"GeneDx"[submitter] AND "GRM1"[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 789751	NM_001278064.2(GRM1):c.624C>T (p.Asp208=)	GRM1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1707307	NM_001278064.2(GRM1):c.701-32G>A	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1251353	NM_001278064.2(GRM1):c.1433+104G>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293495	NM_001278064.2(GRM1):c.1434-30T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313803	NM_001278064.2(GRM1):c.1453C>A (p.Gln485Lys)	GRM1 (Q485K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321609	NM_001278064.2(GRM1):c.1602+52G>A	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1245799	NM_001278064.2(GRM1):c.1602+127dup	GRM1, LOC126859821	Duplication (intron variant)	not provided	GBenign
Select item 1325968	NM_001278064.2(GRM1):c.1603-33A>G	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985870	NM_001278064.2(GRM1):c.1603G>A (p.Val535Ile)	GRM1 (V535I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 804879	NM_001278064.2(GRM1):c.1689A>C (p.Lys563Asn)	GRM1 (K563N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1526323	NM_001278064.2(GRM1):c.1730-191T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273087	NM_001278064.2(GRM1):c.1730-73G>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229079	NM_001278064.2(GRM1):c.1730-35T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233211	NM_001278064.2(GRM1):c.1730-22C>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704082	NM_001278064.2(GRM1):c.1730G>T (p.Gly577Val)	GRM1 (G577V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699817	NM_001278064.2(GRM1):c.2006C>T (p.Ala669Val)	GRM1 (A669V)	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 995109	NM_001278064.2(GRM1):c.2185C>A (p.Pro729Thr)	GRM1 (P729T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1704743	NM_001278064.2(GRM1):c.2215A>G (p.Ile739Val)	GRM1 (I739V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810501	NM_001278064.2(GRM1):c.2228A>G (p.Tyr743Cys)	GRM1 (Y743C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723632	NM_001278064.2(GRM1):c.2509A>C (p.Ile837Leu)	GRM1 (I837L)	Single nucleotide variant (missense variant)	not provided	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 3363849	NM_001278064.2(GRM1):c.2570G>A (p.Arg857His)	GRM1 (R857H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722483	NM_001278064.2(GRM1):c.2581G>A (p.Gly861Ser)	GRM1 (G861S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1313067	NM_001278064.2(GRM1):c.2641G>A (p.Ala881Thr)	GRM1 (A881T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995113	NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)	GRM1 (G884E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1321604	NM_001278064.2(GRM1):c.2660+52T>C	GRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293405	NM_001278064.2(GRM1):c.2660+53TC[10]	GRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1243748	NM_001278064.2(GRM1):c.2660+131C>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296223	NM_001278064.2(GRM1):c.2661-7499G>T	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295734	NM_001278064.2(GRM1):c.2661-44G>A	GRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712789	NM_001278064.2(GRM1):c.2669G>C (p.Gly890Ala)	GRM1 (G890A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 995115	NM_001278064.2(GRM1):c.2785G>A (p.Val929Ile)	GRM1 (V929I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 129209	NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign
Select item 129210	NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)	GRM1 (S993P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign
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 2136058	NM_001278064.2(GRM1):c.3095A>T (p.Asp1032Val)	GRM1 (D1032V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 789752	NM_001278064.2(GRM1):c.3107G>T (p.Gly1036Val)	GRM1 (G1036V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1307974	NM_001278064.2(GRM1):c.3121_3124dup (p.Ser1042fs)	GRM1 (S1042fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 129211	NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign
Select item 789291	NM_001278064.2(GRM1):c.3213T>C (p.Pro1071=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 129212	NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign
Select item 773203	NM_001278064.2(GRM1):c.3219G>A (p.Gln1073=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 768112	NM_001278064.2(GRM1):c.3357G>C (p.Thr1119=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1307916	NM_001278064.2(GRM1):c.3479C>G (p.Ser1160Trp)	GRM1 (S1160W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129213	NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)	GRM1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign
Select item 1723022	NM_001278064.2(GRM1):c.*66A>C	GRM1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1302830	NM_001278064.2(GRM1):c.*197del	GRM1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1234546	NM_001278064.2(GRM1):c.*221T>C	GRM1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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

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Items: 73