RGS9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 650695	NC_000017.10:g.(?_62987152)_(63554748_?)dup	LOC129390912, LOC129390913 +16 more	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 2070865	NM_003835.4(RGS9):c.11G>T (p.Arg4Leu)	LOC130061461, RGS9 (R4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539417	NM_003835.4(RGS9):c.15C>T (p.His5=)	LOC130061461, RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917832	NM_003835.4(RGS9):c.16C>A (p.Gln6Lys)	LOC130061461, RGS9 (Q6K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1062407	NM_003835.4(RGS9):c.19G>C (p.Gly7Arg)	LOC130061461, RGS9 (G7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111381	NM_003835.4(RGS9):c.21C>G (p.Gly7=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839492	NM_003835.4(RGS9):c.23A>G (p.Gln8Arg)	RGS9 (Q8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359815	NM_003835.4(RGS9):c.35C>G (p.Pro12Arg)	RGS9 (P12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930078	NM_003835.4(RGS9):c.37A>G (p.Arg13Gly)	RGS9 (R13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811118	NM_003835.4(RGS9):c.39G>A (p.Arg13=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969280	NM_003835.4(RGS9):c.46T>C (p.Phe16Leu)	RGS9 (F16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936024	NM_003835.4(RGS9):c.57+6C>T	RGS9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1088309	NM_003835.4(RGS9):c.57+10G>A	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655308	NM_003835.4(RGS9):c.57+14C>T	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1107812	NM_003835.4(RGS9):c.58-12T>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789740	NM_003835.4(RGS9):c.58-6T>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1009429	NM_003835.4(RGS9):c.58-1G>T	RGS9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1055229	NM_003835.4(RGS9):c.65C>T (p.Ala22Val)	RGS9 (A22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775332	NM_003835.4(RGS9):c.66G>A (p.Ala22=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286373	NM_003835.4(RGS9):c.69C>T (p.Leu23=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1475188	NM_003835.4(RGS9):c.70G>A (p.Val24Met)	RGS9 (V24M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108111	NM_003835.4(RGS9):c.78C>T (p.Asp26=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 858339	NM_003835.4(RGS9):c.79A>G (p.Met27Val)	RGS9 (M27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962370	NM_003835.4(RGS9):c.82C>T (p.Gln28Ter)	RGS9 (Q28*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1517845	NM_003835.4(RGS9):c.86A>T (p.Asn29Ile)	RGS9 (N29I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939591	NM_003835.4(RGS9):c.87C>G (p.Asn29Lys)	RGS9 (N29K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111369	NM_003835.4(RGS9):c.96A>C (p.Thr32=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787412	NM_003835.4(RGS9):c.99G>A (p.Gly33=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659613	NM_003835.4(RGS9):c.102C>T (p.Val34=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959975	NM_003835.4(RGS9):c.103C>T (p.Arg35Ter)	RGS9 (R35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 953845	NM_003835.4(RGS9):c.104G>A (p.Arg35Gln)	RGS9 (R35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923421	NM_003835.4(RGS9):c.125T>A (p.Leu42Gln)	RGS9 (L42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644500	NM_003835.4(RGS9):c.126G>A (p.Leu42=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879685	NM_003835.4(RGS9):c.132C>T (p.Thr44=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103817	NM_003835.4(RGS9):c.132C>G (p.Thr44=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170513	NM_003835.4(RGS9):c.135C>T (p.Ser45=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1383368	NM_003835.4(RGS9):c.136G>A (p.Val46Ile)	RGS9 (V46I)	Single nucleotide variant (missense variant)	Bradyopsia +1 more	GUncertain significance
Select item 1025563	NM_003835.4(RGS9):c.140C>T (p.Pro47Leu)	RGS9 (P47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399535	NM_003835.4(RGS9):c.143A>C (p.His48Pro)	RGS9 (H48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059883	NM_003835.4(RGS9):c.145_154+18del	RGS9	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 998882	NM_003835.4(RGS9):c.154+6G>A	RGS9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1997078	NM_003835.4(RGS9):c.155-1G>T	RGS9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1053828	NM_003835.4(RGS9):c.157A>C (p.Ser53Arg)	RGS9 (S53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025116	NM_003835.4(RGS9):c.157A>G (p.Ser53Gly)	RGS9 (S53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1087616	NM_003835.4(RGS9):c.171A>G (p.Gln57=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779311	NM_003835.4(RGS9):c.177C>T (p.Ile59=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1039874	NM_003835.4(RGS9):c.177C>G (p.Ile59Met)	RGS9 (I59M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724415	NM_003835.4(RGS9):c.178G>A (p.Val60Ile)	RGS9 (V60I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1658926	NM_003835.4(RGS9):c.180C>A (p.Val60=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977772	NM_003835.4(RGS9):c.184C>T (p.Arg62Trp)	RGS9 (R62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125009	NM_003835.4(RGS9):c.185G>T (p.Arg62Leu)	RGS9 (R62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862935	NM_003835.4(RGS9):c.204G>T (p.Leu68=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104920	NM_003835.4(RGS9):c.205+2del	RGS9	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1106178	NM_003835.4(RGS9):c.205+8C>T	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555714	NM_003835.4(RGS9):c.205+11A>T	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980296	NM_003835.4(RGS9):c.205+12T>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939993	NM_003835.4(RGS9):c.206-11G>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1010821	NM_003835.4(RGS9):c.206-3C>A	RGS9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2097540	NM_003835.4(RGS9):c.206-1G>A	RGS9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 971621	NM_003835.4(RGS9):c.222C>T (p.Gly74=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 998511	NM_003835.4(RGS9):c.232G>A (p.Val78Ile)	RGS9 (V78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1425597	NM_003835.4(RGS9):c.233T>C (p.Val78Ala)	RGS9 (V78A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096601	NM_003835.4(RGS9):c.237G>C (p.Arg79Ser)	RGS9 (R79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487790	NM_003835.4(RGS9):c.239del (p.Tyr80fs)	RGS9 (Y80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1108806	NM_003835.4(RGS9):c.255C>A (p.Pro85=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777212	NM_003835.4(RGS9):c.255C>G (p.Pro85=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 971443	NM_003835.4(RGS9):c.262G>T (p.Asp88Tyr)	RGS9 (D88Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1016126	NM_003835.4(RGS9):c.272A>G (p.Asn91Ser)	RGS9 (N91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182194	NM_003835.4(RGS9):c.274C>G (p.Leu92Val)	RGS9 (L92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1027098	NM_003835.4(RGS9):c.286C>G (p.Pro96Ala)	RGS9 (P96A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536173	NM_003835.4(RGS9):c.289G>C (p.Asp97His)	RGS9 (D97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2000747	NM_003835.4(RGS9):c.290A>T (p.Asp97Val)	RGS9 (D97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961853	NM_003835.4(RGS9):c.296G>A (p.Ser99Asn)	RGS9 (S99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1083376	NM_003835.4(RGS9):c.297C>T (p.Ser99=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498375	NM_003835.4(RGS9):c.298C>T (p.Leu100Phe)	RGS9 (L100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165305	NM_003835.4(RGS9):c.303C>T (p.Tyr101=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1393572	NM_003835.4(RGS9):c.305G>T (p.Arg102Ile)	RGS9 (R102I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490395	NM_003835.4(RGS9):c.310C>T (p.Gln104Ter)	RGS9 (Q104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1166452	NM_003835.4(RGS9):c.312+10G>A	RGS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1092622	NM_003835.4(RGS9):c.312+15T>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920713	NM_003835.4(RGS9):c.312+20C>T	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867673	NM_003835.4(RGS9):c.313-17C>G	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582440	NM_003835.4(RGS9):c.313-11T>A	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747926	NM_003835.4(RGS9):c.313-6T>C	RGS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 444412	NM_003835.4(RGS9):c.313A>G (p.Thr105Ala)	RGS9 (T105A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197756	NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)	RGS9 (T105G)	Indel (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 708241	NM_003835.4(RGS9):c.314C>G (p.Thr105Arg)	RGS9 (T105R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1129155	NM_003835.4(RGS9):c.317C>A (p.Pro106Gln)	RGS9 (P106Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1034764	NM_003835.4(RGS9):c.317C>T (p.Pro106Leu)	RGS9 (P106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623623	NM_003835.4(RGS9):c.318G>A (p.Pro106=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464938	NM_003835.4(RGS9):c.327G>A (p.Trp109Ter)	RGS9 (W109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2880692	NM_003835.4(RGS9):c.330C>T (p.Pro110=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2518615	NM_003835.4(RGS9):c.332C>T (p.Thr111Ile)	RGS9 (T111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2970567	NM_003835.4(RGS9):c.333C>G (p.Thr111=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596734	NM_003835.4(RGS9):c.334C>G (p.Gln112Glu)	RGS9 (Q112E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032028	NM_003835.4(RGS9):c.342G>A (p.Trp114Ter)	RGS9 (W114*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1660937	NM_003835.4(RGS9):c.357C>T (p.Thr119=)	RGS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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