Related gene-specific medical variations for Gene (Select 2911) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3246157	NC_000006.11:g.(?_146350654)_(146351373_?)dup	GRM1	Duplication	not provided	GUncertain significance
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 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 2446708	NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)	GRM1 (T824R)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GPathogenic
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 1948586	NM_001278064.2(GRM1):c.1602+19C>A	LOC126859821, GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807536	NM_001278064.2(GRM1):c.3039G>T (p.Leu1013Phe)	GRM1 (L1013F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807533	NM_001278064.2(GRM1):c.3181G>C (p.Gly1061Arg)	GRM1 (G1061R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807532	NM_001278064.2(GRM1):c.2252T>C (p.Leu751Pro)	GRM1 (L751P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807531	NM_001278064.2(GRM1):c.3524C>T (p.Pro1175Leu)	GRM1 (P1175L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807529	NM_001278064.2(GRM1):c.3245T>C (p.Leu1082Pro)	GRM1 (L1082P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807528	NM_001278064.2(GRM1):c.2000C>T (p.Ser667Phe)	GRM1 (S667F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807527	NM_001278064.2(GRM1):c.1156G>C (p.Glu386Gln)	GRM1 (E386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807526	NM_001278064.2(GRM1):c.3366C>A (p.Asp1122Glu)	GRM1 (D1122E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341172	GRCh37/hg19 6q24.3(chr6:146556978-146625034)x1	GRM1	Copy number loss	not provided	GUncertain significance
Select item 1339870	NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)	GRM1, LOC126859821	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 44 +1 more	Gnot provided
Select item 1321609	NM_001278064.2(GRM1):c.1602+52G>A	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298316	NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu)	GRM1 (P1079L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 44	GUncertain significance
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 1256076	NM_001278064.2(GRM1):c.2944G>A (p.Val982Met)	GRM1 (V982M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256074	NM_001278064.2(GRM1):c.1524T>G (p.Asp508Glu)	GRM1 (D508E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245799	NM_001278064.2(GRM1):c.1602+127dup	GRM1, LOC126859821	Duplication (intron variant)	not provided	GBenign
Select item 1226574	NM_001278064.2(GRM1):c.1602+99T>C	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226306	NM_001278064.2(GRM1):c.1602+122A>G	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1013310	NM_001278064.2(GRM1):c.1592G>A (p.Gly531Asp)	GRM1, LOC126859821 (G531D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995119	NM_001278064.2(GRM1):c.3408A>G (p.Lys1136=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 995118	NM_001278064.2(GRM1):c.3339C>T (p.His1113=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 995117	NM_001278064.2(GRM1):c.3212C>G (p.Pro1071Arg)	GRM1 (P1071R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 995116	NM_001278064.2(GRM1):c.3000C>T (p.Thr1000=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 995114	NM_001278064.2(GRM1):c.2661-7270G>A	GRM1 (A902T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 995110	NM_001278064.2(GRM1):c.2252T>A (p.Leu751Gln)	GRM1 (L751Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995108	NM_001278064.2(GRM1):c.2087G>A (p.Arg696Gln)	GRM1 (R696Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 994893	NM_001278064.2(GRM1):c.1137C>T (p.Arg379=)	GRM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 560384	NM_001278064.2(GRM1):c.951-6T>A	GRM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 478919	NM_001278064.2(GRM1):c.2660+2T>C	GRM1	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478918	NM_001278064.2(GRM1):c.2652_2654del (p.Asn885del)	GRM1 (N885del)	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 447458	NM_001278064.2(GRM1):c.1602+9C>G	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 445998	NM_001278064.2(GRM1):c.3040C>T (p.Pro1014Ser)	GRM1 (P1014S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 51