"GeneDx"[submitter] AND "ISCA2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 1178790	NC_000014.9:g.74493664T>C	ISCA2	Single nucleotide variant	not provided	GBenign
Select item 380555	NM_194279.3(ISCA2):c.-36C>A	ISCA2	Single nucleotide variant	not specified	GBenign
Select item 390696	NM_194279.3(ISCA2):c.-34G>A	ISCA2	Single nucleotide variant	not specified	GLikely benign
Select item 384212	NM_194279.3(ISCA2):c.-20G>A	ISCA2	Single nucleotide variant	not specified	GLikely benign
Select item 386276	NM_194279.4(ISCA2):c.-6A>C	ISCA2, LOC130056095	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3376048	NC_000014.9:g.74493800T>A	ISCA2, LOC130056095 +1 more (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188021	NM_194279.4(ISCA2):c.71+31G>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202365	NM_194279.4(ISCA2):c.75C>T (p.Leu25=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597114	NM_194279.4(ISCA2):c.83C>T (p.Ala28Val)	ISCA2 (A28V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3367522	NM_194279.4(ISCA2):c.86C>T (p.Ser29Phe)	ISCA2 (S29F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375630	NM_194279.4(ISCA2):c.104G>T (p.Arg35Leu)	ISCA2 (R35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215027	NM_194279.4(ISCA2):c.116C>A (p.Ser39Ter)	ISCA2 (S39*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 386507	NM_194279.4(ISCA2):c.130G>C (p.Glu44Gln)	ISCA2 (E44Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 516403	NM_194279.4(ISCA2):c.175-14T>C	ISCA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 183353	NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	ISCA2 (G77S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1702668	NM_194279.4(ISCA2):c.254A>G (p.Lys85Arg)	ISCA2 (K85R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3376047	NM_194279.4(ISCA2):c.257T>A (p.Phe86Tyr)	ISCA2 (F86Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380561	NM_194279.4(ISCA2):c.290+10A>C	ISCA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 680619	NM_194279.4(ISCA2):c.291-177C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 545531	NM_194279.4(ISCA2):c.297del (p.Phe99fs)	ISCA2 (F99fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 514788	NM_194279.4(ISCA2):c.300A>G (p.Glu100=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 511287	NM_194279.4(ISCA2):c.429C>G (p.Gly143=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1214846	NM_194279.4(ISCA2):c.*304C>T	ISCA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 24