RGS22[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 148247	GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1	LOC130000846, LOC130000847 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 716535	NM_015668.5(RGS22):c.3793T>C (p.Ter1265Arg)	RGS22	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 776366	NM_015668.5(RGS22):c.3651A>G (p.Leu1217=)	RGS22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3153883	NM_015668.5(RGS22):c.3628T>C (p.Tyr1210His)	RGS22 (Y1029H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153881	NM_015668.5(RGS22):c.3611G>A (p.Arg1204Gln)	RGS22 (R1023Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404542	NM_015668.5(RGS22):c.3523G>A (p.Gly1175Arg)	RGS22 (G994R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278151	NM_015668.5(RGS22):c.3509A>T (p.Lys1170Ile)	RGS22 (K1158I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399123	NM_015668.5(RGS22):c.3505G>A (p.Glu1169Lys)	RGS22 (E1169K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240333	NM_015668.5(RGS22):c.3485A>T (p.Lys1162Ile)	RGS22 (K1162I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353630	NM_015668.5(RGS22):c.3323G>A (p.Arg1108Gln)	RGS22 (R1096Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467450	NM_015668.5(RGS22):c.3236T>C (p.Ile1079Thr)	RGS22 (I898T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358781	NM_015668.5(RGS22):c.3151C>G (p.Leu1051Val)	RGS22 (L870V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204068	NM_015668.5(RGS22):c.2935C>T (p.Arg979Cys)	RGS22 (R967C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605067	NM_015668.5(RGS22):c.2779C>G (p.Gln927Glu)	RGS22 (Q746E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153878	NM_015668.5(RGS22):c.2668A>G (p.Arg890Gly)	RGS22 (R878G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153877	NM_015668.5(RGS22):c.2640G>A (p.Met880Ile)	RGS22 (M868I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484782	NM_015668.5(RGS22):c.2555A>G (p.Lys852Arg)	RGS22 (K671R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356863	NM_015668.5(RGS22):c.2489C>T (p.Ser830Leu)	RGS22 (S818L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601310	NM_015668.5(RGS22):c.2471T>C (p.Ile824Thr)	RGS22 (I812T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615474	NM_015668.5(RGS22):c.2444A>G (p.Lys815Arg)	RGS22 (K815R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346058	NM_015668.5(RGS22):c.2288A>G (p.Glu763Gly)	RGS22 (E751G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382423	NM_015668.5(RGS22):c.2210T>C (p.Ile737Thr)	RGS22 (I556T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280656	NM_015668.5(RGS22):c.2185G>A (p.Val729Ile)	RGS22 (V717I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 57124	GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3	ANKRD46, FBXO43 +77 more	Copy number gain	See cases	GPathogenic
Select item 2383780	NM_015668.5(RGS22):c.2154C>G (p.Cys718Trp)	RGS22 (C718W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153875	NM_015668.5(RGS22):c.2126A>G (p.Gln709Arg)	RGS22 (Q697R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276640	NM_015668.5(RGS22):c.2105C>T (p.Ala702Val)	RGS22 (A521V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402375	NM_015668.5(RGS22):c.1894A>C (p.Lys632Gln)	RGS22 (K451Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153874	NM_015668.5(RGS22):c.1834A>G (p.Met612Val)	RGS22 (M600V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283961	NM_015668.5(RGS22):c.1805A>T (p.Asp602Val)	RGS22 (D421V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153873	NM_015668.5(RGS22):c.1775G>A (p.Arg592Gln)	RGS22 (R580Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658710	NM_015668.5(RGS22):c.1728C>A (p.Pro576=)	RGS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624158	NM_015668.5(RGS22):c.1679C>G (p.Pro560Arg)	RGS22 (P379R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278957	NM_015668.5(RGS22):c.1669C>T (p.Pro557Ser)	RGS22 (P376S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620299	NM_015668.5(RGS22):c.1618C>A (p.Pro540Thr)	RGS22 (P540T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153872	NM_015668.5(RGS22):c.1589G>A (p.Arg530His)	RGS22 (R349H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153871	NM_015668.5(RGS22):c.1585C>A (p.Leu529Ile)	RGS22 (L348I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153870	NM_015668.5(RGS22):c.1274C>G (p.Thr425Arg)	RGS22 (T425R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524803	NM_015668.5(RGS22):c.1253T>G (p.Phe418Cys)	RGS22 (F237C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611651	NM_015668.5(RGS22):c.1241A>G (p.Glu414Gly)	RGS22 (E402G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461926	NM_015668.5(RGS22):c.1080T>G (p.Ile360Met)	RGS22 (I179M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153868	NM_015668.5(RGS22):c.1075T>C (p.Ser359Pro)	RGS22 (S359P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329603	NM_015668.5(RGS22):c.911G>A (p.Ser304Asn)	RGS22 (S292N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614698	NM_015668.5(RGS22):c.848A>G (p.Gln283Arg)	RGS22 (Q102R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409327	NM_015668.5(RGS22):c.812A>G (p.Glu271Gly)	RGS22 (E271G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709879	NM_015668.5(RGS22):c.744T>C (p.Asp248=)	RGS22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208916	NM_015668.5(RGS22):c.726G>T (p.Glu242Asp)	RGS22 (E242D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153887	NM_015668.5(RGS22):c.678T>G (p.Cys226Trp)	RGS22 (C214W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153886	NM_015668.5(RGS22):c.664T>G (p.Ser222Ala)	RGS22 (S210A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481224	NM_015668.5(RGS22):c.601T>C (p.Tyr201His)	RGS22 (Y201H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588646	NM_015668.5(RGS22):c.583T>A (p.Ser195Thr)	RGS22 (S195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622427	NM_015668.5(RGS22):c.539C>T (p.Ala180Val)	RGS22 (A180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458101	NM_015668.5(RGS22):c.508G>A (p.Val170Met)	RGS22 (V170M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153884	NM_015668.5(RGS22):c.466G>A (p.Gly156Ser)	RGS22 (G156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153882	NM_015668.5(RGS22):c.361A>G (p.Ile121Val)	RGS22 (I121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153880	NM_015668.5(RGS22):c.359G>A (p.Gly120Asp)	RGS22 (G120D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741405	NM_015668.5(RGS22):c.300C>T (p.Pro100=)	RGS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532253	NM_015668.5(RGS22):c.233G>A (p.Arg78Gln)	RGS22 (R78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776367	NM_015668.5(RGS22):c.63T>C (p.Ser21=)	RGS22	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2373007	NM_015668.5(RGS22):c.43G>A (p.Glu15Lys)	RGS22 (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592145	NM_015668.5(RGS22):c.22G>T (p.Ala8Ser)	RGS22 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063043	GRCh37/hg19 8q22.2(chr8:100709537-101192245)x3	COX6C, FBXO43 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685318	GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1	ANKRD46, COX6C +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1809446	GRCh37/hg19 8q22.2(chr8:100791384-101278033)x3	COX6C, FBXO43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, FZD6 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 979846	GRCh37/hg19 8q22.2(chr8:101017828-101094066)x1	RGS22	Copy number loss	not provided	GUncertain significance
Select item 815149	GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3	POLR2K, RNF19A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563534	GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1	COX6C, UBR5 +17 more	Copy number loss	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic

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