"GeneDx"[submitter] AND "EMP2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 1266482	NM_001424.6(EMP2):c.*172G>C	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1243513	NM_001424.6(EMP2):c.*164del	EMP2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1229140	NM_001424.6(EMP2):c.147_152dup	EMP2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1706774	NM_001424.6(EMP2):c.142_145A[4]GAAAA[1]	EMP2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1237080	NM_001424.6(EMP2):c.141_142insG	EMP2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1287362	NM_001424.6(EMP2):c.*141A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1328635	NM_001424.6(EMP2):c.*140A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1704905	NM_001424.6(EMP2):c.*137A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1191904	NM_001424.6(EMP2):c.*132A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1264243	NM_001424.6(EMP2):c.*131A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1201301	NM_001424.6(EMP2):c.*98G>A	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1312429	NM_001424.6(EMP2):c.497G>A (p.Arg166His)	EMP2 (R166H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1201554	NM_001424.6(EMP2):c.402C>T (p.Thr134=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1258771	NM_001424.6(EMP2):c.317-136T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188330	NM_001424.6(EMP2):c.316+248G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248762	NM_001424.6(EMP2):c.316+148TG[11]	EMP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1206497	NM_001424.6(EMP2):c.316+148TG[12]	EMP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 450012	NM_001424.6(EMP2):c.207C>G (p.Ile69Met)	EMP2 (I69M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230583	NM_001424.6(EMP2):c.189G>A (p.Ala63=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 258093	NM_001424.6(EMP2):c.170-14C>T	EMP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1253217	NM_001424.6(EMP2):c.170-54A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217452	NM_001424.6(EMP2):c.170-126G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214088	NM_001424.6(EMP2):c.170-131T>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225271	NM_001424.6(EMP2):c.170-151G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280605	NM_001424.6(EMP2):c.170-198A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268923	NM_001424.6(EMP2):c.170-234G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239902	NM_001424.6(EMP2):c.170-282G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224057	NM_001424.6(EMP2):c.169+9G>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220016	NM_001424.6(EMP2):c.151A>G (p.Ile51Val)	EMP2 (I51V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1246326	NM_001424.6(EMP2):c.79-91T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272750	NM_001424.6(EMP2):c.79-144C>T	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222762	NM_001424.6(EMP2):c.79-173C>T	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237768	NM_001424.6(EMP2):c.78+50A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328659	NM_001424.6(EMP2):c.-6G>T	EMP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1251512	NM_001424.6(EMP2):c.-60-172T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 36