016	NM_001137669.2(RGSL1):c.1273C>T (p.Arg425Cys)	RGSL1 (R460C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406353	NM_001137669.2(RGSL1):c.1300G>A (p.Glu434Lys)	RGSL1 (E434K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295592	NM_001137669.2(RGSL1):c.1322T>G (p.Ile441Ser)	RGSL1 (I441S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382126	NM_001137669.2(RGSL1):c.1372C>A (p.Leu458Ile)	RGSL1 (L458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239782	NM_001137669.2(RGSL1):c.1387G>T (p.Asp463Tyr)	RGSL1 (D463Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467898	NM_001137669.2(RGSL1):c.1593G>C (p.Glu531Asp)	RGSL1 (E531D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509206	NM_001137669.2(RGSL1):c.1708T>C (p.Phe570Leu)	RGSL1 (F570L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353279	NM_001137669.2(RGSL1):c.1733C>T (p.Ser578Phe)	RGSL1 (S613F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272219	NM_001137669.2(RGSL1):c.1858A>T (p.Thr620Ser)	RGSL1 (T620S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153938	NM_001137669.2(RGSL1):c.1901C>T (p.Thr634Ile)	RGSL1 (T634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462906	NM_001137669.2(RGSL1):c.1957A>G (p.Thr653Ala)	RGSL1 (T688A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153939	NM_001137669.2(RGSL1):c.1996C>T (p.Arg666Trp)	RGSL1 (R666W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292674	NM_001137669.2(RGSL1):c.2032G>A (p.Val678Ile)	RGSL1 (V713I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153941	NM_001137669.2(RGSL1):c.2069G>T (p.Cys690Phe)	RGSL1 (C690F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473150	NM_001137669.2(RGSL1):c.2167G>A (p.Ala723Thr)	RGSL1 (A723T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215653	NM_001137669.2(RGSL1):c.2176C>T (p.Arg726Cys)	RGSL1 (R761C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214832	NM_001137669.2(RGSL1):c.2195C>T (p.Thr732Ile)	RGSL1 (T732I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478345	NM_001137669.2(RGSL1):c.2333A>G (p.Lys778Arg)	RGSL1 (K813R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205297	NM_001137669.2(RGSL1):c.2391C>A (p.Ser797Arg)	RGSL1 (S832R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153942	NM_001137669.2(RGSL1):c.2417G>A (p.Arg806His)	RGSL1 (R841H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206286	NM_001137669.2(RGSL1):c.2462A>G (p.Tyr821Cys)	RGSL1 (Y821C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537468	NM_001137669.2(RGSL1):c.2515A>G (p.Thr839Ala)	RGSL1 (T874A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390639	NM_001137669.2(RGSL1):c.2516C>T (p.Thr839Ile)	RGSL1 (T839I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529238	NM_001137669.2(RGSL1):c.2624T>C (p.Val875Ala)	RGSL1 (V875A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392505	NM_001137669.2(RGSL1):c.2713C>T (p.Arg905Trp)	RGSL1 (R940W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372372	NM_001137669.2(RGSL1):c.2731G>T (p.Asp911Tyr)	RGSL1 (D911Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153943	NM_001137669.2(RGSL1):c.2836G>A (p.Ala946Thr)	RGSL1 (A946T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153944	NM_001137669.2(RGSL1):c.2908C>T (p.Pro970Ser)	RGSL1 (P970S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266338	NM_001137669.2(RGSL1):c.2912T>A (p.Val971Asp)	RGSL1 (V1006D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365575	NM_001137669.2(RGSL1):c.2929A>G (p.Lys977Glu)	RGSL1 (K1012E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153947	NM_001137669.2(RGSL1):c.3017C>T (p.Thr1006Met)	RGSL1 (T1041M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524491	NM_001137669.2(RGSL1):c.3035C>T (p.Ser1012Leu)	RGSL1 (S1012L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514077	NM_001137669.2(RGSL1):c.3131C>T (p.Ser1044Phe)	RGSL1 (S1044F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244481	NM_001137669.2(RGSL1):c.3163G>A (p.Val1055Met)	RGSL1 (V1055M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743373	NM_001137669.2(RGSL1):c.3216C>T (p.Ile1072=)	RGSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1809410	GRCh37/hg19 1q25.3(chr1:182442865-182609349)x1	RGS16, RGSL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1807935	GRCh37/hg19 1q25.3(chr1:182443031-182609230)x1	RGS16, RGSL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 624465	GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1	DHX9, GLUL +9 more	Copy number loss	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565202	GRCh37/hg19 1q25.3(chr1:182175044-182472426)x1	TEDDM1, RGSL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 94