"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712405	NM_016341.4(PLCE1):c.-10T>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 260716	NM_016341.4(PLCE1):c.227C>T (p.Ala76Val)	PLCE1 (A76V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260723	NM_016341.4(PLCE1):c.513G>A (p.Val171=)	PLCE1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1712347	NM_016341.4(PLCE1):c.826G>T (p.Val276Leu)	PLCE1 (V276L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 260711	NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)	PLCE1 (S469T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260712	NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu)	PLCE1 (R548L +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260713	NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr)	PLCE1 (A577T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1712350	NM_016341.4(PLCE1):c.1984T>C (p.Phe662Leu)	PLCE1 (F354L +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 260715	NM_016341.4(PLCE1):c.2124G>A (p.Val708=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 301702	NM_016341.4(PLCE1):c.2214+7C>T	PLCE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301704	NM_016341.4(PLCE1):c.2352C>T (p.Asp784=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 769371	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)	PLCE1 (S1000N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260717	NM_016341.4(PLCE1):c.3132C>T (p.His1044=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1712480	NM_016341.4(PLCE1):c.3492G>A (p.Thr1164=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 301715	NM_016341.4(PLCE1):c.3579C>T (p.His1193=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 1210225	NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser)	PLCE1 (G1183S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1712375	NM_016341.4(PLCE1):c.3815-8T>C	PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260718	NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
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)	Kidney disorder +2 more	GBenign/Likely benign
Select item 260724	NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile)	PLCE1 (T1777I +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 1712422	NM_016341.4(PLCE1):c.5625T>G (p.Ile1875Met)	PLCE1 (I1567M +2 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 260726	NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu)	PLCE1 (P1890L +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GConflicting classifications of pathogenicity
Select item 260728	NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg)	PLCE1 (H1927R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 301737	NM_016341.4(PLCE1):c.*166G>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +2 more	GBenign

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Items: 25