ClinVar for Gene (Select 6184) - ClinVar

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Links from Gene

Items: 49

	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 3315234	NM_002950.4(RPN1):c.456G>C (p.Gln152His)	RPN1 (Q152H)	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 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 3315230	NM_002950.4(RPN1):c.352C>T (p.Pro118Ser)	RPN1 (P118S)	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 3156133	NM_002950.4(RPN1):c.739A>G (p.Asn247Asp)	RPN1 (N247D)	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 3156131	NM_002950.4(RPN1):c.463G>A (p.Val155Met)	RPN1 (V155M)	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 3156128	NM_002950.4(RPN1):c.194G>A (p.Arg65Gln)	RPN1 (R65Q)	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 3156126	NM_002950.4(RPN1):c.1286C>T (p.Thr429Met)	RPN1 (T429M)	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 2530890	NM_002950.4(RPN1):c.1502A>G (p.Asn501Ser)	RPN1 (N501S)	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 2487273	NM_002950.4(RPN1):c.1694C>T (p.Ser565Leu)	RPN1 (S565L)	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 2455412	NM_002950.4(RPN1):c.1573G>C (p.Ala525Pro)	RPN1 (A525P)	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 2358618	NM_002950.4(RPN1):c.539G>A (p.Arg180Gln)	RPN1 (R180Q)	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 2336884	NM_002950.4(RPN1):c.1340A>G (p.Tyr447Cys)	RPN1 (Y447C)	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 2254204	NM_002950.4(RPN1):c.8C>T (p.Ala3Val)	LOC129937522, RPN1 (A3V)	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 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 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 831903	NC_000003.12:g.(?_128480999)_(128912627_?)del	LINC01565, ACAD9 +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 774848	NM_002950.4(RPN1):c.633+6C>T	RPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720033	NM_002950.4(RPN1):c.1647C>T (p.Ser549=)	RPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713300	NM_002950.4(RPN1):c.1394A>G (p.Lys465Arg)	RPN1 (K465R)	Single nucleotide variant (missense 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 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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 151827	GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3	LOC129937522, LOC129937523 +9 more	Copy number gain	See cases	GUncertain significance
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 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	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 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 49