ISCA1[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150247	GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	AGTPBP1, C9orf153 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 1169189	NM_030940.4(ISCA1):c.348C>T (p.Asn116=)	ISCA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1555705	NM_030940.4(ISCA1):c.333G>A (p.Val111=)	ISCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959344	NM_030940.4(ISCA1):c.317T>C (p.Leu106Ser)	ISCA1 (L106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375415	NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)	ISCA1 (E87K)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 5	GConflicting classifications of pathogenicity
Select item 2003422	NM_030940.4(ISCA1):c.249A>T (p.Arg83Ser)	ISCA1 (R83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163088	NM_030940.4(ISCA1):c.248G>A (p.Arg83Lys)	ISCA1 (R83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958172	NM_030940.4(ISCA1):c.242-13del	ISCA1	Deletion (intron variant)	not provided	GBenign
Select item 1901048	NM_030940.4(ISCA1):c.242-19_242-18del	ISCA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1262965	NM_030940.4(ISCA1):c.241+92G>A	ISCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658125	NM_030940.4(ISCA1):c.241+13_241+18del	ISCA1	Deletion (intron variant)	not provided	GLikely benign
Select item 2044256	NM_030940.4(ISCA1):c.206C>T (p.Thr69Ile)	ISCA1 (T69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379074	NM_030940.4(ISCA1):c.203A>C (p.Lys68Thr)	ISCA1 (K68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953278	NM_030940.4(ISCA1):c.176G>A (p.Gly59Asp)	ISCA1 (G59D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022510	NM_030940.4(ISCA1):c.135+17_135+18del	ISCA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1715955	NM_030940.4(ISCA1):c.91G>A (p.Ala31Thr)	ISCA1 (A31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965633	NM_030940.4(ISCA1):c.82-10C>T	ISCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989986	NM_030940.4(ISCA1):c.82-16C>G	ISCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981776	NM_030940.4(ISCA1):c.82-18A>T	ISCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978336	NM_030940.4(ISCA1):c.81+11G>A	ISCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694595	NM_030940.4(ISCA1):c.81+10C>T	ISCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047585	NM_030940.4(ISCA1):c.81+3G>A	ISCA1	Single nucleotide variant (intron variant)	ISCA1-related disorder	GLikely benign
Select item 2177723	NM_030940.4(ISCA1):c.79C>T (p.Leu27=)	ISCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503898	NM_030940.4(ISCA1):c.77C>A (p.Thr26Asn)	ISCA1 (T26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053661	NM_030940.4(ISCA1):c.63C>G (p.Thr21=)	ISCA1, LOC130001967	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995757	NM_030940.4(ISCA1):c.62C>T (p.Thr21Ile)	ISCA1, LOC130001967 (T21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622913	NM_030940.4(ISCA1):c.48G>A (p.Arg16=)	ISCA1, LOC130001967	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227058	NM_030940.4(ISCA1):c.37G>A (p.Val13Met)	ISCA1, LOC130001967 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1900510	NM_030940.4(ISCA1):c.30C>T (p.Val10=)	ISCA1, LOC130001967	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695121	NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)	ISCA1, LOC130001967 (V10G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 5	GPathogenic
Select item 1920813	NM_030940.4(ISCA1):c.27T>C (p.Thr9=)	ISCA1, LOC130001967	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110991	NM_030940.4(ISCA1):c.22G>T (p.Ala8Ser)	ISCA1, LOC130001967 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585244	NM_030940.4(ISCA1):c.20G>C (p.Arg7Pro)	ISCA1, LOC130001967 (R7P)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 5	GUncertain significance
Select item 1641506	NM_030940.4(ISCA1):c.18C>A (p.Val6=)	ISCA1, LOC130001967	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695254	NM_030940.4(ISCA1):c.-2A>C	ISCA1, LOC130001967	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 815265	GRCh37/hg19 9q21.33(chr9:88622823-88951838)x3	C9orf153, ISCA1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 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: 63