C1858915[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880181	NM_004621.6(TRPC6):c.*1386C>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301875	NM_004621.6(TRPC6):c.*1380G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301876	NM_004621.6(TRPC6):c.*1349T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301877	NM_004621.6(TRPC6):c.*1176T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877401	NM_004621.6(TRPC6):c.*1147A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301878	NM_004621.6(TRPC6):c.*1089C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301879	NM_004621.6(TRPC6):c.*1038T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877402	NM_004621.6(TRPC6):c.*1032A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301880	NM_004621.6(TRPC6):c.*1020G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301881	NM_004621.6(TRPC6):c.*970A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 878420	NM_004621.6(TRPC6):c.*960G>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301882	NM_004621.6(TRPC6):c.*821C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878421	NM_004621.6(TRPC6):c.*820C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301883	NM_004621.6(TRPC6):c.*792G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301885	NM_004621.6(TRPC6):c.*668G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301886	NM_004621.6(TRPC6):c.*575C>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301887	NM_004621.6(TRPC6):c.*553T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301888	NM_004621.6(TRPC6):c.*530T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 879012	NM_004621.6(TRPC6):c.*507T>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301890	NM_004621.6(TRPC6):c.*337G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301891	NM_004621.6(TRPC6):c.*336C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301892	NM_004621.6(TRPC6):c.*314C>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 879013	NM_004621.6(TRPC6):c.*293G>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 879014	NM_004621.6(TRPC6):c.*218C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301893	NM_004621.6(TRPC6):c.*175A>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 880228	NM_004621.6(TRPC6):c.*147T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301894	NM_004621.6(TRPC6):c.*40T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301896	NM_004621.6(TRPC6):c.*13C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301897	NM_004621.6(TRPC6):c.*9C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 880229	NM_004621.6(TRPC6):c.*3C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GLikely benign
Select item 301898	NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)	TRPC6 (P924S)	Single nucleotide variant (missense variant)	TRPC6-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259462	NM_004621.6(TRPC6):c.2712G>A (p.Gln904=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 301899	NM_004621.6(TRPC6):c.2574A>C (p.Ile858=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259460	NM_004621.6(TRPC6):c.2529C>T (p.Phe843=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 301900	NM_004621.6(TRPC6):c.2508T>C (p.Ser836=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301901	NM_004621.6(TRPC6):c.2410-11A>G	TRPC6	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877459	NM_004621.6(TRPC6):c.2392G>C (p.Asp798His)	TRPC6 (D798H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 877460	NM_004621.6(TRPC6):c.2304G>T (p.Pro768=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877461	NM_004621.6(TRPC6):c.2299G>A (p.Val767Met)	TRPC6 (V767M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 877462	NM_004621.6(TRPC6):c.2205+9T>G	TRPC6	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 259459	NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition +3 more	GBenign/Likely benign
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)	not specified +3 more	GBenign
Select item 301902	NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 632146	NM_004621.6(TRPC6):c.2009+1G>A	TRPC6	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301903	NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr)	TRPC6 (M643T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878482	NM_004621.6(TRPC6):c.1899C>T (p.Asp633=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 632147	NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs)	TRPC6 (R629fs)	Insertion (frameshift variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301904	NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr)	TRPC6 (R629T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 259457	NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition +3 more	GBenign/Likely benign
Select item 301905	NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val)	TRPC6 (I594V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 259455	NM_004621.6(TRPC6):c.1683T>C (p.Asn561=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign
Select item 301906	NM_004621.6(TRPC6):c.1677C>T (p.Asp559=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 879065	NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr)	TRPC6 (A538T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 301907	NM_004621.6(TRPC6):c.1344C>A (p.Ala448=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301908	NM_004621.6(TRPC6):c.1338C>T (p.His446=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +1 more	GBenign
Select item 259454	NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val)	TRPC6 (A404V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 301909	NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe)	TRPC6 (L353F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 259464	NM_004621.6(TRPC6):c.888G>A (p.Thr296=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 880286	NM_004621.6(TRPC6):c.642A>G (p.Thr214=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 880287	NM_004621.6(TRPC6):c.375C>T (p.Asn125=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880288	NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser)	TRPC6 (N125S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301911	NM_004621.6(TRPC6):c.336A>C (p.Pro112=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 266010	NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile)	TRPC6 (F102I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 880289	NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu)	TRPC6 (R91L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301912	NM_004621.6(TRPC6):c.213T>A (p.Val71=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GLikely benign
Select item 301913	NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)	TRPC6 (R58W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877504	NM_004621.6(TRPC6):c.114G>A (p.Leu38=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 749308	NM_004621.6(TRPC6):c.75C>T (p.Arg25=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259463	NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser)	TRPC6 (P15S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign
Select item 877505	NM_004621.6(TRPC6):c.18G>A (p.Ala6=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301914	NM_004621.6(TRPC6):c.-10C>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 301915	NM_004621.6(TRPC6):c.-35G>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301916	NM_004621.6(TRPC6):c.-125C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301917	NM_004621.6(TRPC6):c.-143C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878527	NM_004621.6(TRPC6):c.-205C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301918	NM_004621.6(TRPC6):c.-218C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 301919	NM_004621.6(TRPC6):c.-243C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878528	NM_004621.6(TRPC6):c.-244T>C	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301920	NM_004621.6(TRPC6):c.-254C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 878529	NM_004621.6(TRPC6):c.-264C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878530	NM_004621.6(TRPC6):c.-276G>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301921	NM_004621.6(TRPC6):c.-317C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301923	NM_004621.6(TRPC6):c.-343C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301924	NM_004621.6(TRPC6):c.-344C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 879114	NM_004621.6(TRPC6):c.-352C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301925	NM_004621.6(TRPC6):c.-360T>C	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301926	NM_004621.6(TRPC6):c.-361A>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 301927	NM_004621.6(TRPC6):c.-406C>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 879115	NM_004621.6(TRPC6):c.-424G>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance

ClinVar

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Items: 90