ClinVar for Gene (Select 126859821) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1948586	NM_001278064.2(GRM1):c.1602+19C>A	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 447458	NM_001278064.2(GRM1):c.1602+9C>G	GRM1, LOC126859821	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic