RGS7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60119	GRCh38/hg38 1q43(chr1:238412092-241098768)x1	CHRM3, CHRM3-AS1 +13 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	OR2G3, OR2G6 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	ADSS2, AHCTF1 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 3153927	NM_001364886.1(RGS7):c.*20C>T	RGS7 (T287M +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282865	NM_001364886.1(RGS7):c.*14C>G	RGS7 (S403C +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 713887	NM_001364886.1(RGS7):c.*9G>C	RGS7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3025043	NM_001364886.1(RGS7):c.1464G>A (p.Leu488=)	RGS7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3153926	NM_001364886.1(RGS7):c.1402G>A (p.Ala468Thr)	RGS7 (A375T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400678	NM_001364886.1(RGS7):c.1379G>A (p.Arg460His)	RGS7 (R367H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527851	NM_001364886.1(RGS7):c.1375G>C (p.Asp459His)	RGS7 (D459H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555189	NM_001364886.1(RGS7):c.1360T>G (p.Ser454Ala)	RGS7 (S454A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215772	NM_001364886.1(RGS7):c.1104C>A (p.Asp368Glu)	RGS7 (D368E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746408	NM_001364886.1(RGS7):c.1071G>A (p.Ser357=)	RGS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334731	NM_001364886.1(RGS7):c.949G>C (p.Glu317Gln)	RGS7 (E291Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591778	NM_001364886.1(RGS7):c.790T>C (p.Tyr264His)	RGS7 (Y239H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153929	NM_001364886.1(RGS7):c.784A>G (p.Ile262Val)	RGS7 (I245V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153928	NM_001364886.1(RGS7):c.712A>G (p.Arg238Gly)	RGS7 (R185G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787765	NM_001364886.1(RGS7):c.627A>G (p.Thr209=)	RGS7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 791845	NM_001364886.1(RGS7):c.597G>A (p.Val199=)	RGS7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2249205	NM_001364886.1(RGS7):c.421G>C (p.Ala141Pro)	RGS7 (A124P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249087	NM_001364886.1(RGS7):c.414A>C (p.Gln138His)	RGS7 (K42T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231606	NM_001364886.1(RGS7):c.411G>C (p.Met137Ile)	RGS7 (M111I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764846	NM_001364886.1(RGS7):c.408A>G (p.Thr136=)	RGS7 (Q40R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2249204	NM_001364886.1(RGS7):c.404G>C (p.Arg135Thr)	RGS7 (R135T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335877	NM_001364886.1(RGS7):c.316A>G (p.Thr106Ala)	LOC126806070, RGS7 (T89A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +264 more	Copy number loss	See cases	GPathogenic
Select item 2350977	NM_001364886.1(RGS7):c.134C>T (p.Thr45Met)	RGS7 (T19M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325758	NM_001364886.1(RGS7):c.125C>T (p.Pro42Leu)	RGS7 (P42L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246311	NM_001364886.1(RGS7):c.88G>A (p.Val30Ile)	RGS7 (V30I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	CHML, CHRM3 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685841	GRCh37/hg19 1q43(chr1:240939595-241740770)x3	FH, KMO +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809288	GRCh37/hg19 1q43(chr1:241094653-242087176)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807581	GRCh37/hg19 1q43(chr1:240996742-241113327)x1	RGS7	Copy number loss	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705941	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	Autism	GUncertain significance
Select item 1527703	GRCh37/hg19 1q43(chr1:241180373-242090901)	CHML, EXO1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527692	GRCh37/hg19 1q43(chr1:238823930-240973278)	CHRM3, FMN2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1457152	NC_000001.10:g.(?_241291947)_(241663758_?)del	FH, RGS7	Deletion	not provided	GPathogenic
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	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 979945	GRCh37/hg19 1q43(chr1:241496526-241885359)x3	RGS7, WDR64 +4 more	Copy number gain	not provided	GLikely benign
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814187	GRCh37/hg19 1q43(chr1:240676485-241289216)x3	GREM2, RGS7	Copy number gain	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687610	GRCh37/hg19 1q43(chr1:241499877-241885359)x3	CHML, FH +4 more	Copy number gain	not provided	GUncertain significance
Select item 686603	GRCh37/hg19 1q43(chr1:241106058-242088336)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	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 635909	Single allele	CHRM3, FMN2 +2 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 635893	Single allele	AKT3, CEP170 +13 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565240	GRCh37/hg19 1q43(chr1:240958055-243698867)x3	AKT3, CEP170 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443027	GRCh37/hg19 1q43(chr1:239569530-241526991)x3	CHRM3, FMN2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	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 442051	GRCh37/hg19 1q43(chr1:237672980-240999398)x1	CHRM3, FMN2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic

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