"Ambry Genetics"[submitter] AND "NOL4"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2207697	NM_003787.5(NOL4):c.1757C>T (p.Ala586Val)	NOL4 (A335V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201054	NM_003787.5(NOL4):c.1616C>T (p.Pro539Leu)	NOL4 (P496L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201053	NM_003787.5(NOL4):c.1582G>A (p.Ala528Thr)	NOL4 (A243T +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201052	NM_003787.5(NOL4):c.1525C>T (p.Arg509Cys)	NOL4 (R194C +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300273	NM_003787.5(NOL4):c.1340A>C (p.Gln447Pro)	NOL4 (Q162P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529311	NM_003787.5(NOL4):c.1199C>T (p.Thr400Ile)	NOL4 (T115I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241855	NM_003787.5(NOL4):c.1063G>A (p.Ala355Thr)	NOL4 (A378T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396513	NM_003787.5(NOL4):c.1031G>A (p.Arg344Gln)	NOL4 (R189Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367909	NM_003787.5(NOL4):c.1030C>G (p.Arg344Gly)	NOL4 (R59G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261451	NM_003787.5(NOL4):c.1010T>C (p.Ile337Thr)	NOL4 (I263T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532661	NM_003787.5(NOL4):c.961A>G (p.Ile321Val)	NOL4 (I166V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382611	NM_003787.5(NOL4):c.952G>C (p.Glu318Gln)	NOL4 (E244Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201056	NM_003787.5(NOL4):c.947C>T (p.Thr316Ile)	NOL4 (T161I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599592	NM_003787.5(NOL4):c.652A>G (p.Ile218Val)	NOL4 (I144V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300270	NM_003787.5(NOL4):c.514A>G (p.Thr172Ala)	NOL4 (T172A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300271	NM_003787.5(NOL4):c.425G>C (p.Ser142Thr)	NOL4 (S142T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300272	NM_003787.5(NOL4):c.391G>A (p.Gly131Arg)	NOL4 (G131R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208656	NM_003787.5(NOL4):c.302G>A (p.Arg101Gln)	NOL4 (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201055	NM_003787.5(NOL4):c.263C>T (p.Thr88Met)	NOL4 (T88M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514312	NM_003787.5(NOL4):c.224G>T (p.Gly75Val)	NOL4 (G75V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514311	NM_003787.5(NOL4):c.223G>T (p.Gly75Cys)	NOL4 (G75C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532436	NM_003787.5(NOL4):c.134C>T (p.Ser45Leu)	NOL4 (S45L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570462	NM_003787.5(NOL4):c.122A>G (p.Asn41Ser)	NOL4 (N41S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 23