"GeneDx"[submitter] AND "APTX"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366583	NM_001195248.2(APTX):c.*806G>A	APTX	Single nucleotide variant (3 prime UTR variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +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 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 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 (non-coding transcript variant +1 more)	not provided +1 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 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 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)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign
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 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 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 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 214123	NM_001195248.2(APTX):c.771-12dup	APTX	Duplication (intron variant)	not specified +4 more	GBenign
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 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 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 366591	NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)	APTX (R247Q +3 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GUncertain significance
Select item 214121	NM_001195248.2(APTX):c.734G>A (p.Arg245His)	APTX (R245H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3364364	NM_001195248.2(APTX):c.707T>C (p.Val236Ala)	APTX (V148A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214128	NM_001195248.2(APTX):c.667C>T (p.Leu223Phe)	APTX (L223F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 1302141	NM_001195248.2(APTX):c.595C>T (p.Arg199Cys)	APTX (R111C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 515638	NM_001195248.2(APTX):c.585C>T (p.Tyr195=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 870837	NM_001195248.2(APTX):c.559C>T (p.Gln187Ter)	APTX (Q133* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 559301	NM_001195248.2(APTX):c.548A>G (p.Tyr183Cys)	APTX (Y183C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 380274	NM_001195248.2(APTX):c.544-4C>T	APTX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1181818	NM_001195248.2(APTX):c.544-22T>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268647	NM_001195248.2(APTX):c.543+30A>C	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205221	NM_001195248.2(APTX):c.543+26G>C	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 218539	NM_001195248.2(APTX):c.484-3del	APTX	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 198285	NM_001195248.2(APTX):c.484-25_484-5del	APTX	Deletion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 1320642	NM_001195248.2(APTX):c.484-25_484-9del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 366592	NM_001195248.2(APTX):c.484-12_484-11insG	APTX	Insertion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GBenign/Likely benign
Select item 420544	NM_001195248.2(APTX):c.484-13_484-12delinsTG	APTX	Indel (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 366593	NM_001195248.2(APTX):c.484-12T>G	APTX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136415	NM_001195248.2(APTX):c.484-13G>T	APTX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1195857	NM_001195248.2(APTX):c.484-29T>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185746	NM_001195248.2(APTX):c.484-30T>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204711	NM_001195248.2(APTX):c.484-32T>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189898	NM_001195248.2(APTX):c.484-90A>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292933	NM_001195248.2(APTX):c.484-220A>G	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189301	NM_001195248.2(APTX):c.483+256C>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273776	NM_001195248.2(APTX):c.483+247A>G	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187112	NM_001195248.2(APTX):c.483+232T>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290675	NM_001195248.2(APTX):c.483+91C>T	APTX	Single nucleotide variant (intron variant)	not provided +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 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 509191	NM_001195248.2(APTX):c.429C>T (p.Asn143=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 214119	NM_001195248.2(APTX):c.337A>G (p.Arg113Gly)	APTX (R113G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely 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 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 1268721	NM_001195248.2(APTX):c.134-58G>A	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214150	NM_001195248.2(APTX):c.134-214G>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194561	NM_001195248.2(APTX):c.133+209G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 214126	NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	APTX (W6C)	Single nucleotide variant (missense variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +4 more	GConflicting classifications of pathogenicity
Select item 1303760	NM_001195248.2(APTX):c.14G>A (p.Cys5Tyr)	APTX (C5Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 430495	NM_001195248.2(APTX):c.4A>T (p.Met2Leu)	APTX (M2L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1220076	NM_001195248.2(APTX):c.-4-108C>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225499	NM_001195248.2(APTX):c.-4-239A>G	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207509	NM_001195248.2(APTX):c.-4-285AAAT[4]	APTX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1264157	NM_001195248.2(APTX):c.-4-317G>A	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228498	NM_001195248.2(APTX):c.-5+4415A>T	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385806	NM_001195248.2(APTX):c.-5+4332C>A	APTX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 517042	NM_001195248.2(APTX):c.-5+4328C>T	APTX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214124	NM_001195248.2(APTX):c.-5+4314A>T	APTX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1237211	NM_001195248.2(APTX):c.-5+4305C>G	APTX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 511014	NM_001195248.2(APTX):c.-5+4231dup	APTX	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1281201	NM_001195248.2(APTX):c.-5+4198_-5+4199insTC	APTX	Insertion (intron variant)	not provided	GBenign
Select item 1291585	NM_001195248.2(APTX):c.-5+4188C>T	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222585	NM_001195248.2(APTX):c.-5+124C>T	APTX	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1294326	NM_001195248.2(APTX):c.-5+117C>G	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 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 506823	NM_001195248.2(APTX):c.-5+10T>C	APTX	Single nucleotide variant (intron variant +2 more)	not specified	GLikely benign
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 391426	NM_001195248.2(APTX):c.-55C>T	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 514594	NM_175073.2(APTX):c.-194C>T	APTX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214125	NM_175073.2(APTX):c.-194C>G	APTX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222888	NM_001368995.1(APTX):c.-4-11772C>T	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241365	NM_001368995.1(APTX):c.-4-11820G>C	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241302	NM_001368995.1(APTX):c.-4-11846G>A	APTX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 99