Related gene-specific medical variations for Gene (Select 339123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343961	NM_005861.4(STUB1):c.722G>C (p.Arg241Pro)	JMJD8, STUB1 (R169P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342376	NM_005861.4(STUB1):c.586C>T (p.Gln196Ter)	JMJD8, STUB1 (Q124* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3340972	NM_005861.4(STUB1):c.772G>T (p.Glu258Ter)	JMJD8, STUB1 (E186* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3338115	NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)	JMJD8, STUB1 (Q190* +1 more)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 3257486	NM_005861.4(STUB1):c.613-8C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3256994	NM_005861.4(STUB1):c.788G>A (p.Arg263His)	JMJD8, STUB1 (R191H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253121	NM_005861.4(STUB1):c.888G>T (p.Glu296Asp)	JMJD8, STUB1 (E224D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3238956	NM_005861.4(STUB1):c.848A>G (p.Asn283Ser)	JMJD8, STUB1 (N211S +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3238772	NM_005861.4(STUB1):c.755A>G (p.Tyr252Cys)	JMJD8, STUB1 (Y180C +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3171714	NM_005861.4(STUB1):c.658G>A (p.Glu220Lys)	JMJD8, STUB1 (E148K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3171713	NM_005861.4(STUB1):c.626C>T (p.Ala209Val)	JMJD8, STUB1 (A209V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3171712	NM_005861.4(STUB1):c.581G>A (p.Arg194Gln)	JMJD8, STUB1 (R194Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3112428	NM_001005920.4(JMJD8):c.34G>A (p.Ala12Thr)	JMJD8, LOC130058122 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3112425	NM_001005920.4(JMJD8):c.16C>G (p.Arg6Gly)	JMJD8, LOC130058122 (R6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063578	NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)	JMJD8, STUB1	Deletion (inframe_deletion +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3027432	NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)	JMJD8, STUB1 (P171L +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48 +1 more	GConflicting classifications of pathogenicity
Select item 3019976	NM_005861.4(STUB1):c.669+5GT[3]	JMJD8, STUB1	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2995712	NM_005861.4(STUB1):c.787-16C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2992287	NM_005861.4(STUB1):c.525-4C>T	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2990049	NM_005861.4(STUB1):c.525-19G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2967654	NM_005861.4(STUB1):c.670-20C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2965516	NM_005861.4(STUB1):c.525-17T>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2960693	NM_005861.4(STUB1):c.786+11C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2959210	NM_005861.4(STUB1):c.669+14G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2956318	NM_005861.4(STUB1):c.787-17C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2846333	NM_005861.4(STUB1):c.677A>G (p.Asp226Gly)	JMJD8, STUB1 (D226G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2796640	NM_005861.4(STUB1):c.612+16A>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2791695	NM_005861.4(STUB1):c.819C>T (p.Ser273=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2777378	NM_005861.4(STUB1):c.612+6_612+7delinsTT	JMJD8, STUB1	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2766222	NM_005861.4(STUB1):c.807C>T (p.Pro269=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2718919	NM_005861.4(STUB1):c.831G>A (p.Gln277=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2708089	NM_005861.4(STUB1):c.714G>A (p.Glu238=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2706655	NM_005861.4(STUB1):c.886G>C (p.Glu296Gln)	JMJD8, STUB1 (E296Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2696096	NM_005861.4(STUB1):c.669+9G>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2694750	NM_005861.4(STUB1):c.587A>G (p.Gln196Arg)	JMJD8, STUB1 (Q124R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2645848	NM_005861.4(STUB1):c.627G>A (p.Ala209=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2645847	NM_005861.4(STUB1):c.568G>A (p.Asp190Asn)	JMJD8, STUB1 (D118N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2645846	NM_005861.4(STUB1):c.552C>T (p.His184=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2623316	NM_001005920.4(JMJD8):c.92C>A (p.Pro31Gln)	JMJD8, LOC130058122 (P31Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579395	NM_005861.4(STUB1):c.752C>A (p.Thr251Asn)	JMJD8, STUB1 (T179N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2570918	NM_005861.4(STUB1):c.771C>T (p.Ile257=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2504526	NM_005861.4(STUB1):c.636C>G (p.Asp212Glu)	JMJD8, STUB1 (D140E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2498635	NM_001005920.4(JMJD8):c.*300G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2495086	NM_001005920.4(JMJD8):c.155C>T (p.Thr52Ile)	JMJD8, LOC130058122 (T52I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461785	NM_005861.4(STUB1):c.575A>G (p.His192Arg)	JMJD8, STUB1 (H192R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2443273	NM_005861.4(STUB1):c.786G>C (p.Gln262His)	JMJD8, STUB1 (Q190H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2417182	NM_005861.4(STUB1):c.870T>C (p.Ile290=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2414062	NM_005861.4(STUB1):c.854C>T (p.Ala285Val)	JMJD8, STUB1 (A213V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2394390	NM_001005920.4(JMJD8):c.134T>G (p.Val45Gly)	JMJD8, LOC130058122 (V45G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361018	NM_001005920.4(JMJD8):c.67G>A (p.Ala23Thr)	JMJD8, LOC130058122 