RGS18[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +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 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 2469249	NM_130782.3(RGS18):c.7A>C (p.Thr3Pro)	RGS18 (T3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624297	NM_130782.3(RGS18):c.151C>G (p.Leu51Val)	RGS18 (L51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153847	NM_130782.3(RGS18):c.187T>C (p.Ser63Pro)	RGS18 (S63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384297	NM_130782.3(RGS18):c.251G>A (p.Gly84Asp)	RGS18 (G84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297412	NM_130782.3(RGS18):c.267A>T (p.Lys89Asn)	RGS18 (K89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381168	NM_130782.3(RGS18):c.314A>C (p.Lys105Thr)	RGS18 (K105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318025	NM_130782.3(RGS18):c.371A>G (p.Lys124Arg)	RGS18 (K124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153848	NM_130782.3(RGS18):c.439G>A (p.Ala147Thr)	RGS18 (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375003	NM_130782.3(RGS18):c.557A>T (p.Gln186Leu)	RGS18 (Q186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153849	NM_130782.3(RGS18):c.616C>A (p.Pro206Thr)	RGS18 (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618072	NM_130782.3(RGS18):c.643C>G (p.Arg215Gly)	RGS18 (R215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535918	NM_130782.3(RGS18):c.692T>A (p.Val231Asp)	RGS18 (V231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685777	GRCh37/hg19 1q31.2(chr1:191902137-192203705)x1	RGS18	Copy number loss	not provided	GUncertain significance
Select item 2672393	GRCh37/hg19 1q31.2(chr1:192153427-192545495)x1	RGS1, RGS18 +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 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979928	GRCh37/hg19 1q31.2(chr1:191879687-192244991)x1	RGS18	Copy number loss	not provided	GUncertain significance
Select item 814153	GRCh37/hg19 1q31.2(chr1:191542979-192297254)x3	RGS21, RGS18	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 565207	GRCh37/hg19 1q31.1-31.2(chr1:189866906-192524467)x3	RGS18, BRINP3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442449	GRCh37/hg19 1q31.2(chr1:191879687-192239952)x1	RGS18	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic

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Items: 35