APTX[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366580	NM_001195248.2(APTX):c.*858C>G	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 366581	NM_001195248.2(APTX):c.851_852del	APTX	Deletion (3 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 366582	NM_001195248.2(APTX):c.*834C>G	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 366583	NM_001195248.2(APTX):c.*806G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913503	NM_001195248.2(APTX):c.*756G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 913504	NM_001195248.2(APTX):c.*636C>T	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 913881	NM_001195248.2(APTX):c.*610G>C	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 366584	NM_001195248.2(APTX):c.*606G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366585	NM_001195248.2(APTX):c.*605G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 913882	NM_001195248.2(APTX):c.*476C>T	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 366586	NM_001195248.2(APTX):c.*454G>C	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more	GBenign/Likely benign
Select item 366587	NM_001195248.2(APTX):c.*363C>T	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more	GUncertain significance
Select item 913883	NM_001195248.2(APTX):c.*310G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 913884	NM_001195248.2(APTX):c.*293C>G	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely benign
Select item 915131	NM_001195248.2(APTX):c.*215G>C	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 366588	NM_001195248.2(APTX):c.*187G>C	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +2 more	GConflicting classifications of pathogenicity
Select item 915132	NM_001195248.2(APTX):c.*141G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign/Likely benign
Select item 4432	NC_000009.12:g.(?_32973498)_(33001604_?)del	APTX	Deletion	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 2097287	NM_001195248.2(APTX):c.1008C>T (p.Leu336=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 994778	NM_001195248.2(APTX):c.1003C>T (p.His335Tyr)	APTX (H247Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 290957	NM_001195248.2(APTX):c.989C>A (p.Pro330His)	APTX (P330H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 136416	NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	APTX (Q324L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1949179	NM_001195248.2(APTX):c.960T>C (p.His320=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1356291	NM_001195248.2(APTX):c.959A>T (p.His320Leu)	APTX (H232L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 870836	NM_001195248.2(APTX):c.940_956del (p.Lys314fs)	APTX (K242fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 286950	NM_001195248.2(APTX):c.953G>A (p.Arg318His)	APTX (R318H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3128101	NM_001195248.2(APTX):c.952C>T (p.Arg318Cys)	APTX (R246C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128100	NM_001195248.2(APTX):c.949C>T (p.Leu317Phe)	APTX (L245F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1653665	NM_001195248.2(APTX):c.948C>T (p.Pro316=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1701566	NM_001195248.2(APTX):c.946C>T (p.Pro316Ser)	APTX (P228S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2230719	NM_001195248.2(APTX):c.944T>C (p.Leu315Pro)	APTX (L141P +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2663301	NM_001195248.2(APTX):c.935_941delinsAAG (p.Leu312fs)	APTX (L224fs +3 more)	Indel (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1557657	NM_001195248.2(APTX):c.915C>G (p.Val305=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1427618	NM_001195248.2(APTX):c.907G>A (p.Val303Ile)	APTX (V303I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1997746	NM_001195248.2(APTX):c.902G>T (p.Gly301Val)	APTX (G127V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1986568	NM_001195248.2(APTX):c.900T>A (p.Ala300=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1676122	NM_001195248.2(APTX):c.899C>T (p.Ala300Val)	APTX (A212V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4430	NM_001195248.2(APTX):c.875-1G>A	APTX	Single nucleotide variant (3 prime UTR variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 434253	NM_001195248.2(APTX):c.875-2A>G	APTX	Single nucleotide variant (splice acceptor variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 810365	NM_001195248.2(APTX):c.875-3C>T	APTX	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1182579	NM_001195248.2(APTX):c.875-77dup	APTX	Duplication (intron variant)	not provided	GLikely benign
Select item 1232812	NM_001195248.2(APTX):c.875-60del	APTX	Deletion (intron variant)	not provided	GBenign
Select item 1177747	NM_001195248.2(APTX):c.875-61_875-60del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 1235928	NM_001195248.2(APTX):c.875-127G>A	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193937	NM_001195248.2(APTX):c.875-208G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192329	NM_001195248.2(APTX):c.874+84G>A	APTX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1918357	NM_001195248.2(APTX):c.874+17G>C	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 366589	NM_001195248.2(APTX):c.874+14C>G	APTX	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more	GUncertain significance
Select item 446859	NM_001195248.2(APTX):c.874+10G>A	APTX	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1395461	NM_001195248.2(APTX):c.874+6_874+7del	APTX	Deletion (intron variant)	not provided	GUncertain significance
Select item 3065181	NM_001195248.2(APTX):c.874G>A (p.Ala292Thr)	APTX (A118T +6 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 1807151	NM_001195248.2(APTX):c.873A>G (p.Gln291=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 915133	NM_001195248.2(APTX):c.854A>G (p.Glu285Gly)	APTX (E197G +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 915134	NM_001195248.2(APTX):c.853G>A (p.Glu285Lys)	APTX (E231K +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 4427	NM_001195248.2(APTX):c.841del (p.Ser281fs)	APTX (S209fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 4431	NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)	APTX (W279* +3 more)	Single nucleotide variant (nonsense +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GPathogenic
Select item 430092	NM_001195248.2(APTX):c.835T>C (p.Trp279Arg)	APTX (W279R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1573335	NM_001195248.2(APTX):c.834T>C (p.His278=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214127	NM_001195248.2(APTX):c.814T>C (p.Cys272Arg)	APTX (C272R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303247	NM_001195248.2(APTX):c.809C>T (p.Ser270Phe)	APTX (S182F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2804720	NM_001195248.2(APTX):c.796C>T (p.Gln266Ter)	APTX (Q212* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 4428	NM_001195248.2(APTX):c.788T>G (p.Val263Gly)	APTX (V263G +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1256343	NM_001195248.2(APTX):c.779A>G (p.His260Arg)	APTX (H172R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2198234	NM_001195248.2(APTX):c.777A>C (p.Val259=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 635168	NM_001195248.2(APTX):c.776del (p.Val259fs)	APTX (V187fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1477210	NM_001195248.2(APTX):c.773A>G (p.His258Arg)	APTX (H186R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 749087	NM_001195248.2(APTX):c.771-5A>G	APTX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235248	NM_001195248.2(APTX):c.771-13_771-12dup	APTX	Duplication (intron variant)	not provided	GBenign
Select item 214123	NM_001195248.2(APTX):c.771-20dup	APTX	Duplication (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign
Select item 1650542	NM_001195248.2(APTX):c.771-14_771-12del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 1203084	NM_001195248.2(APTX):c.771-105A>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199100	NM_001195248.2(APTX):c.771-119A>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211775	NM_001195248.2(APTX):c.771-283G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243795	NM_001195248.2(APTX):c.771-326G>A	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196798	NM_001195248.2(APTX):c.771-339dup	APTX	Duplication (intron variant)	not provided	GLikely benign
Select item 1257204	NM_001195248.2(APTX):c.770+238T>C	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215113	NM_001195248.2(APTX):c.770+47G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446858	NM_001195248.2(APTX):c.770+10G>T	APTX	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 795168	NM_001195248.2(APTX):c.770+9G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 796939	NM_001195248.2(APTX):c.770+7C>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 281340	NM_001195248.2(APTX):c.762G>A (p.Pro254=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2242001	NM_001195248.2(APTX):c.761C>T (p.Pro254Leu)	APTX (P182L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1903185	NM_001195248.2(APTX):c.753C>T (p.His251=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 366590	NM_001195248.2(APTX):c.742T>C (p.Leu248=)	APTX	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 214122	NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	APTX (L248M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 366591	NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)	APTX (R247Q +3 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GUncertain significance
Select item 2571331	NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)	APTX (R159* +4 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy +1 more	GPathogenic
Select item 214121	NM_001195248.2(APTX):c.734G>A (p.Arg245His)	APTX (R245H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2501668	NM_001195248.2(APTX):c.729del (p.Lys243fs)	APTX (K155fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 2136752	NM_001195248.2(APTX):c.725G>A (p.Ser242Asn)	APTX (S242N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2610333	NM_001195248.2(APTX):c.724A>G (p.Ser242Gly)	APTX (S188G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025174	NM_001195248.2(APTX):c.720G>A (p.Gly240=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1807152	NM_001195248.2(APTX):c.719G>T (p.Gly240Val)	APTX (G152V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804536	NM_001195248.2(APTX):c.710A>G (p.Asp237Gly)	APTX (D149G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426093	NM_001195248.2(APTX):c.697A>T (p.Lys233Ter)	APTX (K233* +3 more)	Single nucleotide variant (nonsense +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1459533	NM_001195248.2(APTX):c.694G>T (p.Glu232Ter)	APTX (E160* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2419334	NM_001195248.2(APTX):c.690G>A (p.Val230=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 4425	NM_001195248.2(APTX):c.689dup (p.Glu232fs)	APTX (E160fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 804535	NM_001195248.2(APTX):c.686del (p.Thr229fs)	APTX (T229fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2309594	NM_001195248.2(APTX):c.680T>C (p.Met227Thr)	APTX (M227T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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