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345209	NM_001005920.4(JMJD8):c.107C>T (p.Ala36Val)	JMJD8, LOC130058122 (A36V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285565	NM_001005920.4(JMJD8):c.97G>A (p.Gly33Arg)	JMJD8, LOC130058122 (G33R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247926	NM_001005920.4(JMJD8):c.137A>G (p.Glu46Gly)	JMJD8, LOC130058122 (E46G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241193	NM_001005920.4(JMJD8):c.16C>T (p.Arg6Trp)	JMJD8, LOC130058122 (R6W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211480	NM_001005920.4(JMJD8):c.139C>T (p.Arg47Cys)	JMJD8, LOC130058122 (R47C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210884	NM_001005920.4(JMJD8):c.101C>T (p.Pro34Leu)	JMJD8, LOC130058122 (P34L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209306	NM_001005920.4(JMJD8):c.62C>T (p.Ser21Phe)	JMJD8, LOC130058122 (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2188171	NM_005861.4(STUB1):c.756C>T (p.Tyr252=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2181986	NM_005861.4(STUB1):c.873C>T (p.Asp291=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2090388	NM_005861.4(STUB1):c.539G>A (p.Cys180Tyr)	JMJD8, STUB1 (C180Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2072318	NM_005861.4(STUB1):c.729G>A (p.Pro243=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2070282	NM_005861.4(STUB1):c.612+15dup	JMJD8, STUB1	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2068965	NM_005861.4(STUB1):c.577G>A (p.Val193Ile)	JMJD8, STUB1 (V121I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2045145	NM_005861.4(STUB1):c.543G>T (p.Gln181His)	JMJD8, STUB1 (Q109H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2032470	NM_005861.4(STUB1):c.669+7G>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1991236	NM_005861.4(STUB1):c.669+13C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1988697	NM_005861.4(STUB1):c.669+14G>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1980459	NM_005861.4(STUB1):c.545G>A (p.Arg182Gln)	JMJD8, STUB1 (R110Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1952044	NM_005861.4(STUB1):c.876A>C (p.Ala292=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1946259	NM_005861.4(STUB1):c.640C>G (p.Leu214Val)	JMJD8, STUB1 (L142V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1926384	NM_005861.4(STUB1):c.615C>G (p.Asp205Glu)	JMJD8, STUB1 (D133E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1916164	NM_005861.4(STUB1):c.636C>T (p.Asp212=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1909215	NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)	JMJD8, STUB1 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1906979	NM_005861.4(STUB1):c.670-15G>T	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1895542	NM_005861.4(STUB1):c.543G>A (p.Gln181=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1879318	NM_005861.4(STUB1):c.844C>G (p.Pro282Ala)	JMJD8, STUB1 (P210A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1806626	NM_005861.4(STUB1):c.848A>T (p.Asn283Ile)	STUB1, JMJD8 (N211I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1723795	NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)	STUB1, JMJD8 (E107K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1721903	NM_005861.4(STUB1):c.591G>C (p.Gln197His)	JMJD8, STUB1 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1710839	NM_005861.4(STUB1):c.613-67G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1707113	NM_005861.4(STUB1):c.612+53G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1698848	NM_005861.4(STUB1):c.525-1G>A	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1698117	NM_005861.4(STUB1):c.853G>A (p.Ala285Thr)	JMJD8, STUB1 (A213T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1683911	NM_005861.4(STUB1):c.829C>T (p.Gln277Ter)	JMJD8, STUB1 (Q205* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1679956	NM_005861.4(STUB1):c.778dup (p.His260fs)	JMJD8, STUB1 (H188fs +1 more)	Duplication (frameshift variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1679377	NM_005861.4(STUB1):c.612+4_612+46del	JMJD8, STUB1	Deletion (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1678576	NM_005861.4(STUB1):c.746G>T (p.Gly249Val)	JMJD8, STUB1 (G177V +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 1526327	NM_005861.4(STUB1):c.*94C>T	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1335192	NM_005861.4(STUB1):c.860AGG[1] (p.Glu288del)	JMJD8, STUB1 (E216del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 1333941	NM_005861.4(STUB1):c.807dup (p.Val270fs)	JMJD8, STUB1 (V198fs +1 more)	Duplication (frameshift variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1320727	NM_005861.4(STUB1):c.760C>T (p.Arg254Cys)	JMJD8, STUB1 (R182C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1303591	NM_005861.4(STUB1):c.736A>C (p.Thr246Pro)	JMJD8, STUB1 (T174P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1301244	NM_005861.4(STUB1):c.544C>T (p.Arg182Ter)	JMJD8, STUB1 (R110* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1236838	NM_005861.4(STUB1):c.525-22C>T	STUB1, JMJD8	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1222578	NM_005861.4(STUB1):c.525-68T>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1185469	NM_005861.4(STUB1):c.786+8del	JMJD8, STUB1	Deletion (intron variant +2 more)	Spinocerebellar ataxia 48 +2 more	GBenign
Select item 1184458	NM_005861.4(STUB1):c.779A>C (p.His260Pro)	JMJD8, STUB1 (H188P +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 1028430	NM_005861.4(STUB1):c.612+11C>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1027455	NM_005861.4(STUB1):c.791_792del (p.Val264fs)	JMJD8, STUB1 (V192fs +1 more)	Microsatellite (frameshift variant +2 more)	Spinocerebellar ataxia 48	GPathogenic

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