ClinVar for Gene (Select 2911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373765	NM_001278064.2(GRM1):c.745G>T (p.Ala249Ser)	GRM1 (A249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365352	NM_001278064.2(GRM1):c.2017T>C (p.Ser673Pro)	GRM1 (S673P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363849	NM_001278064.2(GRM1):c.2570G>A (p.Arg857His)	GRM1 (R857H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362622	NM_001278064.2(GRM1):c.1569G>T (p.Val523=)	GRM1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 13	GUncertain significance
Select item 3362552	NM_001278064.2(GRM1):c.1145del (p.Gly382fs)	GRM1 (G382fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 13	GLikely pathogenic
Select item 3361424	NM_001278064.2(GRM1):c.3149C>T (p.Ala1050Val)	GRM1 (A1050V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359673	NM_001278064.2(GRM1):c.3505_3507del (p.Ser1169del)	GRM1 (S1169del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3351785	NM_001278064.2(GRM1):c.2707G>A (p.Val903Met)	GRM1 (G891D +1 more)	Single nucleotide variant (missense variant +1 more)	GRM1-related disorder	GUncertain significance
Select item 3343432	NM_001278064.2(GRM1):c.2539C>T (p.Arg847Cys)	GRM1 (R847C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337255	NM_001278064.2(GRM1):c.2527_2548del (p.Glu843fs)	GRM1 (E843fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3257493	NM_001278064.2(GRM1):c.3200C>T (p.Pro1067Leu)	GRM1 (P1067L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246157	NC_000006.11:g.(?_146350654)_(146351373_?)dup	GRM1	Duplication	not provided	GUncertain significance
Select item 3235759	NM_001278064.2(GRM1):c.1741A>T (p.Ile581Phe)	GRM1 (I581F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102635	NM_001278064.2(GRM1):c.3023C>T (p.Ala1008Val)	GRM1 (A1008V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3023420	NM_001278064.2(GRM1):c.1599T>C (p.Ile533=)	GRM1, LOC126859821	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022146	NM_001278064.2(GRM1):c.1983C>T (p.Arg661=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016278	NM_001278064.2(GRM1):c.3183G>A (p.Gly1061=)	GRM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3003664	NM_001278064.2(GRM1):c.1287T>C (p.His429=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003264	NM_001278064.2(GRM1):c.3480G>T (p.Ser1160=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001151	NM_001278064.2(GRM1):c.446C>G (p.Pro149Arg)	GRM1 (P149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997066	NM_001278064.2(GRM1):c.73A>C (p.Arg25=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991393	NM_001278064.2(GRM1):c.1560G>C (p.Val520=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990211	NM_001278064.2(GRM1):c.81G>C (p.Val27=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988867	NM_001278064.2(GRM1):c.2935C>T (p.His979Tyr)	GRM1 (H979Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984284	NM_001278064.2(GRM1):c.444C>A (p.Pro148=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983886	NM_001278064.2(GRM1):c.2889C>A (p.Ala963=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981794	NM_001278064.2(GRM1):c.3216G>C (p.Pro1072=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981417	NM_001278064.2(GRM1):c.1727C>T (p.Thr576Ile)	GRM1 (T576I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980408	NM_001278064.2(GRM1):c.446C>A (p.Pro149Gln)	GRM1 (P149Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979091	NM_001278064.2(GRM1):c.2931G>A (p.Val977=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973103	NM_001278064.2(GRM1):c.3447G>C (p.Ser1149=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965273	NM_001278064.2(GRM1):c.951-15C>G	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963825	NM_001278064.2(GRM1):c.1322C>A (p.Ala441Asp)	GRM1 (A441D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962646	NM_001278064.2(GRM1):c.1878C>A (p.Ser626=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962625	NM_001278064.2(GRM1):c.2876A>T (p.Glu959Val)	GRM1 (E959V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960218	NM_001278064.2(GRM1):c.951-20C>T	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956446	NM_001278064.2(GRM1):c.6C>G (p.Val2=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919198	NM_001278064.2(GRM1):c.192G>A (p.Glu64=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907476	NM_001278064.2(GRM1):c.1929G>A (p.Val643=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893101	NM_001278064.2(GRM1):c.3175G>C (p.Gly1059Arg)	GRM1 (G1059R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892553	NM_001278064.2(GRM1):c.1306G>A (p.Val436Met)	GRM1 (V436M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891908	NM_001278064.2(GRM1):c.147C>T (p.Ala49=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891545	NM_001278064.2(GRM1):c.144A>G (p.Gly48=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884631	NM_001278064.2(GRM1):c.1026G>T (p.Leu342=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884545	NM_001278064.2(GRM1):c.1715A>G (p.Asn572Ser)	GRM1 (N572S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881833	NM_001278064.2(GRM1):c.391C>A (p.Arg131=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874850	NM_001278064.2(GRM1):c.889C>A (p.Arg297=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873221	NM_001278064.2(GRM1):c.3220C>A (p.His1074Asn)	GRM1 (H1074N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869223	NM_001278064.2(GRM1):c.750G>A (p.Gln250=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855558	NM_001278064.2(GRM1):c.1186+8A>G	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854764	NM_001278064.2(GRM1):c.468T>C (p.Ile156=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846420	NM_001278064.2(GRM1):c.3502G>A (p.Glu1168Lys)	GRM1 (E1168K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2830840	NM_001278064.2(GRM1):c.674C>T (p.Thr225Ile)	GRM1 (T225I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811778	NM_001278064.2(GRM1):c.2999C>A (p.Thr1000Asn)	GRM1 (T1000N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777594	NM_001278064.2(GRM1):c.2949A>C (p.Pro983=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777531	NM_001278064.2(GRM1):c.1538A>G (p.Gln513Arg)	GRM1 (Q513R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776904	NM_001278064.2(GRM1):c.1730-18T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775901	NM_001278064.2(GRM1):c.823C>T (p.Arg275Cys)	GRM1 (R275C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763902	NM_001278064.2(GRM1):c.1776A>G (p.Glu592=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750698	NM_001278064.2(GRM1):c.2070G>A (p.Lys690=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737765	NM_001278064.2(GRM1):c.3468C>A (p.Ala1156=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2737685	NM_001278064.2(GRM1):c.1603-3T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2735368	NM_001278064.2(GRM1):c.3428C>T (p.Pro1143Leu)	GRM1 (P1143L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2729762	NM_001278064.2(GRM1):c.3471G>A (p.Ser1157=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722804	NM_001278064.2(GRM1):c.930C>T (p.Gly310=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714846	NM_001278064.2(GRM1):c.1853G>A (p.Arg618Gln)	GRM1 (R618Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712761	NM_001278064.2(GRM1):c.3162C>G (p.Gly1054=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707380	NM_001278064.2(GRM1):c.3177G>C (p.Gly1059=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703782	NM_001278064.2(GRM1):c.1622T>G (p.Val541Gly)	GRM1 (V541G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700192	NM_001278064.2(GRM1):c.3323A>G (p.Glu1108Gly)	GRM1 (E1108G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2691425	NM_001278064.2(GRM1):c.26T>C (p.Phe9Ser)	GRM1 (F9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684220	NM_001278064.2(GRM1):c.457A>G (p.Lys153Glu)	GRM1 (K153E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684219	NM_001278064.2(GRM1):c.3456C>T (p.Arg1152=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684218	NM_001278064.2(GRM1):c.3341A>T (p.Glu1114Val)	GRM1 (E1114V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684217	NM_001278064.2(GRM1):c.3207G>A (p.Pro1069=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684216	NM_001278064.2(GRM1):c.3202C>T (p.Pro1068Ser)	GRM1 (P1068S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684215	NM_001278064.2(GRM1):c.2661-7293C>T	GRM1 (S894L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684214	NM_001278064.2(GRM1):c.1201G>A (p.Glu401Lys)	GRM1 (E401K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682959	NM_001278064.2(GRM1):c.2818T>A (p.Ser940Thr)	GRM1 (S940T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2673084	NM_001278064.2(GRM1):c.3479C>T (p.Ser1160Leu)	GRM1 (S1160L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663079	NM_001278064.2(GRM1):c.3364G>A (p.Asp1122Asn)	GRM1 (D1122N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656975	NM_001278064.2(GRM1):c.3105G>C (p.Gln1035His)	GRM1 (Q1035H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656974	NM_001278064.2(GRM1):c.3028C>T (p.Pro1010Ser)	GRM1 (P1010S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656973	NM_001278064.2(GRM1):c.2504T>C (p.Met835Thr)	GRM1 (M835T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656972	NM_001278064.2(GRM1):c.1670A>G (p.Gln557Arg)	GRM1 (Q557R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656971	NM_001278064.2(GRM1):c.895C>T (p.Leu299Phe)	GRM1 (L299F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656970	NM_001278064.2(GRM1):c.381G>A (p.Leu127=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656969	NM_001278064.2(GRM1):c.376T>A (p.Ser126Thr)	GRM1 (S126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582193	NM_001278064.2(GRM1):c.3425C>T (p.Ser1142Leu)	GRM1 (S1142L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572460	NM_001278064.2(GRM1):c.1715del (p.Asn572fs)	GRM1 (N572fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 13	GPathogenic
Select item 2504509	NM_001278064.2(GRM1):c.950+8TC[13]	GRM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2446708	NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)	GRM1 (T824R)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GPathogenic
Select item 2446274	NM_001278064.2(GRM1):c.1666G>A (p.Val556Met)	GRM1 (V556M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443498	NM_001278064.2(GRM1):c.224G>A (p.Gly75Asp)	GRM1 (G75D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440626	NM_001278064.2(GRM1):c.1974C>A (p.Tyr658Ter)	GRM1 (Y658*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2440617	NM_001278064.2(GRM1):c.3030del (p.Lys1011fs)	GRM1 (K1011fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2432308	NM_001278064.2(GRM1):c.1720G>A (p.Asp574Asn)	GRM1 (D574N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430437	NM_001278064.2(GRM1):c.3031A>G (p.Lys1011Glu)	GRM1 (K1011E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2422607	NM_001278064.2(GRM1):c.2385T>C (p.Cys795=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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