"GeneDx"[submitter] AND "NOC3L"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1706910	NM_016341.4(PLCE1):c.6133-54G>T	PLCE1, NOC3L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506762	NM_016341.4(PLCE1):c.6317G>A (p.Arg2106Lys)	NOC3L, PLCE1 (R1798K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260729	NM_016341.4(PLCE1):c.6324C>G (p.Val2108=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 260730	NM_016341.4(PLCE1):c.6342+13G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 1212312	NM_016341.4(PLCE1):c.6342+69C>T	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289466	NM_016341.4(PLCE1):c.6343-255dup	NOC3L, PLCE1	Duplication (intron variant)	not provided	GBenign
Select item 1281283	NM_016341.4(PLCE1):c.6343-255del	NOC3L, PLCE1	Deletion (intron variant)	not provided	GBenign
Select item 1280371	NM_016341.4(PLCE1):c.6343-201T>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259281	NM_016341.4(PLCE1):c.6502-186G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426425	NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg)	NOC3L, PLCE1 (K2173R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1289114	NM_016341.4(PLCE1):c.6720+31T>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254109	NM_016341.4(PLCE1):c.6720+49dup	NOC3L, PLCE1	Duplication (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 1231076	NM_016341.4(PLCE1):c.6721-64G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253686	NM_016341.4(PLCE1):c.6721-53C>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1071041	NM_016341.4(PLCE1):c.6742_6745del (p.Lys2248fs)	NOC3L, PLCE1 (K1940fs +2 more)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1203717	NM_016341.4(PLCE1):c.*24+181T>C	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign