ClinVar for Gene (Select 7225) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 420

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183253	NM_004621.6(TRPC6):c.913G>T (p.Ala305Ser)	TRPC6 (A305S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183252	NM_004621.6(TRPC6):c.34G>A (p.Gly12Ser)	TRPC6 (G12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183251	NM_004621.6(TRPC6):c.302G>A (p.Arg101His)	TRPC6 (R101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183249	NM_004621.6(TRPC6):c.2046A>G (p.Ile682Met)	TRPC6 (I682M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183248	NM_004621.6(TRPC6):c.1712C>T (p.Thr571Ile)	TRPC6 (T571I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183247	NM_004621.6(TRPC6):c.1045G>A (p.Asp349Asn)	TRPC6 (D349N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063222	GRCh37/hg19 11q22.1(chr11:100770764-101584390)x3	ARHGAP42, PGR +2 more	Copy number gain	not specified	GUncertain significance
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 3053269	NM_004621.6(TRPC6):c.1551C>A (p.Gly517=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 3049928	NM_004621.6(TRPC6):c.7C>T (p.Gln3Ter)	TRPC6 (Q3*)	Single nucleotide variant (nonsense)	TRPC6-related condition	GUncertain significance
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 3040427	NM_004621.6(TRPC6):c.477T>C (p.Ser159=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related condition	GLikely benign
Select item 3020233	NM_004621.6(TRPC6):c.451C>T (p.Leu151Phe)	TRPC6 (L151F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2982301	NM_004621.6(TRPC6):c.329A>G (p.Asn110Ser)	TRPC6 (N110S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2979074	NM_004621.6(TRPC6):c.1237G>A (p.Val413Ile)	TRPC6 (V413I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963702	NM_004621.6(TRPC6):c.1620A>C (p.Ser540=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959930	NM_004621.6(TRPC6):c.711C>A (p.Thr237=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957869	NM_004621.6(TRPC6):c.435T>C (p.His145=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2896344	NM_004621.6(TRPC6):c.2601A>C (p.Val867=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877478	NM_004621.6(TRPC6):c.138C>A (p.Ala46=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870411	NM_004621.6(TRPC6):c.801T>C (p.Phe267=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867675	NM_004621.6(TRPC6):c.180T>G (p.Ser60=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824043	NM_004621.6(TRPC6):c.759C>T (p.Cys253=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2819105	NM_004621.6(TRPC6):c.2205+3A>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2800072	NM_004621.6(TRPC6):c.2485-11T>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792547	NM_004621.6(TRPC6):c.1471T>C (p.Phe491Leu)	TRPC6 (F491L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771483	NM_004621.6(TRPC6):c.1994A>G (p.Asn665Ser)	TRPC6 (N665S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768030	NM_004621.6(TRPC6):c.2410-2A>C	TRPC6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2752585	NM_004621.6(TRPC6):c.477T>A (p.Ser159=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721192	NM_004621.6(TRPC6):c.951C>A (p.Asp317Glu)	TRPC6 (D317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701666	NM_004621.6(TRPC6):c.334C>T (p.Pro112Ser)	TRPC6 (P112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699121	NM_004621.6(TRPC6):c.1167C>T (p.Ser389=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2683936	NM_004621.6(TRPC6):c.2091C>A (p.His697Gln)	TRPC6 (H697Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 2642313	NM_004621.6(TRPC6):c.2211C>T (p.Asp737=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2633016	NM_004621.6(TRPC6):c.2203G>A (p.Glu735Lys)	TRPC6 (E735K)	Single nucleotide variant (missense variant)	TRPC6-related condition	GUncertain significance
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 2631537	NM_004621.6(TRPC6):c.91T>C (p.Tyr31His)	TRPC6 (Y31H)	Single nucleotide variant (missense variant)	TRPC6-related condition	GUncertain significance
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 2605109	NM_004621.6(TRPC6):c.163C>T (p.Pro55Ser)	TRPC6 (P55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585357	NM_004621.6(TRPC6):c.1090dup (p.Ser364fs)	TRPC6 (S364fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2585265	NM_004621.6(TRPC6):c.1584G>A (p.Met528Ile)	TRPC6 (M528I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 2575851	NM_004621.6(TRPC6):c.1094G>A (p.Arg365His)	TRPC6 (R365H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572471	NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs)	TRPC6 (N805fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2553388	NM_004621.6(TRPC6):c.233G>A (p.Arg78Lys)	TRPC6 (R78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520114	NM_004621.6(TRPC6):c.199C>T (p.Arg67Trp)	TRPC6 (R67W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512675	