ClinVar for Gene (Select 29850) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329280	NM_014555.4(TRPM5):c.1717G>A (p.Glu573Lys)	TRPM5 (E573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329279	NM_014555.4(TRPM5):c.2146C>T (p.Arg716Cys)	TRPM5 (R716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329278	NM_014555.4(TRPM5):c.1849G>A (p.Glu617Lys)	TRPM5 (E617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329277	NM_014555.4(TRPM5):c.3026C>T (p.Ala1009Val)	TRPM5 (A1009V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329276	NM_014555.4(TRPM5):c.10G>A (p.Val4Ile)	TRPM5 (V4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329275	NM_014555.4(TRPM5):c.692A>C (p.Asn231Thr)	TRPM5 (N231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329274	NM_014555.4(TRPM5):c.1129T>C (p.Ser377Pro)	TRPM5 (S377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329273	NM_014555.4(TRPM5):c.2068A>G (p.Lys690Glu)	TRPM5 (K690E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329272	NM_014555.4(TRPM5):c.1708G>A (p.Ala570Thr)	TRPM5 (A570T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329270	NM_014555.4(TRPM5):c.1783G>A (p.Ala595Thr)	TRPM5 (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329269	NM_014555.4(TRPM5):c.1714C>T (p.Arg572Cys)	TRPM5 (R572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329268	NM_014555.4(TRPM5):c.3425T>C (p.Val1142Ala)	TRPM5 (V1142A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329267	NM_014555.4(TRPM5):c.1355G>A (p.Arg452Gln)	TRPM5 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329266	NM_014555.4(TRPM5):c.1543G>A (p.Glu515Lys)	TRPM5 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329265	NM_014555.4(TRPM5):c.3409G>A (p.Glu1137Lys)	TRPM5 (E1137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3183376	NM_014555.4(TRPM5):c.98C>G (p.Ser33Cys)	TRPM5 (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183375	NM_014555.4(TRPM5):c.80A>G (p.Glu27Gly)	TRPM5 (E27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183374	NM_014555.4(TRPM5):c.778G>A (p.Ala260Thr)	TRPM5 (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183373	NM_014555.4(TRPM5):c.733G>A (p.Glu245Lys)	TRPM5 (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183371	NM_014555.4(TRPM5):c.572C>T (p.Pro191Leu)	TRPM5 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183370	NM_014555.4(TRPM5):c.439C>T (p.His147Tyr)	TRPM5 (H147Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183369	NM_014555.4(TRPM5):c.358G>C (p.Val120Leu)	TRPM5 (V120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183368	NM_014555.4(TRPM5):c.3488C>T (p.Ser1163Leu)	TRPM5 (S1163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183367	NM_014555.4(TRPM5):c.3309G>C (p.Lys1103Asn)	TRPM5 (K1103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183366	NM_014555.4(TRPM5):c.3050T>C (p.Leu1017Pro)	TRPM5 (L1017P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183365	NM_014555.4(TRPM5):c.2971A>G (p.Met991Val)	TRPM5 (M991V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183364	NM_014555.4(TRPM5):c.2965G>A (p.Ala989Thr)	TRPM5 (A989T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183363	NM_014555.4(TRPM5):c.2800T>C (p.Ser934Pro)	TRPM5 (S934P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183362	NM_014555.4(TRPM5):c.2587A>G (p.Ile863Val)	TRPM5 (I863V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183361	NM_014555.4(TRPM5):c.2230G>A (p.Ala744Thr)	TRPM5 (A744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183360	NM_014555.4(TRPM5):c.2215G>A (p.Val739Met)	TRPM5 (V739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183358	NM_014555.4(TRPM5):c.1780C>T (p.Arg594Cys)	TRPM5 (R594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183356	NM_014555.4(TRPM5):c.1319G>A (p.Arg440Gln)	TRPM5 (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183355	NM_014555.4(TRPM5):c.1306C>G (p.Gln436Glu)	TRPM5 (Q436E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183354	NM_014555.4(TRPM5):c.1237G>A (p.Gly413Arg)	TRPM5 (G413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183353	NM_014555.4(TRPM5):c.1215C>A (p.Asp405Glu)	TRPM5 (D405E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183352	NM_014555.4(TRPM5):c.1201G>A (p.Asp401Asn)	TRPM5 (D401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183351	NM_014555.4(TRPM5):c.110G>A (p.Arg37Gln)	TRPM5 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641361	NM_014555.4(TRPM5):c.796C>T (p.Leu266=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641360	NM_014555.4(TRPM5):c.933C>A (p.His311Gln)	TRPM5 (H311Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641359	NM_014555.4(TRPM5):c.2632T>C (p.Phe878Leu)	TRPM5 (F878L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641358	NM_014555.4(TRPM5):c.2808C>T (p.His936=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641357	NM_014555.4(TRPM5):c.2994C>T (p.Tyr998=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641356	NM_014555.4(TRPM5):c.3380G>A (p.Gly1127Asp)	TRPM5 (G1127D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620745	NM_014555.4(TRPM5):c.2972T>C (p.Met991Thr)	TRPM5 (M991T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610286	NM_014555.4(TRPM5):c.3074G>T (p.Arg1025Leu)	TRPM5 (R1025L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606909	NM_014555.4(TRPM5):c.1021C>G (p.His341Asp)	TRPM5 (H341D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606339	