"GeneDx"[submitter] AND "MUC15"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 3367567	NM_031418.4(ANO3):c.1399T>A (p.Phe467Ile)	ANO3, MUC15 (F321I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3252972	NM_031418.4(ANO3):c.1415_1423dup (p.Phe474_Phe475insSerValPhe)	ANO3, MUC15	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3378176	NM_031418.4(ANO3):c.1434T>A (p.Phe478Leu)	ANO3, MUC15 (F332L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1228643	NM_031418.4(ANO3):c.1447+57AC[21]	ANO3, MUC15	Microsatellite (intron variant +1 more)	not provided +1 more	GBenign
Select item 1195324	NM_031418.4(ANO3):c.1447+57AC[22]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1243722	NM_031418.4(ANO3):c.1447+57AC[18]	ANO3, MUC15	Microsatellite (intron variant +1 more)	Dystonia 24 +1 more	GBenign
Select item 1240657	NM_031418.4(ANO3):c.1447+57AC[17]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1238462	NM_031418.4(ANO3):c.1447+57AC[19]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1235324	NM_031418.4(ANO3):c.1447+57AC[16]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1253720	NM_031418.4(ANO3):c.1447+73_1447+74insTA	ANO3, MUC15	Insertion (intron variant +1 more)	not provided	GBenign
Select item 1235887	NM_031418.4(ANO3):c.1447+198C>T	ANO3, MUC15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign