2911[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 1282795	NM_001278065.2(GRM1):c.-320-186A>G	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253600	NM_001278064.2(GRM1):c.-390T>C	GRM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2956446	NM_001278064.2(GRM1):c.6C>G (p.Val2=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 818224	NM_001278064.2(GRM1):c.26dup (p.Ala11fs)	GRM1 (A11fs)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 13	GPathogenic
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 1807534	NM_001278064.2(GRM1):c.32C>G (p.Ala11Gly)	GRM1 (A11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585964	NM_001278064.2(GRM1):c.33G>C (p.Ala11=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256077	NM_001278064.2(GRM1):c.41T>G (p.Leu14Trp)	GRM1 (L14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447467	NM_001278064.2(GRM1):c.50C>T (p.Ser17Phe)	GRM1 (S17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1717005	NM_001278064.2(GRM1):c.66C>A (p.Ser22Arg)	GRM1 (S22R)	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 1916022	NM_001278064.2(GRM1):c.74G>A (p.Arg25Lys)	GRM1 (R25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990211	NM_001278064.2(GRM1):c.81G>C (p.Val27=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013309	NM_001278064.2(GRM1):c.99G>C (p.Ser33=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995105	NM_001278064.2(GRM1):c.113T>C (p.Val38Ala)	GRM1 (V38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042086	NM_001278064.2(GRM1):c.127G>A (p.Gly43Arg)	GRM1 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891545	NM_001278064.2(GRM1):c.144A>G (p.Gly48=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891908	NM_001278064.2(GRM1):c.147C>T (p.Ala49=)	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 748184	NM_001278064.2(GRM1):c.210C>T (p.Ile70=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313859	NM_001278064.2(GRM1):c.212G>C (p.Arg71Thr)	GRM1 (R71T)	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 724347	NM_001278064.2(GRM1):c.264G>A (p.Lys88=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2363786	NM_001278064.2(GRM1):c.272C>T (p.Ala91Val)	GRM1 (A91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748106	NM_001278064.2(GRM1):c.285C>T (p.Leu95=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770559	NM_001278064.2(GRM1):c.321C>T (p.Asp107=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2179353	NM_001278064.2(GRM1):c.374A>G (p.Asp125Gly)	GRM1 (D125G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2656970	NM_001278064.2(GRM1):c.381G>A (p.Leu127=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881833	NM_001278064.2(GRM1):c.391C>A (p.Arg131=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962716	NM_001278064.2(GRM1):c.403G>T (p.Asp135Tyr)	GRM1 (D135Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729154	NM_001278064.2(GRM1):c.408G>A (p.Gly136=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1901629	NM_001278064.2(GRM1):c.409A>G (p.Ile137Val)	GRM1 (I137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447466	NM_001278064.2(GRM1):c.428A>T (p.Asp143Val)	GRM1 (D143V)	Single nucleotide variant (missense variant)	not specified	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 585965	NM_001278064.2(GRM1):c.444C>G (p.Pro148=)	GRM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2145635	NM_001278064.2(GRM1):c.445C>G (p.Pro149Ala)	GRM1 (P149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878307	NM_001278064.2(GRM1):c.445C>A (p.Pro149Thr)	GRM1 (P149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2980408	NM_001278064.2(GRM1):c.446C>A (p.Pro149Gln)	GRM1 (P149Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412557	NM_001278064.2(GRM1):c.446C>T (p.Pro149Leu)	GRM1 (P149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1921061	NM_001278064.2(GRM1):c.465C>T (p.Pro155=)	GRM1	Single nucleotide variant (synonymous 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 739609	NM_001278064.2(GRM1):c.471G>C (p.Ala157=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740423	NM_001278064.2(GRM1):c.480C>T (p.Ile160=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155833	NM_001278064.2(GRM1):c.549C>T (p.Ile183=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717024	NM_001278064.2(GRM1):c.555T>C (p.Tyr185=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789751	NM_001278064.2(GRM1):c.624C>T (p.Asp208=)	GRM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2156579	NM_001278064.2(GRM1):c.669T>C (p.Asn223=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 731777	NM_001278064.2(GRM1):c.681C>A (p.Val227=)	GRM1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1897798	NM_001278064.2(GRM1):c.700+11T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989416	NM_001278064.2(GRM1):c.700+15T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707307	NM_001278064.2(GRM1):c.701-32G>A	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585966	NM_001278064.2(GRM1):c.722T>C (p.Met241Thr)	GRM1 (M241T)	Single nucleotide variant (missense variant)	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 447468	NM_001278064.2(GRM1):c.774T>G (p.Ser258=)	GRM1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 438856	NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)	GRM1 (Y262C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 44	GPathogenic
Select item 746805	NM_001278064.2(GRM1):c.813C>T (p.Asp271=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 804887	NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)	GRM1 (K276T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447469	NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)	GRM1 (L277I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 44 +2 more	GUncertain significance
Select item 1698874	NM_001278064.2(GRM1):c.851C>T (p.Ala284Val)	GRM1 (A284V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 44	GUncertain significance
Select item 786100	NM_001278064.2(GRM1):c.854G>A (p.Arg285Lys)	GRM1 (R285K)	Single nucleotide variant (missense variant)	GRM1-related condition +1 more	GLikely benign
Select item 1807535	NM_001278064.2(GRM1):c.885A>C (p.Thr295=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2874850	NM_001278064.2(GRM1):c.889C>A (p.Arg297=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626248	NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)	GRM1 (R297*)	Single nucleotide variant (nonsense)	Global developmental delay +1 more	GPathogenic
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 2119476	NM_001278064.2(GRM1):c.901_909del (p.Ser301_Met303del)	GRM1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 781759	NM_001278064.2(GRM1):c.922G>A (p.Val308Ile)	GRM1 (V308I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 218587	NM_001278064.2(GRM1):c.925G>T (p.Val309Leu)	GRM1 (V309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722804	NM_001278064.2(GRM1):c.930C>T (p.Gly310=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249498	NM_001278064.2(GRM1):c.931G>A (p.Glu311Lys)	GRM1 (E311K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059560	NM_001278064.2(GRM1):c.950+8TC[22]	GRM1	Microsatellite (intron variant)	Autosomal recessive spinocerebellar ataxia 13 +1 more	GConflicting classifications of pathogenicity
Select item 781760	NM_001278064.2(GRM1):c.950+8TC[21]	GRM1	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 770930	NM_001278064.2(GRM1):c.950+8TC[20]	GRM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2504509	NM_001278064.2(GRM1):c.950+8TC[13]	GRM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1268720	NM_001278064.2(GRM1):c.950+8TC[17]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1264656	NM_001278064.2(GRM1):c.950+8TC[12]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1236015	NM_001278064.2(GRM1):c.950+8TC[16]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1174890	NM_001278064.2(GRM1):c.950+8TC[14]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1174733	NM_001278064.2(GRM1):c.950+8TC[18]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 785196	NM_001278064.2(GRM1):c.950+8TC[11]	GRM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 770560	NM_001278064.2(GRM1):c.950+8TC[15]	GRM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1247824	NM_001278064.2(GRM1):c.950+36T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276825	NM_001278064.2(GRM1):c.950+38T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261851	NM_001278064.2(GRM1):c.950+40T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295254	NM_001278064.2(GRM1):c.950+42T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248938	NM_001278064.2(GRM1):c.950+291T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281187	NM_001278064.2(GRM1):c.950+319T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960218	NM_001278064.2(GRM1):c.951-20C>T	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915267	NM_001278064.2(GRM1):c.951-19C>A	GRM1	Single nucleotide variant (intron variant)	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 2192438	NM_001278064.2(GRM1):c.951-8T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560384	NM_001278064.2(GRM1):c.951-6T>A	GRM1	Single nucleotide variant (intron variant)	Cerebellar ataxia	GUncertain significance

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