N4BP2L2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408636	NM_033111.5(N4BP2L2):c.2146A>G (p.Met716Val)	N4BP2L2 (M1048V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389336	NM_033111.5(N4BP2L2):c.1918A>G (p.Ile640Val)	N4BP2L2 (I539V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250820	NM_033111.5(N4BP2L2):c.1566T>A (p.His522Gln)	N4BP2L2 (H507Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389333	NM_033111.5(N4BP2L2):c.1562A>T (p.Asn521Ile)	N4BP2L2 (N466I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599575	NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs)	N4BP2L2 (N913fs +7 more)	Duplication (frameshift variant +1 more)	Short stature	GPathogenic
Select item 2350074	NM_033111.5(N4BP2L2):c.926C>T (p.Thr309Ile)	N4BP2L2 (T294I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170912	NM_033111.5(N4BP2L2):c.548C>T (p.Pro183Leu)	N4BP2L2 (P82L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170899	NM_014887.3(N4BP2L2):c.1399G>C (p.Asp467His)	N4BP2L2 (D139H +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2611082	NM_014887.3(N4BP2L2):c.1399G>A (p.Asp467Asn)	N4BP2L2 (D38N +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2218243	NM_014887.3(N4BP2L2):c.1310A>G (p.Tyr437Cys)	N4BP2L2 (Y109C +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance