"Ambry Genetics"[submitter] AND "RPN1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315235	NM_002950.4(RPN1):c.1730T>C (p.Leu577Pro)	RPN1 (L577P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487273	NM_002950.4(RPN1):c.1694C>T (p.Ser565Leu)	RPN1 (S565L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455412	NM_002950.4(RPN1):c.1573G>C (p.Ala525Pro)	RPN1 (A525P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530890	NM_002950.4(RPN1):c.1502A>G (p.Asn501Ser)	RPN1 (N501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156127	NM_002950.4(RPN1):c.1391C>G (p.Thr464Ser)	RPN1 (T464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315233	NM_002950.4(RPN1):c.1372C>T (p.Arg458Trp)	RPN1 (R458W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336884	NM_002950.4(RPN1):c.1340A>G (p.Tyr447Cys)	RPN1 (Y447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156126	NM_002950.4(RPN1):c.1286C>T (p.Thr429Met)	RPN1 (T429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307316	NM_002950.4(RPN1):c.1232C>A (p.Ala411Asp)	RPN1 (A411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526188	NM_002950.4(RPN1):c.1171C>T (p.Arg391Cys)	RPN1 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476481	NM_002950.4(RPN1):c.896A>G (p.Asn299Ser)	RPN1 (N299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612666	NM_002950.4(RPN1):c.766G>C (p.Val256Leu)	RPN1 (V256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156133	NM_002950.4(RPN1):c.739A>G (p.Asn247Asp)	RPN1 (N247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315229	NM_002950.4(RPN1):c.659A>G (p.Asn220Ser)	RPN1 (N220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156132	NM_002950.4(RPN1):c.656A>C (p.Glu219Ala)	RPN1 (E219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358618	NM_002950.4(RPN1):c.539G>A (p.Arg180Gln)	RPN1 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315232	NM_002950.4(RPN1):c.527A>G (p.Lys176Arg)	RPN1 (K176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315231	NM_002950.4(RPN1):c.502A>G (p.Thr168Ala)	RPN1 (T168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156131	NM_002950.4(RPN1):c.463G>A (p.Val155Met)	RPN1 (V155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315234	NM_002950.4(RPN1):c.456G>C (p.Gln152His)	RPN1 (Q152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315230	NM_002950.4(RPN1):c.352C>T (p.Pro118Ser)	RPN1 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156129	NM_002950.4(RPN1):c.336C>G (p.Phe112Leu)	RPN1 (F112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213252	NM_002950.4(RPN1):c.266A>G (p.Lys89Arg)	RPN1 (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156128	NM_002950.4(RPN1):c.194G>A (p.Arg65Gln)	RPN1 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349930	NM_002950.4(RPN1):c.53C>T (p.Ala18Val)	RPN1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254204	NM_002950.4(RPN1):c.8C>T (p.Ala3Val)	LOC129937522, RPN1 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26