ClinVar for MedGen (Select 395301) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065435	NM_001195248.2(APTX):c.484-1G>C	APTX	Single nucleotide variant (splice acceptor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
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 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 1706448	NM_001195248.2(APTX):c.638del (p.Leu213fs)	APTX (L125fs +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 (non-coding transcript variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GUncertain significance
Select item 1334465	NM_001195248.2(APTX):c.587dup (p.Ala198fs)	APTX (A110fs +3 more)	Duplication (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1333290	NM_001195248.2(APTX):c.388C>T (p.Gln130Ter)	APTX (Q130* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323370	NM_001195248.2(APTX):c.596del (p.Arg199fs)	APTX (R111fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1192330	NM_001195248.2(APTX):c.-5+116G>T	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign
Select item 1192329	NM_001195248.2(APTX):c.874+84G>A	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign
Select item 1165062	NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)	APTX (K153E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1027441	NM_001195248.2(APTX):c.544-1G>C	APTX	Single nucleotide variant (splice acceptor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 994780	NM_001195248.2(APTX):c.593C>T (p.Ala198Val)	APTX (A110V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 977928	NM_015046.7(SETX):c.7154T>G (p.Val2385Gly)	SETX (V2385G)	Single nucleotide variant (missense variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 977926	NM_015046.7(SETX):c.1856_1863del (p.Ser618_Tyr619insTer)	SETX	Deletion (nonsense)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 930027	NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)	APTX (R16*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 915132	NM_001195248.2(APTX):c.*141G>A	APTX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely 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 913930	NM_175073.2(APTX):c.-187C>T	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 913929	NM_001195248.2(APTX):c.-5+4337A>G	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 913928	NM_001195248.2(APTX):c.3G>A (p.Met1Ile)	APTX (M1I)	Single nucleotide variant (missense variant +3 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 913927	NM_001195248.2(APTX):c.38G>A (p.Arg13Gln)	APTX (R13Q)	Single nucleotide variant (missense variant +2 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 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 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 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 913546	NM_001195248.2(APTX):c.496C>T (p.His166Tyr)	APTX (H166Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 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 810366	NM_001195248.2(APTX):c.-5+1G>T	APTX	Single nucleotide variant (5 prime UTR variant +3 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GConflicting classifications of pathogenicity
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 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 634641	NM_001195248.2(APTX):c.484-1G>T	APTX	Single nucleotide variant (splice acceptor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 559304	NM_001195248.2(APTX):c.484-25_484-6del	APTX	Deletion (intron variant)	not provided +1 more	GBenign
Select item 518398	NM_001195248.2(APTX):c.484-25_484-4del	APTX	Deletion (intron variant)	not specified +2 more	GBenign
Select item 516304	NM_001195248.2(APTX):c.618G>T (p.Pro206=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 516296	NM_001195248.2(APTX):c.-45C>G	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 448306	NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)	SETX (C5del)	Microsatellite (inframe_deletion)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GUncertain significance
Select item 446858	NM_001195248.2(APTX):c.770+10G>T	APTX	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446857	NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG	APTX	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 434253	NM_001195248.2(APTX):c.875-2A>G	APTX	Single nucleotide variant (3 prime UTR variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic/Likely pathogenic
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 420789	NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)	APTX (R42*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 420544	NM_001195248.2(APTX):c.484-13_484-12delinsTG	APTX	Indel (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 380274	NM_001195248.2(APTX):c.544-4C>T	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GConflicting classifications of pathogenicity
Select item 366597	NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)	APTX (I27T)	Single nucleotide variant (missense variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GUncertain significance
Select item 366596	NM_001195248.2(APTX):c.134-12A>C	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +3 more	GConflicting classifications of pathogenicity
Select item 366595	NM_001195248.2(APTX):c.183A>G (p.Val61=)	APTX	Single nucleotide variant (synonymous variant +3 more)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more	GUncertain significance
Select item 366594	NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)	APTX (E125D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 366593	NM_001195248.2(APTX):c.484-12T>G	APTX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 366591	NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)	APTX (R247Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 366590	NM_001195248.2(APTX):c.742T>C (p.Leu248=)	APTX	Single nucleotide variant (synonymous variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GUncertain significance
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 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 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 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 366585	NM_001195248.2(APTX):c.*605G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	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 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 366580	NM_001195248.2(APTX):c.*858C>G	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GUncertain significance
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 262911	NM_001195248.2(APTX):c.513G>A (p.Leu171=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214126	NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	APTX (W6C)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
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 214122	NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	APTX (L248M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214120	NM_001195248.2(APTX):c.596G>A (p.Arg199His)	APTX (R199H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 198285	NM_001195248.2(APTX):c.484-25_484-5del	APTX	Deletion (intron variant)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +4 more	GBenign/Likely benign
Select item 159788	NM_007254.4(PNKP):c.1295_1298+6del	PNKP	Deletion (splice donor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +4 more	GPathogenic/Likely pathogenic
Select item 136417	NM_001195248.2(APTX):c.-5+16G>T	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 136416	NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	APTX (Q324L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136415	NM_001195248.2(APTX):c.484-13G>T	APTX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 136414	NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)	APTX (S144Y +2 more)	Single nucleotide variant (missense variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GBenign/Likely benign
Select item 136413	NM_001195248.2(APTX):c.318C>T (p.Asn106=)	APTX	Single nucleotide variant (synonymous variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GBenign
Select item 4433	NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)	APTX (L223P +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 4432	NC_000009.12:g.(?_32973498)_(33001604_?)del	APTX	Deletion	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)	Inborn genetic diseases +2 more	GPathogenic
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 4429	NM_001195248.2(APTX):c.602A>G (p.His201Arg)	APTX (H201R +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	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 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 4426	NM_001195248.2(APTX):c.617C>T (p.Pro206Leu)	APTX (P206L +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 4425	NM_001195248.2(APTX):c.689dup (p.Glu232fs)	APTX (E160fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic

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Items: 84