NM_014555.4(TRPM5):c.2374G>C (p.Asp792His)	TRPM5 (D792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603098	NM_014555.4(TRPM5):c.1429G>A (p.Ala477Thr)	TRPM5 (A477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601285	NM_014555.4(TRPM5):c.1589G>T (p.Arg530Leu)	TRPM5 (R530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595149	NM_014555.4(TRPM5):c.3301C>T (p.Arg1101Cys)	TRPM5 (R1101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562939	NM_014555.4(TRPM5):c.1354C>T (p.Arg452Trp)	TRPM5 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553268	NM_014555.4(TRPM5):c.2926G>A (p.Ala976Thr)	TRPM5 (A976T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546627	NM_014555.4(TRPM5):c.2893G>T (p.Val965Phe)	TRPM5 (V965F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534242	NM_014555.4(TRPM5):c.1811G>A (p.Arg604His)	TRPM5 (R604H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529535	NM_014555.4(TRPM5):c.699T>A (p.Asp233Glu)	TRPM5 (D233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528657	NM_014555.4(TRPM5):c.617A>T (p.Lys206Met)	TRPM5 (K206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528037	NM_014555.4(TRPM5):c.188C>T (p.Pro63Leu)	TRPM5 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528026	NM_014555.4(TRPM5):c.1351G>A (p.Ala451Thr)	TRPM5 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527538	NM_014555.4(TRPM5):c.3361G>C (p.Asp1121His)	TRPM5 (D1121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525407	NM_014555.4(TRPM5):c.3235C>T (p.Arg1079Trp)	TRPM5 (R1079W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523309	NM_014555.4(TRPM5):c.2972T>G (p.Met991Arg)	TRPM5 (M991R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519465	NM_014555.4(TRPM5):c.1666A>C (p.Lys556Gln)	TRPM5 (K556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518589	NM_014555.4(TRPM5):c.316A>G (p.Ser106Gly)	TRPM5 (S106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512064	NM_014555.4(TRPM5):c.1469G>A (p.Arg490His)	TRPM5 (R490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511558	NM_014555.4(TRPM5):c.1264G>A (p.Val422Met)	TRPM5 (V422M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2481347	NM_014555.4(TRPM5):c.3368T>A (p.Leu1123Gln)	TRPM5 (L1123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481346	NM_014555.4(TRPM5):c.2045A>G (p.Asp682Gly)	TRPM5 (D682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476307	NM_014555.4(TRPM5):c.767C>G (p.Ser256Trp)	TRPM5 (S256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468629	NM_014555.4(TRPM5):c.1301G>A (p.Arg434Gln)	TRPM5 (R434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465365	NM_014555.4(TRPM5):c.655G>C (p.Gly219Arg)	TRPM5 (G219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456461	NM_014555.4(TRPM5):c.1109A>G (p.Asn370Ser)	TRPM5 (N370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2408907	NM_014555.4(TRPM5):c.136G>A (p.Gly46Arg)	TRPM5 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407962	NM_014555.4(TRPM5):c.1599G>A (p.Met533Ile)	TRPM5 (M533I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398041	NM_014555.4(TRPM5):c.2602C>T (p.Arg868Cys)	TRPM5 (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397219	NM_014555.4(TRPM5):c.1425G>C (p.Gln475His)	TRPM5 (Q475H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393075	NM_014555.4(TRPM5):c.1159G>A (p.Ala387Thr)	TRPM5 (A387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380626	NM_014555.4(TRPM5):c.1789G>A (p.Ala597Thr)	TRPM5 (A597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378437	NM_014555.4(TRPM5):c.1300C>T (p.Arg434Trp)	TRPM5 (R434W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377822	NM_014555.4(TRPM5):c.1721C>A (p.Ala574Glu)	TRPM5 (A574E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372391	NM_014555.4(TRPM5):c.601C>T (p.Arg201Trp)	TRPM5 (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372276	NM_014555.4(TRPM5):c.1180G>A (p.Glu394Lys)	TRPM5 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370244	NM_014555.4(TRPM5):c.1712C>T (p.Thr571Met)	TRPM5 (T571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368440	NM_014555.4(TRPM5):c.2168G>A (p.Arg723His)	TRPM5 (R723H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368286	NM_014555.4(TRPM5):c.3427G>C (p.Ala1143Pro)	TRPM5 (A1143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367257	NM_014555.4(TRPM5):c.55C>T (p.Arg19Trp)	TRPM5 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364380	NM_014555.4(TRPM5):c.1927G>A (p.Ala643Thr)	TRPM5 (A643T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362839	NM_014555.4(TRPM5):c.1978G>A (p.Val660Ile)	TRPM5 (V660I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357190	NM_014555.4(TRPM5):c.343C>A (p.His115Asn)	TRPM5 (H115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355229	NM_014555.4(TRPM5):c.398G>A (p.Arg133His)	TRPM5 (R133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352357	NM_014555.4(TRPM5):c.52C>G (p.Arg18Gly)	TRPM5 (R18G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352070	NM_014555.4(TRPM5):c.803A>G (p.Asn268Ser)	TRPM5 (N268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350372	NM_014555.4(TRPM5):c.1340G>A (p.Gly447Asp)	TRPM5 (G447D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349553	NM_014555.4(TRPM5):c.3302G>A (p.Arg1101His)	TRPM5 (R1101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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