C1858915[trait identifier] AND "MVZ Medizinische Genetik Mainz"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236154	NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs)	TRPC6 (D873fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 3235175	NM_004621.6(TRPC6):c.2093A>G (p.Lys698Arg)	TRPC6 (K698R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3256870	NM_004621.6(TRPC6):c.1528T>G (p.Cys510Gly)	TRPC6 (C510G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3235169	NM_004621.6(TRPC6):c.1486A>T (p.Met496Leu)	TRPC6 (M496L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3066315	NM_004621.6(TRPC6):c.1190G>A (p.Gly397Asp)	TRPC6 (G397D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3234062	NM_004621.6(TRPC6):c.923C>A (p.Ala308Asp)	TRPC6 (A308D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3235967	NM_004621.6(TRPC6):c.758G>A (p.Cys253Tyr)	TRPC6 (C253Y)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3235153	NM_004621.6(TRPC6):c.478C>T (p.Arg160Ter)	TRPC6 (R160*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3236182	NM_004621.6(TRPC6):c.351G>A (p.Met117Ile)	TRPC6 (M117I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3234091	NM_004621.6(TRPC6):c.304T>C (p.Phe102Leu)	TRPC6 (F102L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3338409	NM_004621.6(TRPC6):c.170+5G>C	TRPC6	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 2	GUncertain significance