54840[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
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 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)	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 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)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +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 specified +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.771-12dup	APTX	Duplication (intron variant)	Coenzyme Q10 deficiency, Oculomotor Apraxia Type +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

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