ISCA1[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 23