"GeneDx"[submitter] AND "MCIDAS"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 1222048	NM_001190787.3(MCIDAS):c.*136T>A	MCIDAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287962	NM_001190787.3(MCIDAS):c.*8T>C	MCIDAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 961021	NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val)	MCIDAS (A362V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 403074	NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=)	MCIDAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1273984	NM_001190787.3(MCIDAS):c.717+92G>C	LOC129993891, MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251151	NM_001190787.3(MCIDAS):c.607-157dup	MCIDAS	Duplication (intron variant)	not provided	GBenign
Select item 1282578	NM_001190787.3(MCIDAS):c.606+169G>C	MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264852	NM_001190787.3(MCIDAS):c.382+119C>T	LOC123493307, MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244042	NM_001190787.3(MCIDAS):c.382+92A>G	MCIDAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289313	NC_000005.10:g.55227577C>G	MCIDAS	Single nucleotide variant	not provided	GBenign
Select item 1267993	NC_000005.10:g.55227592A>G	MCIDAS	Single nucleotide variant	not provided	GBenign