Psmb10 Variant Search Result - Rat Genome Database

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36 records found for search term Psmb10

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
598203560	CV3896462	single nucleotide variant	NM_002801.4(PSMB10):c.56+1G>A	Proteasome-associated autoinflammatory syndrome 5 [RCV005356702]	uncertain significance	16	67936693	67936693	Human	1	name
405867669	CV3400944	single nucleotide variant	NM_002801.4(PSMB10):c.710+1G>C	Proteasome-associated autoinflammatory syndrome 5 [RCV004577062]	pathogenic	16	67934796	67934796	Human	1	name
401903355	CV2817589	single nucleotide variant	NM_002801.4(PSMB10):c.9G>A (p.Lys3=)	not provided [RCV003419379]	likely benign	16	67936741	67936741	Human		name
598124890	CV3885456	single nucleotide variant	NM_002801.4(PSMB10):c.60T>C (p.Asn20=)	not specified [RCV005240034]	likely benign	16	67936482	67936482	Human		name
401911735	CV2808059	single nucleotide variant	NM_002801.4(PSMB10):c.660T>C (p.Thr220=)	not provided [RCV003426748]	likely benign	16	67934847	67934847	Human		name
401903354	CV2817588	single nucleotide variant	NM_002801.4(PSMB10):c.53A>C (p.Gln18Pro)	not provided [RCV003419378]	likely benign	16	67936697	67936697	Human		name
405661872	CV3378494	single nucleotide variant	NM_002801.4(PSMB10):c.45G>T (p.Glu15Asp)	not specified [RCV004513268]	uncertain significance	16	67936705	67936705	Human		name
405662034	CV3378496	single nucleotide variant	NM_002801.4(PSMB10):c.711G>A (p.Arg237=)	not specified [RCV004513270]	likely benign	16	67934671	67934671	Human		name
405867668	CV3400943	duplication	NM_002801.4(PSMB10):c.247dup (p.Cys83fs)	Proteasome-associated autoinflammatory syndrome 5 [RCV004577061]	pathogenic	16	67936098	67936099	Human	1	name
597749791	CV3592003	single nucleotide variant	NM_002801.4(PSMB10):c.98C>G (p.Pro33Arg)	not specified [RCV004846299]	uncertain significance	16	67936444	67936444	Human		name
597749796	CV3592004	single nucleotide variant	NM_002801.4(PSMB10):c.92A>G (p.Lys31Arg)	not specified [RCV004846300]	likely benign	16	67936450	67936450	Human		name
42724046	CV984729	single nucleotide variant	NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser)	Proteasome-associated autoinflammatory syndrome 5 [RCV001291934]	pathogenic	16	67936709	67936709	Human	1	name
156085784	CV2340842	single nucleotide variant	NM_002801.4(PSMB10):c.148G>C (p.Gly50Arg)	not specified [RCV004188199]	uncertain significance	16	67936309	67936309	Human		name
405661866	CV3378492	single nucleotide variant	NM_002801.4(PSMB10):c.251G>A (p.Gly84Glu)	not specified [RCV004513266]	uncertain significance	16	67936095	67936095	Human		name
405867672	CV3400947	single nucleotide variant	NM_002801.4(PSMB10):c.166G>C (p.Asp56His)	Immunodeficiency 121 with autoinflammation [RCV004577065]	pathogenic	16	67936291	67936291	Human	1	name
596932943	CV3539571	single nucleotide variant	NM_002801.4(PSMB10):c.218T>C (p.Ile73Thr)	not provided [RCV004794196]\|not specified [RCV005264567]	uncertain significance	16	67936239	67936239	Human		name
617149654	CV4021333	deletion	NM_002801.4(PSMB10):c.366del (p.Arg123fs)	not provided [RCV005425302]	uncertain significance	16	67935980	67935980	Human		name
155975038	CV2270034	single nucleotide variant	NM_002801.4(PSMB10):c.424G>A (p.Val142Ile)	not specified [RCV004129014]	uncertain significance	16	67935657	67935657	Human		name
