PIEZO1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246797	NM_001142864.4(PIEZO1):c.*163G>A	PIEZO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2041916	NM_001142864.4(PIEZO1):c.7561G>C (p.Glu2521Gln)	PIEZO1 (E2035Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1330570	NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)	PIEZO1 (K2520E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2232759	NM_001142864.4(PIEZO1):c.7555G>A (p.Glu2519Lys)	PIEZO1 (E2033K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030207	NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)	PIEZO1 (R2518H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 638426	NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)	PIEZO1 (R2518P)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +1 more	GUncertain significance
Select item 1206021	NM_001142864.4(PIEZO1):c.7550C>G (p.Thr2517Ser)	PIEZO1 (T2517S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693667	NM_001142864.4(PIEZO1):c.7540A>C (p.Ile2514Leu)	PIEZO1 (I2514L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789647	NM_001142864.4(PIEZO1):c.7530G>A (p.Pro2510=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618787	NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)	PIEZO1 (P2510L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 754467	NM_001142864.4(PIEZO1):c.7524C>T (p.Arg2508=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920894	NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)	PIEZO1 (R2508S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434720	NM_001142864.4(PIEZO1):c.7507C>T (p.Leu2503Phe)	PIEZO1 (L2017F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710278	NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)	PIEZO1 (K2502R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1163586	NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr)	PIEZO1 (A2501T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381962	NM_001142864.4(PIEZO1):c.7500C>T (p.Tyr2500=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 420219	NM_001142864.4(PIEZO1):c.7493_7497dup (p.Tyr2500fs)	PIEZO1 (Y2500fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 727409	NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 418948	NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])	PIEZO1	Microsatellite (inframe_insertion)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GPathogenic
Select item 985647	NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1])	PIEZO1	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 2434727	NM_001142864.4(PIEZO1):c.7481A>G (p.Glu2494Gly)	PIEZO1 (E2008G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328215	NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)	PIEZO1	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 995641	NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)	PIEZO1 (R2491W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2210796	NM_001142864.4(PIEZO1):c.7469C>T (p.Thr2490Ile)	PIEZO1 (T2490I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683497	NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln)	PIEZO1 (R2002Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2421652	NM_001142864.4(PIEZO1):c.7462C>T (p.Arg2488Trp)	PIEZO1 (R2002W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3256321	NM_001142864.4(PIEZO1):c.7447G>A (p.Asp2483Asn)	PIEZO1 (D2483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1935983	NM_001142864.4(PIEZO1):c.7440C>G (p.Leu2480=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863420	NM_001142864.4(PIEZO1):c.7434C>G (p.Leu2478=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234563	NM_001142864.4(PIEZO1):c.7431C>A (p.Ile2477=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1679453	NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met)	PIEZO1 (I2477M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2251383	NM_001142864.4(PIEZO1):c.7427G>A (p.Arg2476His)	PIEZO1 (R2476H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712201	NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)	PIEZO1 (R2476C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2434815	NM_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met)	PIEZO1 (V1988M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738114	NM_001142864.4(PIEZO1):c.7419C>T (p.Cys2473=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468106	NM_001142864.4(PIEZO1):c.7415C>T (p.Pro2472Leu)	PIEZO1 (P1986L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546470	NM_001142864.4(PIEZO1):c.7414C>T (p.Pro2472Ser)	PIEZO1 (P2472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434725	NM_001142864.4(PIEZO1):c.7398T>C (p.Ile2466=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3212714	NM_001142864.4(PIEZO1):c.7393T>C (p.Ser2465Pro)	PIEZO1 (S1979P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034885	NM_001142864.4(PIEZO1):c.7391A>G (p.His2464Arg)	PIEZO1 (H1978R +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 764306	NM_001142864.4(PIEZO1):c.7389G>A (p.Ser2463=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758559	NM_001142864.4(PIEZO1):c.7389G>T (p.Ser2463=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679443	NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala)	PIEZO1 (S2463A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055205	NM_001142864.4(PIEZO1):c.7386C>T (p.Ile2462=)	PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 499285	NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)	PIEZO1 (E2461K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1676780	NM_001142864.4(PIEZO1):c.7380C>G (p.Ser2460Arg)	PIEZO1 (S2460R)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 994216	NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)	PIEZO1 (F2458L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3212713	NM_001142864.4(PIEZO1):c.7370G>C (p.Gly2457Ala)	PIEZO1 (G1971A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192027	NM_001142864.4(PIEZO1):c.7369G>A (p.Gly2457Arg)	PIEZO1 (G2457R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2646984	NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235926	NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)	PIEZO1 (R1970P +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GLikely pathogenic
