"Ambry Genetics"[submitter] AND "PSMD11"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306433	NM_002815.4(PSMD11):c.17T>C (p.Val6Ala)	PSMD11 (V6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308356	NM_002815.4(PSMD11):c.260G>A (p.Arg87His)	PSMD11 (R87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287631	NM_002815.4(PSMD11):c.307A>G (p.Thr103Ala)	PSMD11 (T103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359056	NM_002815.4(PSMD11):c.331T>A (p.Leu111Ile)	PSMD11 (L111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220425	NM_002815.4(PSMD11):c.419C>G (p.Thr140Ser)	PSMD11 (T140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220426	NM_002815.4(PSMD11):c.491C>G (p.Ala164Gly)	PSMD11 (A164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391330	NM_002815.4(PSMD11):c.646A>G (p.Ile216Val)	PSMD11 (I216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254092	NM_002815.4(PSMD11):c.655G>A (p.Ala219Thr)	PSMD11 (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218888	NM_002815.4(PSMD11):c.698A>G (p.Tyr233Cys)	PSMD11 (Y233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220427	NM_002815.4(PSMD11):c.740C>T (p.Ala247Val)	PSMD11 (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552422	NM_002815.4(PSMD11):c.775A>C (p.Ile259Leu)	PSMD11 (I259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220428	NM_002815.4(PSMD11):c.865T>C (p.Cys289Arg)	PSMD11 (C289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596514	NM_002815.4(PSMD11):c.940C>T (p.Arg314Trp)	PSMD11 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560702	NM_002815.4(PSMD11):c.1246A>G (p.Asn416Asp)	PSMD11 (N416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance