ClinVar for Gene (Select 5997) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314101	NM_002923.4(RGS2):c.419T>C (p.Ile140Thr)	RGS2 (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
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 3153860	NM_002923.4(RGS2):c.429A>C (p.Glu143Asp)	RGS2 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2554883	NM_002923.4(RGS2):c.517G>A (p.Ala173Thr)	RGS2 (A173T)	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 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +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	NUCKS1, NUDT17 +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 712093	NM_002923.4(RGS2):c.148C>A (p.Gln50Lys)	RGS2 (Q50K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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
Select item 403375	NM_002923.4(RGS2):c.68G>A (p.Gly23Asp)	LOC129932144, RGS2 (G23D)	Single nucleotide variant (missense variant)	not provided +1 more	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 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30