NM_004621.6(TRPC6):c.596C>A (p.Ser199Tyr)	TRPC6 (S199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506480	NM_004621.6(TRPC6):c.2592_2595dup (p.Tyr866fs)	TRPC6 (Y866fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2500623	NM_004621.6(TRPC6):c.325G>A (p.Gly109Ser)	TRPC6 (G109S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2407367	NM_004621.6(TRPC6):c.600A>T (p.Glu200Asp)	TRPC6 (E200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390281	NM_004621.6(TRPC6):c.58G>A (p.Gly20Arg)	TRPC6 (G20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373888	NM_004621.6(TRPC6):c.101T>A (p.Met34Lys)	TRPC6 (M34K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337225	NM_004621.6(TRPC6):c.268G>A (p.Asp90Asn)	TRPC6 (D90N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313574	NM_004621.6(TRPC6):c.11G>A (p.Ser4Asn)	TRPC6 (S4N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309738	NM_004621.6(TRPC6):c.1310G>T (p.Arg437Leu)	TRPC6 (R437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296934	NM_004621.6(TRPC6):c.2375A>G (p.Lys792Arg)	TRPC6 (K792R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294262	NM_004621.6(TRPC6):c.1568T>C (p.Phe523Ser)	TRPC6 (F523S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270934	NM_004621.6(TRPC6):c.1486A>G (p.Met496Val)	TRPC6 (M496V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188302	NM_004621.6(TRPC6):c.2256C>T (p.Ser752=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182878	NM_004621.6(TRPC6):c.105C>T (p.Asp35=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2163934	NM_004621.6(TRPC6):c.1510+8C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2152601	NM_004621.6(TRPC6):c.1354A>G (p.Ile452Val)	TRPC6 (I452V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129424	NM_004621.6(TRPC6):c.1106C>A (p.Ala369Asp)	TRPC6 (A369D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2114121	NM_004621.6(TRPC6):c.478_479del (p.Arg160fs)	TRPC6 (R160fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2111356	NM_004621.6(TRPC6):c.952T>C (p.Tyr318His)	TRPC6 (Y318H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108777	NM_004621.6(TRPC6):c.1515G>A (p.Met505Ile)	TRPC6 (M505I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080621	NM_004621.6(TRPC6):c.155G>A (p.Gly52Asp)	TRPC6 (G52D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074601	NM_004621.6(TRPC6):c.2294A>G (p.Asn765Ser)	TRPC6 (N765S)	Single nucleotide variant (missense variant)	not provided	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 2066028	NM_004621.6(TRPC6):c.1517T>C (p.Ile506Thr)	TRPC6 (I506T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2058613	NM_004621.6(TRPC6):c.2615T>C (p.Ile872Thr)	TRPC6 (I872T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2056323	NM_004621.6(TRPC6):c.1302G>A (p.Lys434=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045386	NM_004621.6(TRPC6):c.2267A>C (p.Glu756Ala)	TRPC6 (E756A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976845	NM_004621.6(TRPC6):c.2621A>G (p.Lys874Arg)	TRPC6 (K874R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963101	NM_004621.6(TRPC6):c.336A>G (p.Pro112=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955011	NM_004621.6(TRPC6):c.20T>C (p.Phe7Ser)	TRPC6 (F7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949052	NM_004621.6(TRPC6):c.1685A>C (p.Asp562Ala)	TRPC6 (D562A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945330	NM_004621.6(TRPC6):c.2751A>G (p.Gly917=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942344	NM_004621.6(TRPC6):c.93T>C (p.Tyr31=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942200	NM_004621.6(TRPC6):c.2136T>C (p.Asn712=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940084	NM_004621.6(TRPC6):c.324T>C (p.Tyr108=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938811	NM_004621.6(TRPC6):c.2358G>A (p.Glu786=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931954	NM_004621.6(TRPC6):c.450A>G (p.Glu150=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920789	NM_004621.6(TRPC6):c.2409+19T>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918873	NM_004621.6(TRPC6):c.1460A>C (p.Lys487Thr)	TRPC6 (K487T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903023	NM_004621.6(TRPC6):c.2485-17A>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1806874	NM_004621.6(TRPC6):c.2484+1G>C	TRPC6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1804442	NM_004621.6(TRPC6):c.68C>T (p.Ala23Val)	TRPC6 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804246	NM_004621.6(TRPC6):c.1888A>G (p.Thr630Ala)	TRPC6 (T630A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716061	NM_004621.6(TRPC6):c.1688C>T (p.Thr563Ile)	TRPC6 (T563I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715810	NM_004621.6(TRPC6):c.2080A>C (p.Asn694His)	TRPC6 (N694H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712475	NM_004621.6(TRPC6):c.1645T>A (p.Trp549Arg)	TRPC6 (W549R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance

<< First< Prev

Page of 5