ClinVar for Gene (Select 29978) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374836	NM_013444.4(UBQLN2):c.1029C>A (p.Gly343=)	UBQLN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3358437	NM_013444.4(UBQLN2):c.901T>C (p.Ser301Pro)	UBQLN2 (S301P)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 3350345	NM_013444.4(UBQLN2):c.683C>A (p.Pro228Gln)	UBQLN2 (P228Q)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 3350044	NM_013444.4(UBQLN2):c.111G>T (p.Val37=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3347732	NM_013444.4(UBQLN2):c.202C>G (p.Gln68Glu)	UBQLN2 (Q68E)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 3346335	NM_013444.4(UBQLN2):c.1497_1550del (p.Ile501_Pro518del)	UBQLN2	Deletion (inframe_deletion)	UBQLN2-related disorder	GUncertain significance
Select item 3344277	NM_013444.4(UBQLN2):c.1366A>G (p.Met456Val)	UBQLN2 (M456V)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 3336842	NM_013444.4(UBQLN2):c.1663C>T (p.Pro555Ser)	UBQLN2 (P555S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GLikely pathogenic
Select item 3330657	NM_013444.4(UBQLN2):c.341A>G (p.Gln114Arg)	UBQLN2 (Q114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257226	NM_013444.4(UBQLN2):c.-4C>T	UBQLN2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3255106	NM_013444.4(UBQLN2):c.1126A>G (p.Ile376Val)	UBQLN2 (I376V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3233710	NM_013444.4(UBQLN2):c.1818A>C (p.Ala606=)	UBQLN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233482	NM_013444.4(UBQLN2):c.981G>C (p.Gln327His)	UBQLN2 (Q327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3057344	NM_013444.4(UBQLN2):c.1457G>C (p.Gly486Ala)	UBQLN2 (G486A)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 3046320	NM_013444.4(UBQLN2):c.141G>A (p.Ala47=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3043611	NM_013444.4(UBQLN2):c.348C>T (p.Ser116=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3036871	NM_013444.4(UBQLN2):c.1728G>C (p.Pro576=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3029753	NM_013444.4(UBQLN2):c.1437T>G (p.Gly479=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3019910	NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)	UBQLN2 (L96M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2995271	NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)	UBQLN2 (Q425H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2976478	NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2975791	NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)	UBQLN2 (I501M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2974505	NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)	UBQLN2 (T508N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2916861	NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2915312	NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 2914332	NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)	UBQLN2 (P440S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2896070	NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)	UBQLN2 (T350I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2884352	NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2883380	NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2856652	NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2834060	NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)	UBQLN2 (S527P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2828655	NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)	LOC130068339, UBQLN2 (I215M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2818381	NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)	UBQLN2 (S260N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2800157	NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)	UBQLN2 (S147I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2779418	NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)	UBQLN2 (A361T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance
Select item 2772737	NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2755691	NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)	UBQLN2 (P578L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2747675	NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)	UBQLN2 (T326I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2732616	NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)	UBQLN2 (T334M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2729522	NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2714065	NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2710405	NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)	UBQLN2 (I275L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2705240	NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)	UBQLN2 (G343D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2702115	NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)	UBQLN2 (A26S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2698191	NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2690408	NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)	UBQLN2 (T508A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2685749	GRCh37/hg19 Xp11.21(chrX:56246851-56758100)x2	KLF8, UBQLN2	Copy number gain	not provided	GUncertain significance
Select item 2683591	NM_013444.4(UBQLN2):c.253G>C (p.Asp85His)	UBQLN2 (D85H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660710	NM_013444.4(UBQLN2):c.1596C>T (p.Gly532=)	UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660709	NM_013444.4(UBQLN2):c.144G>A (p.Val48=)	UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630374	NM_013444.4(UBQLN2):c.1517C>T (p.Pro506Leu)	UBQLN2 (P506L)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GLikely pathogenic
Select item 2580568	NM_013444.4(UBQLN2):c.1619G>C (p.Ser540Thr)	UBQLN2 (S540T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574517	NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)	UBQLN2 (A523V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2502123	NM_013444.4(UBQLN2):c.267G>T (p.Gln89His)	UBQLN2 (Q89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469858	NM_013444.4(UBQLN2):c.1007C>T (p.Thr336Ile)	UBQLN2 (T336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443452	NM_013444.4(UBQLN2):c.509_510delinsTA (p.Gln170Leu)	LOC130068339, UBQLN2 (Q170L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2419975	NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)	UBQLN2 (A2S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2419797	NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)	UBQLN2 (T464I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2418669	NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2286700	NM_013444.4(UBQLN2):c.1043A>G (p.Asn348Ser)	UBQLN2 (N348S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2170914	NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)	LOC130068339, UBQLN2 (Q216H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2169931	NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)	UBQLN2 (P17S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2169288	NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)	UBQLN2 (N122D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2166024	NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2162807	NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)	UBQLN2 (Q574H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2153973	NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2153972	NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2153971	NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2153970	NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2153969	NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2153968	NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2152427	NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)	UBQLN2 (Q109H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 2145223	NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)	UBQLN2 (P525A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2138583	NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)	UBQLN2 (P494L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2138582	NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)	UBQLN2 (S155N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2127416	NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 2122898	NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2095462	NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2091334	NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)	UBQLN2 (E598D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2062128	NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)	UBQLN2 (S371N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2061827	NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2047848	NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)	UBQLN2 (A282V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2024027	NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])	UBQLN2	Microsatellite (inframe_indel +1 more)	Amyotrophic lateral sclerosis type 15 +1 more	GBenign/Likely benign
Select item 1988072	NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15 +1 more	GLikely benign
Select item 1984118	NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 1983075	NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)	UBQLN2 (T134I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1981812	NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)	LOC130068339, UBQLN2 (S165F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1956246	NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15 +1 more	GBenign/Likely benign
Select item 1940920	NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)	UBQLN2 (G120A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1933155	NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)	UBQLN2 (T123S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1923563	NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)	UBQLN2 (V354L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1921443	NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)	UBQLN2 (S347N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1912225	NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)	UBQLN2 (G144E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1910274	NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 1908407	NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)	UBQLN2 (Q584H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 1900727	NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)	UBQLN2 (A542S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance

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