"Ambry Genetics"[submitter] AND "UPP2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550284	NM_173355.4(UPP2):c.-11T>C	UPP2 (I54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186841	NM_173355.4(UPP2):c.5C>G (p.Ala2Gly)	UPP2 (A59G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186842	NM_173355.4(UPP2):c.8C>T (p.Ser3Leu)	UPP2 (S3L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186843	NM_173355.4(UPP2):c.29G>A (p.Arg10Lys)	UPP2 (R10K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186844	NM_173355.4(UPP2):c.79G>A (p.Val27Ile)	UPP2 (V27I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508037	NM_173355.4(UPP2):c.193G>A (p.Gly65Ser)	UPP2 (G122S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489514	NM_173355.4(UPP2):c.241G>A (p.Glu81Lys)	UPP2 (E138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621733	NM_173355.4(UPP2):c.242A>G (p.Glu81Gly)	UPP2 (E138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384756	NM_173355.4(UPP2):c.247G>A (p.Gly83Arg)	UPP2 (G83R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186845	NM_173355.4(UPP2):c.253G>C (p.Glu85Gln)	UPP2 (E142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331162	NM_173355.4(UPP2):c.308T>C (p.Met103Thr)	UPP2 (M103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352037	NM_173355.4(UPP2):c.406C>T (p.Arg136Trp)	UPP2 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527092	NM_173355.4(UPP2):c.436G>A (p.Gly146Ser)	UPP2 (G203S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186846	NM_173355.4(UPP2):c.437G>C (p.Gly146Ala)	UPP2 (G146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517826	NM_173355.4(UPP2):c.515G>A (p.Arg172Gln)	UPP2 (R172Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186847	NM_173355.4(UPP2):c.540C>G (p.Asn180Lys)	UPP2 (N180K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261701	NM_173355.4(UPP2):c.594C>A (p.Asn198Lys)	UPP2 (N255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235631	NM_173355.4(UPP2):c.643T>C (p.Cys215Arg)	UPP2 (C215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186848	NM_173355.4(UPP2):c.674G>T (p.Arg225Leu)	UPP2 (R282L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292837	NM_173355.4(UPP2):c.758T>C (p.Ile253Thr)	UPP2 (I253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295794	NM_173355.4(UPP2):c.809A>G (p.Lys270Arg)	UPP2 (K327R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186838	NM_173355.4(UPP2):c.830C>T (p.Thr277Ile)	UPP2 (T277I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186839	NM_173355.4(UPP2):c.869C>T (p.Pro290Leu)	UPP2 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245249	NM_173355.4(UPP2):c.916T>C (p.Ser306Pro)	UPP2 (S363P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331163	NM_173355.4(UPP2):c.921C>A (p.Asn307Lys)	UPP2 (N364K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331164	NM_173355.4(UPP2):c.925A>G (p.Ile309Val)	UPP2 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373969	NM_173355.4(UPP2):c.932G>A (p.Arg311Gln)	UPP2 (R311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401101	NM_173355.4(UPP2):c.935G>A (p.Arg312Gln)	UPP2 (R369Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28