ClinVar for Gene (Select 122706) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310964	NM_001099780.2(PSMB11):c.241T>C (p.Cys81Arg)	PSMB11 (C81R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310963	NM_001099780.2(PSMB11):c.896C>T (p.Thr299Met)	PSMB11 (T299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310962	NM_001099780.2(PSMB11):c.92G>A (p.Arg31Gln)	PSMB11 (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310961	NM_001099780.2(PSMB11):c.578G>A (p.Arg193His)	PSMB11 (R193H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220369	NM_001099780.2(PSMB11):c.97T>G (p.Cys33Gly)	PSMB11 (C33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220368	NM_001099780.2(PSMB11):c.776A>G (p.Asp259Gly)	PSMB11 (D259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220367	NM_001099780.2(PSMB11):c.757G>A (p.Glu253Lys)	PSMB11 (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220365	NM_001099780.2(PSMB11):c.368C>T (p.Pro123Leu)	PSMB11 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220364	NM_001099780.2(PSMB11):c.265C>A (p.His89Asn)	PSMB11 (H89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220363	NM_001099780.2(PSMB11):c.14A>T (p.Asp5Val)	PSMB11 (D5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220362	NM_001099780.2(PSMB11):c.120G>T (p.Gln40His)	PSMB11 (Q40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2672151	NM_001099780.2(PSMB11):c.200C>A (p.Thr67Lys)	PSMB11 (T67K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644085	NM_001099780.2(PSMB11):c.344G>A (p.Arg115Gln)	PSMB11 (R115Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2594364	NM_001099780.2(PSMB11):c.40A>T (p.Thr14Ser)	PSMB11 (T14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513038	NM_001099780.2(PSMB11):c.643C>T (p.Arg215Cys)	PSMB11 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2409720	NM_001099780.2(PSMB11):c.617G>A (p.Arg206His)	PSMB11 (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394930	NM_001099780.2(PSMB11):c.682G>A (p.Val228Met)	PSMB11 (V228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392634	NM_001099780.2(PSMB11):c.167G>A (p.Arg56His)	PSMB11 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386201	NM_001099780.2(PSMB11):c.104C>T (p.Pro35Leu)	PSMB11 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370035	NM_001099780.2(PSMB11):c.68G>A (p.Arg23Gln)	PSMB11 (R23Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365536	NM_001099780.2(PSMB11):c.125A>G (p.His42Arg)	PSMB11 (H42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362783	NM_001099780.2(PSMB11):c.583G>A (p.Asp195Asn)	PSMB11 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356951	NM_001099780.2(PSMB11):c.329G>A (p.Arg110Gln)	PSMB11 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354668	NM_001099780.2(PSMB11):c.463C>T (p.Arg155Cys)	PSMB11 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316107	NM_001099780.2(PSMB11):c.152C>T (p.Thr51Ile)	PSMB11 (T51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313085	NM_001099780.2(PSMB11):c.686G>A (p.Arg229Gln)	PSMB11 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288694	NM_001099780.2(PSMB11):c.200C>T (p.Thr67Met)	PSMB11 (T67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285897	NM_001099780.2(PSMB11):c.481T>C (p.Phe161Leu)	PSMB11 (F161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254940	NM_001099780.2(PSMB11):c.251T>A (p.Ile84Asn)	PSMB11 (I84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247712	NM_001099780.2(PSMB11):c.358G>A (p.Gly120Ser)	PSMB11 (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238684	NM_001099780.2(PSMB11):c.577C>T (p.Arg193Cys)	PSMB11 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216843	NM_001099780.2(PSMB11):c.89C>G (p.Pro30Arg)	PSMB11 (P30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212007	NM_001099780.2(PSMB11):c.487G>A (p.Val163Ile)	PSMB11 (V163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	AKAP6, CEBPE +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980002	GRCh37/hg19 14q11.2(chr14:23457638-23698285)x3	C14orf93, PSMB11 +6 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 786245	NM_001099780.2(PSMB11):c.622G>A (p.Ala208Thr)	PSMB11 (A208T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781834	NM_001099780.2(PSMB11):c.607G>A (p.Ala203Thr)	PSMB11 (A203T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771191	NM_001099780.2(PSMB11):c.145G>A (p.Gly49Ser)	PSMB11 (G49S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770995	NM_001099780.2(PSMB11):c.486C>T (p.Tyr162=)	PSMB11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710367	NM_001099780.2(PSMB11):c.237del (p.Ser80fs)	PSMB11 (S80fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60