Select item 55806	NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	PIEZO1 (R2456H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more	GPathogenic
Select item 2921150	NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser)	PIEZO1 (R2456S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160112	NM_001142864.4(PIEZO1):c.7365G>A (p.Val2455=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2243111	NM_001142864.4(PIEZO1):c.7363G>T (p.Val2455Leu)	PIEZO1 (V2455L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1143643	NM_001142864.4(PIEZO1):c.7363G>A (p.Val2455Met)	PIEZO1 (V2455M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 440052	NM_001142864.4(PIEZO1):c.7362C>T (p.Phe2454=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2692311	NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)	PIEZO1	Duplication (inframe insertion +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1693668	NM_001142864.4(PIEZO1):c.7354G>A (p.Gly2452Ser)	PIEZO1 (G2452S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739465	NM_001142864.4(PIEZO1):c.7353C>T (p.Ile2451=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693669	NM_001142864.4(PIEZO1):c.7351A>G (p.Ile2451Val)	PIEZO1 (I2451V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689736	NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)	PIEZO1 (V1959M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 779973	NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212712	NM_001142864.4(PIEZO1):c.7318A>G (p.Ile2440Val)	PIEZO1 (I1954V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810172	NM_001142864.4(PIEZO1):c.7317-5del	PIEZO1	Deletion (intron variant)	not provided	GUncertain significance
Select item 726258	NM_001142864.4(PIEZO1):c.7317-5C>T	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1239448	NM_001142864.4(PIEZO1):c.7316+21del	PIEZO1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1693670	NM_001142864.4(PIEZO1):c.7316+4AGTG[3]	PIEZO1	Microsatellite (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 721509	NM_001142864.4(PIEZO1):c.7316+8_7316+11del	PIEZO1	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 3032556	NM_001142864.4(PIEZO1):c.7316+10T>C	PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 995671	NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp)	PIEZO1 (G2439D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741800	NM_001142864.4(PIEZO1):c.7314C>T (p.Tyr2438=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742261	NM_001142864.4(PIEZO1):c.7296C>T (p.Leu2432=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809857	NM_001142864.4(PIEZO1):c.7292G>T (p.Ser2431Ile)	PIEZO1 (S1945I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 223133	NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu)	PIEZO1 (P2430L)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GPathogenic
Select item 2434707	NM_001142864.4(PIEZO1):c.7283G>C (p.Ser2428Thr)	PIEZO1 (S1942T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689720	NM_001142864.4(PIEZO1):c.7271G>C (p.Ser2424Thr)	PIEZO1 (S1938T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637132	NM_001142864.4(PIEZO1):c.7261G>A (p.Val2421Ile)	PIEZO1 (V1935I +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 709312	NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn)	PIEZO1 (D2414N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3045846	NM_001142864.4(PIEZO1):c.7239C>G (p.Thr2413=)	PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 2792908	NM_001142864.4(PIEZO1):c.7239C>A (p.Thr2413=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287798	NM_001142864.4(PIEZO1):c.7235G>A (p.Arg2412Gln)	PIEZO1 (R2412Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2683386	NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)	PIEZO1 (R1926W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304035	NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly)	PIEZO1 (R2412G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3022823	NM_001142864.4(PIEZO1):c.7231T>G (p.Cys2411Gly)	PIEZO1 (C2411G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2293480	NM_001142864.4(PIEZO1):c.7231T>A (p.Cys2411Ser)	PIEZO1 (C2411S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633424	NM_001142864.4(PIEZO1):c.7226A>C (p.Gln2409Pro)	PIEZO1 (Q1923P +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 2443842	NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)	PIEZO1 (E2407K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344481	NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)	PIEZO1 (E1921Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1176357	NM_001142864.4(PIEZO1):c.7218C>T (p.Ile2406=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330625	NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln)	PIEZO1 (E2402Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1327356	NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser)	PIEZO1 (G2399S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 789648	NM_001142864.4(PIEZO1):c.7194C>T (p.Thr2398=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 978650	NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val)	PIEZO1 (A2395V)	Single nucleotide variant (missense variant)	Hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 995626	NM_001142864.4(PIEZO1):c.7183G>A (p.Ala2395Thr)	PIEZO1 (A2395T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163587	NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)	PIEZO1 (G2394S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1163588	NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)	PIEZO1 (E2392K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1330730	NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)	PIEZO1 (R2390Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2689730	NM_001142864.4(PIEZO1):c.7168C>T (p.Arg2390Trp)	PIEZO1 (R1904W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306423	NM_001142864.4(PIEZO1):c.7163A>G (p.Gln2388Arg)	PIEZO1 (Q2388R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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