C4521563[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 585954	NM_001278064.2(GRM1):c.2007G>T (p.Ala669=)	GRM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 585955	NM_001278064.2(GRM1):c.2043T>C (p.Arg681=)	GRM1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign/Likely benign
Select item 585957	NM_001278064.2(GRM1):c.2364G>C (p.Ala788=)	GRM1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign/Likely benign
Select item 585958	NM_001278064.2(GRM1):c.2496T>C (p.Thr832=)	GRM1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 13 +2 more	GBenign/Likely benign
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 1335648	NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)	GRM1 (P970L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 447463	NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)	GRM1 (G1054D)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 44 +3 more	GBenign/Likely benign
Select item 445990	NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)	GRM1 (P1072A)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 44 +2 more	GBenign/Likely benign