156060356	CV2323090	single nucleotide variant	NM_002801.4(PSMB10):c.401G>A (p.Gly134Asp)	not specified [RCV004187505]	uncertain significance	16	67935680	67935680	Human		name
243051002	CV2413590	single nucleotide variant	NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)	Proteasome-associated autoinflammatory syndrome 5 [RCV003130347]	uncertain significance	16	67934878	67934878	Human	1	name
243059741	CV2413591	single nucleotide variant	NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)	Proteasome-associated autoinflammatory syndrome 5 [RCV003135155]\|not specified [RCV004246050]	uncertain significance	16	67934646	67934646	Human	1	name
401757806	CV2685559	single nucleotide variant	NM_002801.4(PSMB10):c.361A>G (p.Ile121Val)	not specified [RCV004294571]	likely benign	16	67935985	67935985	Human		name
401761214	CV2689067	single nucleotide variant	NM_002801.4(PSMB10):c.718C>T (p.Arg240Cys)	not specified [RCV004305838]	uncertain significance	16	67934664	67934664	Human		name
401730807	CV2711506	single nucleotide variant	NM_002801.4(PSMB10):c.643T>A (p.Cys215Ser)	not specified [RCV004306821]	uncertain significance	16	67934864	67934864	Human		name
405661869	CV3378493	single nucleotide variant	NM_002801.4(PSMB10):c.367C>T (p.Arg123Cys)	not specified [RCV004513267]	likely benign	16	67935979	67935979	Human		name
405661874	CV3378495	single nucleotide variant	NM_002801.4(PSMB10):c.703G>A (p.Val235Met)	not specified [RCV004513269]	uncertain significance	16	67934804	67934804	Human		name
405867667	CV3400942	single nucleotide variant	NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)	Proteasome-associated autoinflammatory syndrome 5 [RCV004577060]	pathogenic	16	67935478	67935478	Human	1	name
405867670	CV3400945	single nucleotide variant	NM_002801.4(PSMB10):c.601G>A (p.Gly201Arg)	Immunodeficiency 121 with autoinflammation [RCV004577063]	pathogenic	16	67934906	67934906	Human	1	name
405867671	CV3400946	single nucleotide variant	NM_002801.4(PSMB10):c.601G>C (p.Gly201Arg)	Immunodeficiency 121 with autoinflammation [RCV004577064]	pathogenic	16	67934906	67934906	Human	1	name
407531676	CV3471871	single nucleotide variant	NM_002801.4(PSMB10):c.719G>T (p.Arg240Leu)	not specified [RCV004657728]	uncertain significance	16	67934663	67934663	Human		name
408384434	CV3505341	single nucleotide variant	NM_002801.4(PSMB10):c.392G>A (p.Gly131Asp)	PSMB10-related disorder [RCV004731808]	uncertain significance	16	67935689	67935689	Human		name , trait , alternate_id
597749802	CV3592005	single nucleotide variant	NM_002801.4(PSMB10):c.490A>G (p.Thr164Ala)	not specified [RCV004846301]	uncertain significance	16	67935591	67935591	Human		name
597749807	CV3592006	single nucleotide variant	NM_002801.4(PSMB10):c.680C>T (p.Thr227Ile)	not specified [RCV004846302]	uncertain significance	16	67934827	67934827	Human		name
598170628	CV3908108	single nucleotide variant	NM_002801.4(PSMB10):c.677G>A (p.Arg226Gln)	not specified [RCV005263150]	uncertain significance	16	67934830	67934830	Human		name
405867666	CV3400941	deletion	NM_002801.4(PSMB10):c.40_42del (p.Phe14del)	Proteasome-associated autoinflammatory syndrome 5 [RCV004577059]	pathogenic	16	67936708	67936710	Human	1	name
401919444	CV2798364	microsatellite	NM_002801.4(PSMB10):c.212AGA[1] (p.Lys72del)	PSMB10-related disorder [RCV003402342]	uncertain significance	16	67936240	67936242	Human		name , trait , alternate_id

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