"TRPC6-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1344650	NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)	TRPC6 (R895L)	Single nucleotide variant (missense variant)	TRPC6-related condition +1 more	GPathogenic
Select item 1667504	NM_004621.6(TRPC6):c.2640C>T (p.Asn880=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3047666	NM_004621.6(TRPC6):c.2625G>A (p.Glu875=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 1545979	NM_004621.6(TRPC6):c.2409+6_2409+7dup	TRPC6	Duplication (intron variant)	TRPC6-related condition +1 more	GLikely benign
Select item 2628962	NM_004621.6(TRPC6):c.2369G>A (p.Gly790Asp)	TRPC6 (G790D)	Single nucleotide variant (missense variant)	TRPC6-related condition	GUncertain significance
Select item 2633016	NM_004621.6(TRPC6):c.2203G>A (p.Glu735Lys)	TRPC6 (E735K)	Single nucleotide variant (missense variant)	TRPC6-related condition	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 1601392	NM_004621.6(TRPC6):c.2043T>C (p.Ala681=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition +1 more	GBenign/Likely benign
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 3053269	NM_004621.6(TRPC6):c.1551C>A (p.Gly517=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 448705	NM_004621.6(TRPC6):c.1294-4G>A	TRPC6	Single nucleotide variant (intron variant)	TRPC6-related condition +3 more	GBenign/Likely benign
Select item 2632881	NM_004621.6(TRPC6):c.551C>T (p.Pro184Leu)	TRPC6 (P184L)	Single nucleotide variant (missense variant)	TRPC6-related condition	GUncertain significance
Select item 222850	NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)	TRPC6 (R175W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 3040427	NM_004621.6(TRPC6):c.477T>C (p.Ser159=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 3055260	NM_004621.6(TRPC6):c.285A>T (p.Leu95=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 2957678	NM_004621.6(TRPC6):c.273C>T (p.Arg91=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1081241	NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup)	TRPC6	Duplication (inframe_insertion)	TRPC6-related condition +2 more	GLikely benign
Select item 2066729	NM_004621.6(TRPC6):c.202C>T (p.Arg68Trp)	TRPC6 (R68W)	Single nucleotide variant (missense variant)	TRPC6-related condition +1 more	GUncertain significance
Select item 2631537	NM_004621.6(TRPC6):c.91T>C (p.Tyr31His)	TRPC6 (Y31H)	Single nucleotide variant (missense variant)	TRPC6-related condition	GUncertain significance
Select item 2635661	NM_004621.6(TRPC6):c.8A>G (p.Gln3Arg)	TRPC6 (Q3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3049928	NM_004621.6(TRPC6):c.7C>T (p.Gln3Ter)	TRPC6 (Q3*)	Single nucleotide variant (nonsense)	TRPC6-related condition	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22