RPN1[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
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 720033	NM_002950.4(RPN1):c.1647C>T (p.Ser549=)	RPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 713300	NM_002950.4(RPN1):c.1394A>G (p.Lys465Arg)	RPN1 (K465R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 981860	NM_002950.4(RPN1):c.712C>T (p.His238Tyr)	RPN1 (H238Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	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 774848	NM_002950.4(RPN1):c.633+6C>T	RPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709402	NM_002950.4(RPN1):c.576G>A (p.Thr192=)	RPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 151827	GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3	LOC129937522, LOC129937523 +9 more	Copy number gain	See cases	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
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340812	GRCh37/hg19 3q21.3(chr3:128163252-128660960)x3	ACAD9, DNAJB8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183986	Single allele	DNAJB8, EEFSEC +4 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 831903	NC_000003.12:g.(?_128480999)_(128912627_?)del	LINC01565, ACAD9 +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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: 49