"Ambry Genetics"[submitter] AND "NUBP2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209432	NM_012225.4(NUBP2):c.95C>T (p.Ser32Phe)	NUBP2 (S32F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513648	NM_012225.4(NUBP2):c.98C>T (p.Thr33Met)	NUBP2 (T33M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2265653	NM_012225.4(NUBP2):c.217G>A (p.Asp73Asn)	NUBP2 (D73N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535128	NM_012225.4(NUBP2):c.242T>G (p.Leu81Arg)	NUBP2 (L81R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202703	NM_012225.4(NUBP2):c.247C>T (p.Arg83Trp)	NUBP2 (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225067	NM_012225.4(NUBP2):c.250G>C (p.Glu84Gln)	NUBP2 (E84Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526677	NM_012225.4(NUBP2):c.261C>G (p.Ile87Met)	NUBP2 (I27M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202704	NM_012225.4(NUBP2):c.272C>G (p.Ser91Cys)	NUBP2 (S91C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616312	NM_012225.4(NUBP2):c.274G>C (p.Val92Leu)	NUBP2 (V32L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362781	NM_012225.4(NUBP2):c.295C>T (p.Pro99Ser)	NUBP2 (P39S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381087	NM_012225.4(NUBP2):c.301G>A (p.Glu101Lys)	NUBP2 (E101K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384429	NM_012225.4(NUBP2):c.307G>A (p.Val103Met)	NUBP2 (V103M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544046	NM_012225.4(NUBP2):c.313T>C (p.Trp105Arg)	NUBP2 (W105R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388586	NM_012225.4(NUBP2):c.340A>G (p.Ile114Val)	NUBP2 (I114V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202705	NM_012225.4(NUBP2):c.348G>C (p.Gln116His)	NUBP2 (Q56H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202706	NM_012225.4(NUBP2):c.361G>A (p.Val121Met)	NUBP2 (V121M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264730	NM_012225.4(NUBP2):c.398C>T (p.Thr133Met)	NUBP2 (T133M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202707	NM_012225.4(NUBP2):c.434T>C (p.Ile145Thr)	NUBP2 (I85T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389213	NM_012225.4(NUBP2):c.491C>T (p.Ala164Val)	NUBP2 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521249	NM_012225.4(NUBP2):c.599C>T (p.Thr200Met)	NUBP2 (T59M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459007	NM_012225.4(NUBP2):c.628G>A (p.Gly210Ser)	NUBP2 (G210S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398425	NM_012225.4(NUBP2):c.731A>G (p.Gln244Arg)	NUBP2 (Q184R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2385729	NM_012225.4(NUBP2):c.742G>A (p.Gly248Arg)	NUBP2 (G248R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234812	NM_012225.4(NUBP2):c.758C>G (p.Ala253Gly)	NUBP2 (A193G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202708	NM_012225.4(NUBP2):c.800C>G (p.Pro267Arg)	NUBP2 (P267R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 25