RGS2[gene] - ClinVar

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Items: 29

	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 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 3043677	NM_002923.4(RGS2):c.-3A>G	LOC129932144, RGS2	Single nucleotide variant (5 prime UTR variant)	RGS2-related disorder	GBenign
Select item 2554929	NM_002923.4(RGS2):c.32A>G (p.His11Arg)	LOC129932144, RGS2 (H11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153861	NM_002923.4(RGS2):c.49G>A (p.Asp17Asn)	LOC129932144, RGS2 (D17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403375	NM_002923.4(RGS2):c.68G>A (p.Gly23Asp)	LOC129932144, RGS2 (G23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712093	NM_002923.4(RGS2):c.148C>A (p.Gln50Lys)	RGS2 (Q50K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3153858	NM_002923.4(RGS2):c.203C>T (p.Ala68Val)	LOC129932145, RGS2 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307192	NM_002923.4(RGS2):c.255C>A (p.Asp85Glu)	RGS2 (D85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372899	NM_002923.4(RGS2):c.274+1G>T	RGS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3153860	NM_002923.4(RGS2):c.429A>C (p.Glu143Asp)	RGS2 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554883	NM_002923.4(RGS2):c.517G>A (p.Ala173Thr)	RGS2 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
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 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527481	GRCh37/hg19 1q31.2(chr1:192731793-193391298)	B3GALT2, CDC73 +4 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	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 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: 29