PLCE1-AS2[gene] - ClinVar - NCBI

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Items: 10

	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 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 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 1209162	NM_016341.4(PLCE1):c.1207-43184T>G	PLCE1, PLCE1-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048991	NM_016341.4(PLCE1):c.1207-43089G>A	PLCE1, PLCE1-AS2	Single nucleotide variant (5 prime UTR variant +1 more)	PLCE1-related disorder	GBenign
Select item 1805312	NM_016341.4(PLCE1):c.1207-43031G>A	PLCE1-AS2, PLCE1 (E17K)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 3	GUncertain significance
Select item 3042887	NM_016341.4(PLCE1):c.1207-43013G>T	PLCE1, PLCE1-AS2 (V23L)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GUncertain significance
Select item 3039397	NM_016341.4(PLCE1):c.1207-43013G>A	PLCE1, PLCE1-AS2 (V23M)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GLikely benign
Select item 3043575	NM_016341.4(PLCE1):c.1207-42904C>T	PLCE1, PLCE1-AS2 (T59M)	Single nucleotide variant (missense variant +1 more)	PLCE1-related disorder	GLikely benign
Select item 1182170	NM_016341.4(PLCE1):c.1207-42834G>A	PLCE1, PLCE1-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign