ClinVar for Gene (Select 9628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153925	NM_001204424.2(RGS6):c.988G>A (p.Val330Ile)	RGS6 (V295I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153924	NM_001204424.2(RGS6):c.665G>A (p.Arg222His)	RGS6 (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153923	NM_001204424.2(RGS6):c.47C>T (p.Pro16Leu)	RGS6 (P16L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153922	NM_001204424.2(RGS6):c.265G>A (p.Ala89Thr)	RGS6 (A89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153921	NM_001204424.2(RGS6):c.173G>A (p.Ser58Asn)	RGS6 (S23N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153920	NM_001204424.2(RGS6):c.1451C>T (p.Thr484Met)	RGS6 (R605W +6 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3153918	NM_001204424.2(RGS6):c.1123C>A (p.Gln375Lys)	RGS6 (Q296K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3022969	NM_001204424.2(RGS6):c.854+11C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020547	NM_001204424.2(RGS6):c.85-17_85-13del	RGS6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3017072	NM_001204424.2(RGS6):c.693+4C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986940	NM_001204424.2(RGS6):c.235+6T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957447	NM_001204424.2(RGS6):c.697G>A (p.Val233Met)	RGS6 (V230M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2914511	NM_001204424.2(RGS6):c.1431G>A (p.Ser477=)	RGS6 (A430T +6 more)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2896312	NM_001204424.2(RGS6):c.185-7G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809232	NM_001204424.2(RGS6):c.460-5A>C	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2609408	NM_001204424.2(RGS6):c.1414C>T (p.Arg472Cys)	RGS6 (R435C +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2530797	NM_001204424.2(RGS6):c.1141G>T (p.Ala381Ser)	RGS6 (A311S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530588	NM_001204424.2(RGS6):c.224T>C (p.Ile75Thr)	RGS6 (I75T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492198	NM_001204424.2(RGS6):c.885A>C (p.Glu295Asp)	RGS6 (E295D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491979	NM_001204424.2(RGS6):c.1055G>A (p.Arg352Gln)	RGS6 (R315Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473901	NM_001204424.2(RGS6):c.94A>C (p.Ile32Leu)	RGS6 (I32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467396	NM_001204424.2(RGS6):c.172A>G (p.Ser58Gly)	RGS6 (S58G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459252	NM_001204424.2(RGS6):c.581G>C (p.Ser194Thr)	RGS6 (S159T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458578	NM_001204424.2(RGS6):c.1040G>A (p.Arg347Gln)	RGS6 (R312Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2404350	NM_001204424.2(RGS6):c.837G>A (p.Met279Ile)	RGS6 (M244I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379166	NM_001204424.2(RGS6):c.932G>A (p.Ser311Asn)	RGS6 (S308N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374048	NM_001204424.2(RGS6):c.445G>A (p.Ala149Thr)	RGS6 (A149T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2367752	NM_001204424.2(RGS6):c.706G>A (p.Val236Met)	RGS6 (V201M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365608	NM_001204424.2(RGS6):c.934G>A (p.Asp312Asn)	RGS6 (D309N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347887	NM_001204424.2(RGS6):c.265G>T (p.Ala89Ser)	RGS6 (A54S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321664	NM_001204424.2(RGS6):c.134C>T (p.Pro45Leu)	RGS6 (P45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307193	NM_001204424.2(RGS6):c.1250G>A (p.Gly417Glu)	RGS6 (G347E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236286	NM_001204424.2(RGS6):c.532G>C (p.Val178Leu)	RGS6 (V178L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209209	NM_001204424.2(RGS6):c.73G>A (p.Val25Ile)	RGS6 (V25I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2074676	NM_001204424.2(RGS6):c.1136A>G (p.Asp379Gly)	RGS6 (D342G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2056116	NM_001204424.2(RGS6):c.118A>G (p.Lys40Glu)	RGS6 (K5E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1987993	NM_001204424.2(RGS6):c.1368+17C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933841	NM_001204424.2(RGS6):c.870G>A (p.Thr290=)	RGS6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1909596	NM_001204424.2(RGS6):c.250T>C (p.Leu84=)	RGS6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1707294	NM_001204424.2(RGS6):c.536+147C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706811	NM_001204424.2(RGS6):c.394+108G>C	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691596	NM_001204424.2(RGS6):c.1091+69TC[8]	RGS6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1641368	NM_001204424.2(RGS6):c.966-10C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591015	NM_001204424.2(RGS6):c.1281G>A (p.Glu427=)	RGS6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577033	NM_001204424.2(RGS6):c.771A>G (p.Thr257=)	LOC130056028, RGS6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1339989	GRCh37/hg19 14q24.2(chr14:72452471-72759904)x3	RGS6	Copy number gain	not provided	GUncertain significance
Select item 1331154	NM_001204424.2(RGS6):c.1368+20G>C	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1329601	NM_001204424.2(RGS6):c.792+203C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325932	NM_001204424.2(RGS6):c.343-96G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318175	NM_001204424.2(RGS6):c.-20-279C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317922	NM_001204424.2(RGS6):c.618+261T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317911	NM_001204424.2(RGS6):c.*193G>T	RGS6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1317801	NM_001204424.2(RGS6):c.965+185G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317791	NM_001204424.2(RGS6):c.536+17G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1317738	NM_001204424.2(RGS6):c.1422+77T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317686	NM_001204424.2(RGS6):c.236-264C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317637	NM_001204424.2(RGS6):c.966-63G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317574	NM_001204424.2(RGS6):c.85-188G>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317456	NM_001204424.2(RGS6):c.395-207TGGA[14]	RGS6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1317275	NM_001204424.2(RGS6):c.184+66C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317206	NM_001204424.2(RGS6):c.1368+171C>G	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317205	NM_001204424.2(RGS6):c.1369-274G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317085	NM_001204424.2(RGS6):c.1422+77del	RGS6	Deletion (intron variant)	not provided	GLikely benign
Select item 1317084	NM_001204424.2(RGS6):c.*113G>A	RGS6	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1317017	NM_001204424.2(RGS6):c.793-283C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316908	NM_001204424.2(RGS6):c.*469C>G	RGS6 (T627R)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1316876	NM_001204424.2(RGS6):c.236-214T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316742	NM_001204424.2(RGS6):c.1423-128G>T	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316602	NM_001204424.2(RGS6):c.236-290A>G	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316464	NM_001204424.2(RGS6):c.460-254T>G	RGS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294533	NM_001204424.2(RGS6):c.618+74C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291958	NM_001204424.2(RGS6):c.*532T>C	RGS6 (L648P)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1290528	NM_001204424.2(RGS6):c.966-232G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289871	NM_001204424.2(RGS6):c.855-262T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288574	NM_001204424.2(RGS6):c.1368+197G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287731	NM_001204424.2(RGS6):c.342+86G>C	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287586	NM_001204424.2(RGS6):c.395-207TGGA[13]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1286195	NM_001204424.2(RGS6):c.536+163T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283136	NM_001204424.2(RGS6):c.1091+68_1091+69del	RGS6	Deletion (intron variant)	not provided	GBenign
Select item 1282241	NM_001204424.2(RGS6):c.619-127_619-126insA	RGS6	Insertion (intron variant)	not provided	GBenign
Select item 1281038	NM_001204424.2(RGS6):c.395-164A>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278645	NM_001204424.2(RGS6):c.1278+151C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278178	NM_001204424.2(RGS6):c.459+33G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276978	NM_001204424.2(RGS6):c.694-274T>C	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273550	NM_001204424.2(RGS6):c.1092-180A>G	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273015	NM_001204424.2(RGS6):c.395-160A>G	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272948	NM_001204424.2(RGS6):c.1091+212G>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265155	NM_001204424.2(RGS6):c.395-135TGGA[10]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1262344	NM_001204424.2(RGS6):c.395-156T>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262192	NM_001204424.2(RGS6):c.395-135TGGA[11]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1261478	NM_001204424.2(RGS6):c.343-254T>A	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258962	NM_001204424.2(RGS6):c.*3G>A	RGS6 (V445I +5 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 1250892	NM_001204424.2(RGS6):c.395-207TGGA[11]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1250540	NM_001204424.2(RGS6):c.395-155TGGGTGGA[2]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1247133	NM_001204424.2(RGS6):c.1091+167C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245655	NM_001204424.2(RGS6):c.395-135TGGA[12]	RGS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1244827	NM_001204424.2(RGS6):c.-20-34C>T	RGS6	Single nucleotide variant (intron variant)	not provided	GBenign

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