Related gene-specific medical variations for Gene (Select 106783493) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052857	NM_001346810.2(DLGAP2):c.3147C>G (p.Pro1049=)	DLGAP2, LOC106783493	Single nucleotide variant (synonymous variant)	DLGAP2-related condition	GLikely benign
Select item 3037262	NM_001346810.2(DLGAP2):c.3117G>A (p.Glu1039=)	DLGAP2, LOC106783493	Single nucleotide variant (synonymous variant)	DLGAP2-related condition	GLikely benign
Select item 2468496	NM_001346810.2(DLGAP2):c.3083G>A (p.Arg1028Gln)	DLGAP2, LOC106783493 (R1028Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285546	NM_001346810.2(DLGAP2):c.3077C>T (p.Ala1026Val)	LOC106783493, DLGAP2 (A1026V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264484	NM_001346810.2(DLGAP2):c.3032T>A (p.Leu1011Gln)	LOC106783493, DLGAP2 (L1011Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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