NPAS2-AS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 152113	GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3	CNOT11, CREG2 +31 more	Copy number gain	See cases	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 712357	NM_002518.4(NPAS2):c.1152A>G (p.Ser384=)	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 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 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 733860	NM_002518.4(NPAS2):c.1248C>T (p.His416=)	NPAS2, NPAS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 759157	NM_002518.4(NPAS2):c.1282+9G>A	NPAS2, NPAS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
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

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Items: 20