Related gene-specific medical variations for Gene (Select 4862) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201511	NM_002518.4(NPAS2):c.1267A>G (p.Met423Val)	NPAS2, NPAS2-AS1 (M423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339490	NM_002518.4(NPAS2):c.1213A>G (p.Ser405Gly)	NPAS2, NPAS2-AS1 (S405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306155	NM_002518.4(NPAS2):c.1366G>A (p.Gly456Arg)	NPAS2, NPAS2-AS1 (G456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282780	NM_002518.4(NPAS2):c.1142A>G (p.Asp381Gly)	NPAS2, NPAS2-AS1 (D381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788958	NM_002518.4(NPAS2):c.1216C>G (p.His406Asp)	NPAS2, NPAS2-AS1 (H406D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773841	NM_002518.4(NPAS2):c.1227G>A (p.Ser409=)	NPAS2, NPAS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759157	NM_002518.4(NPAS2):c.1282+9G>A	NPAS2, NPAS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 733860	NM_002518.4(NPAS2):c.1248C>T (p.His416=)	NPAS2, NPAS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722925	NM_002518.4(NPAS2):c.1200G>C (p.Ser400=)	NPAS2, NPAS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712357	NM_002518.4(NPAS2):c.1152A>G (p.Ser384=)	NPAS2, NPAS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 242856	NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)	NPAS2, NPAS2-AS1 (P455A)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic