Related gene-specific medical variations for Gene (Select 2892) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246355	NC_000023.10:g.(?_122561772)_(122616895_?)dup	GRIA3	Duplication	not provided	GUncertain significance
Select item 3246344	NC_000023.10:g.(?_122318388)_(122387413_?)dup	GRIA3	Duplication	not provided	GUncertain significance
Select item 3065536	NM_007325.5(GRIA3):c.628G>C (p.Asp210His)	GRIA3 (D210H)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2689159	NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)	GRIA3 (Y800C)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 1340546	GRCh37/hg19 Xq25(chrX:122329267-122604200)x2	GRIA3	Copy number gain	not provided	GUncertain significance
Select item 1184928	NM_007325.5(GRIA3):c.1672del (p.Cys558fs)	GRIA3 (C558fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 688984	GRCh37/hg19 Xq25(chrX:122460513-122510025)x3	GRIA3	Copy number gain	not provided	GUncertain significance
Select item 564892	GRCh37/hg19 Xq25(chrX:122061189-122340944)x2	GRIA3	Copy number gain	not provided	GUncertain significance
Select item 561018	NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu)	GRIA3 (M706L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 443722	GRCh37/hg19 Xq25(chrX:121877550-122445667)x3	GRIA3	Copy number gain	See cases	GUncertain significance
Select item 149038	GRCh38/hg38 Xq25(chrX:123468978-123583021)x2	GRIA3	Copy number gain	See cases	GUncertain significance
Select item 145141	GRCh38/hg38 Xq25(chrX:123473778-123593934)x2	GRIA3	Copy number gain	See cases	GPathogenic
Select item 60366	GRCh38/hg38 Xq25(chrX:123469532-123590128)x2	GRIA3	Copy number gain	See cases	GUncertain significance