"Illumina Laboratory Services, Illumina"[submitter] AND "PLCE1-AS1"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501892	NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln)	PLCE1, PLCE1-AS1 (R1575Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 260720	NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro)	PLCE1, PLCE1-AS1 (R1575P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 768379	NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser)	PLCE1, PLCE1-AS1 (N1270S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 301723	NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile)	PLCE1, PLCE1-AS1 (N1578I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301724	NM_016341.4(PLCE1):c.4810G>T (p.Asp1604Tyr)	PLCE1, PLCE1-AS1 (D1604Y +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301725	NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn)	PLCE1, PLCE1-AS1 (D1642N +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 290123	NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)	PLCE1, PLCE1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879396	NM_016341.4(PLCE1):c.5035+6A>G	PLCE1, PLCE1-AS1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 260722	NM_016341.4(PLCE1):c.5035+12C>A	PLCE1, PLCE1-AS1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign