"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TRPC6"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972681	NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg)	TRPC6 (Q904R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	GUncertain significance
Select item 1344650	NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)	TRPC6 (R895L)	Single nucleotide variant (missense variant)	TRPC6-related disorder +1 more	GPathogenic
Select item 6155	NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)	TRPC6 (R895C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 259461	NM_004621.6(TRPC6):c.2645-22_2645-20del	TRPC6	Microsatellite (intron variant)	not provided +2 more	GBenign
Select item 1028795	NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp)	TRPC6 (V829D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1038546	NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val)	TRPC6 (L766V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 259459	NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign/Likely benign
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 1304571	NM_004621.6(TRPC6):c.2074G>A (p.Val692Ile)	TRPC6 (V692I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259457	NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 448705	NM_004621.6(TRPC6):c.1294-4G>A	TRPC6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1554279	NM_004621.6(TRPC6):c.1212G>A (p.Ala404=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +1 more	GLikely benign
Select item 633678	NM_004621.6(TRPC6):c.1079G>A (p.Arg360His)	TRPC6 (R360H)	Single nucleotide variant (missense variant)	not provided +1 more	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 1634297	NM_004621.6(TRPC6):c.948T>C (p.Asn316=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +1 more	GBenign/Likely benign
Select item 259464	NM_004621.6(TRPC6):c.888G>A (p.Thr296=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1600779	NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)	TRPC6 (I223V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 829823	NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)	TRPC6 (R175Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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)	Focal segmental glomerulosclerosis 2 +1 more	GLikely benign
Select item 983108	NM_004621.6(TRPC6):c.293A>T (p.Glu98Val)	TRPC6 (E98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047192	NM_004621.6(TRPC6):c.271C>T (p.Arg91Cys)	TRPC6 (R91C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1081241	NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup)	TRPC6	Duplication (inframe_insertion)	not provided +1 more	GLikely benign
Select item 976252	NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu)	TRPC6 (R73L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 266000	NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr)	TRPC6 (S2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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

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Items: 27