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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712394	NM_004621.6(TRPC6):c.2668G>C (p.Asp890His)	TRPC6 (D890H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712370	NM_004621.6(TRPC6):c.2488G>A (p.Gly830Arg)	TRPC6 (G830R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712371	NM_004621.6(TRPC6):c.2408A>G (p.Lys803Arg)	TRPC6 (K803R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712369	NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)	TRPC6 (W783fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 236162	NM_004621.6(TRPC6):c.2142G>T (p.Thr714=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 259458	NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 301902	NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1712475	NM_004621.6(TRPC6):c.1645T>A (p.Trp549Arg)	TRPC6 (W549R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 259454	NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val)	TRPC6 (A404V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 1712372	NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln)	TRPC6 (R399Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1712378	NM_004621.6(TRPC6):c.1156C>T (p.Gln386Ter)	TRPC6 (Q386*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1673701	NM_004621.6(TRPC6):c.996C>T (p.Leu332=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign/Likely benign
Select item 725323	NM_004621.6(TRPC6):c.837C>T (p.Gly279=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GBenign/Likely benign
Select item 1712382	NM_004621.6(TRPC6):c.376G>T (p.Val126Phe)	TRPC6 (V126F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712421	NM_004621.6(TRPC6):c.258C>T (p.Tyr86=)	TRPC6	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712419	NM_004621.6(TRPC6):c.76A>T (p.Asn26Tyr)	TRPC6 (N26Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 301914	NM_004621.6(TRPC6):c.-10C>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 301920	NM_004621.6(TRPC6):c.-254C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign