"Ambry Genetics"[submitter] AND "PIEZO2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 2607644	NM_001378183.1(PIEZO2):c.8326G>T (p.Gly2776Trp)	PIEZO2 (G2663W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470223	NM_001378183.1(PIEZO2):c.8267C>A (p.Pro2756Gln)	PIEZO2 (P2643Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212744	NM_001378183.1(PIEZO2):c.8253C>G (p.Asn2751Lys)	PIEZO2 (N2663K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396407	NM_001378183.1(PIEZO2):c.8159C>A (p.Ser2720Tyr)	PIEZO2 (S2632Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2496093	NM_001378183.1(PIEZO2):c.8119C>T (p.Pro2707Ser)	PIEZO2 (P2594S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212743	NM_001378183.1(PIEZO2):c.8060C>A (p.Thr2687Lys)	PIEZO2 (T2687K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510755	NM_001378183.1(PIEZO2):c.8035G>A (p.Ala2679Thr)	PIEZO2 (A2566T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212742	NM_001378183.1(PIEZO2):c.7996C>A (p.Leu2666Ile)	PIEZO2 (L2553I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445793	NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr)	PIEZO2 (A2544T +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 521668	NM_001378183.1(PIEZO2):c.7911del (p.Asn2638fs)	PIEZO2 (N2525fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2277008	NM_001378183.1(PIEZO2):c.7796T>C (p.Leu2599Pro)	PIEZO2 (L2599P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212741	NM_001378183.1(PIEZO2):c.7687C>A (p.Pro2563Thr)	PIEZO2 (P2563T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315304	NM_001378183.1(PIEZO2):c.7567G>A (p.Val2523Ile)	PIEZO2 (V2410I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2392555	NM_001378183.1(PIEZO2):c.7484G>A (p.Arg2495Gln)	PIEZO2 (R2407Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212740	NM_001378183.1(PIEZO2):c.7341A>T (p.Leu2447Phe)	PIEZO2 (L2359F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212739	NM_001378183.1(PIEZO2):c.7177G>A (p.Gly2393Ser)	PIEZO2 (G2280S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404978	NM_001378183.1(PIEZO2):c.7165T>G (p.Phe2389Val)	PIEZO2 (F2389V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291699	NM_001378183.1(PIEZO2):c.7135C>T (p.Leu2379Phe)	PIEZO2 (L2266F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337426	NM_001378183.1(PIEZO2):c.7102A>G (p.Thr2368Ala)	PIEZO2 (T2368A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455535	NM_001378183.1(PIEZO2):c.7072G>C (p.Val2358Leu)	PIEZO2 (V2270L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2524509	NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)	PIEZO2 (F2346C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2218457	NM_001378183.1(PIEZO2):c.6958G>A (p.Gly2320Ser)	PIEZO2 (G2207S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552014	NM_001378183.1(PIEZO2):c.6899C>G (p.Thr2300Ser)	PIEZO2 (T2187S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443552	NM_001378183.1(PIEZO2):c.6879C>G (p.His2293Gln)	PIEZO2 (H2180Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3212736	NM_001378183.1(PIEZO2):c.6842A>G (p.Tyr2281Cys)	PIEZO2 (Y2168C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307254	NM_001378183.1(PIEZO2):c.6838A>T (p.Ile2280Phe)	PIEZO2 (I2167F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465020	NM_001378183.1(PIEZO2):c.6622C>T (p.Arg2208Trp)	PIEZO2 (R2208W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623483	NM_001378183.1(PIEZO2):c.6614C>T (p.Thr2205Ile)	PIEZO2 (T2205I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466040	NM_001378183.1(PIEZO2):c.6596C>T (p.Thr2199Ile)	PIEZO2 (T2086I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212735	NM_001378183.1(PIEZO2):c.6471G>A (p.Met2157Ile)	PIEZO2 (M2157I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212734	NM_001378183.1(PIEZO2):c.6376G>A (p.Glu2126Lys)	PIEZO2 (E2038K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320102	NM_001378183.1(PIEZO2):c.6374A>C (p.Lys2125Thr)	PIEZO2 (K2012T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520879	NM_001378183.1(PIEZO2):c.6298T>C (p.Phe2100Leu)	PIEZO2 (F1987L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318632	NM_001378183.1(PIEZO2):c.6253A>G (p.Thr2085Ala)	PIEZO2 (T1997A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547940	NM_001378183.1(PIEZO2):c.6223C>T (p.Arg2075Cys)	PIEZO2 (R1962C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 436312	NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met)	PIEZO2 (L1955M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2227470	NM_001378183.1(PIEZO2):c.6124G>A (p.Val2042Met)	PIEZO2 (V1929M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212732	NM_001378183.1(PIEZO2):c.6119A>G (p.Tyr2040Cys)	PIEZO2 (Y1952C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338009	NM_001378183.1(PIEZO2):c.6112G>A (p.Val2038Met)	PIEZO2 (V2038M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462032	NM_001378183.1(PIEZO2):c.6101G>A (p.Arg2034His)	PIEZO2 (R1946H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212731	NM_001378183.1(PIEZO2):c.6097G>T (p.Ala2033Ser)	PIEZO2 (A1920S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373791	NM_001378183.1(PIEZO2):c.6056G>A (p.Arg2019Gln)	PIEZO2 (R1931Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327864	NM_001378183.1(PIEZO2):c.6007C>G (p.His2003Asp)	PIEZO2 (H2003D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517741	NM_001378183.1(PIEZO2):c.5929G>A (p.Asp1977Asn)	PIEZO2 (D1889N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521522	NM_001378183.1(PIEZO2):c.5917G>A (p.Asp1973Asn)	PIEZO2 (D1860N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3212730	NM_001378183.1(PIEZO2):c.5916C>A (p.Asp1972Glu)	PIEZO2 (D1859E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 493229	NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)	PIEZO2 (R1853H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3212729	NM_001378183.1(PIEZO2):c.5896C>T (p.Arg1966Cys)	PIEZO2 (R1966C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494775	NM_001378183.1(PIEZO2):c.5878G>A (p.Asp1960Asn)	PIEZO2 (D1960N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214597	NM_001378183.1(PIEZO2):c.5855A>G (p.His1952Arg)	PIEZO2 (H1839R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2409244	NM_001378183.1(PIEZO2):c.5752G>A (p.Glu1918Lys)	PIEZO2 (E1830K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212728	NM_001378183.1(PIEZO2):c.5744T>C (p.Met1915Thr)	PIEZO2 (M1802T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495604	NM_001378183.1(PIEZO2):c.5720C>T (p.Ala1907Val)	PIEZO2 (A1819V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384006	NM_001378183.1(PIEZO2):c.5716G>A (p.Glu1906Lys)	PIEZO2 (E1906K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596470	NM_001378183.1(PIEZO2):c.5689C>T (p.Pro1897Ser)	PIEZO2 (P1809S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071001	NM_001378183.1(PIEZO2):c.5684C>T (p.Thr1895Met)	PIEZO2 (T1782M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2343508	NM_001378183.1(PIEZO2):c.5650G>A (p.Val1884Met)	PIEZO2 (V1771M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535470	NM_001378183.1(PIEZO2):c.5649G>T (p.Glu1883Asp)	PIEZO2 (E1883D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492702	NM_001378183.1(PIEZO2):c.5642T>A (p.Ile1881Asn)	PIEZO2 (I1881N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219016	NM_001378183.1(PIEZO2):c.5244A>T (p.Arg1748Ser)	PIEZO2 (R1690S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1419673	NM_001378183.1(PIEZO2):c.5200G>T (p.Asp1734Tyr)	PIEZO2 (D1734Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2523453	NM_001378183.1(PIEZO2):c.5153T>C (p.Val1718Ala)	PIEZO2 (V1660A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303507	NM_001378183.1(PIEZO2):c.5109A>G (p.Ile1703Met)	PIEZO2 (I1645M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3212727	NM_001378183.1(PIEZO2):c.5068A>G (p.Lys1690Glu)	PIEZO2 (K1690E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270983	NM_001378183.1(PIEZO2):c.5067C>G (p.Ile1689Met)	PIEZO2 (I1689M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522688	NM_001378183.1(PIEZO2):c.5050C>G (p.Arg1684Gly)	PIEZO2 (R1626G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379707	NM_001378183.1(PIEZO2):c.4742C>T (p.Thr1581Met)	PIEZO2 (T1556M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227180	NM_001378183.1(PIEZO2):c.4742C>A (p.Thr1581Lys)	PIEZO2 (T1581K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553101	NM_001378183.1(PIEZO2):c.4684C>T (p.Arg1562Trp)	PIEZO2 (R1562W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216912	NM_001378183.1(PIEZO2):c.4609C>A (p.Gln1537Lys)	PIEZO2 (Q1512K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310351	NM_001378183.1(PIEZO2):c.4501C>G (p.Gln1501Glu)	PIEZO2 (Q1476E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418415	NM_001378183.1(PIEZO2):c.4475T>C (p.Ile1492Thr)	PIEZO2 (I1467T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985137	NM_001378183.1(PIEZO2):c.4453del (p.Ile1484_Val1485insTer)	PIEZO2	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2299561	NM_001378183.1(PIEZO2):c.4438T>G (p.Phe1480Val)	PIEZO2 (F1455V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613704	NM_001378183.1(PIEZO2):c.4397T>C (p.Ile1466Thr)	PIEZO2 (I1441T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307605	NM_001378183.1(PIEZO2):c.4387G>A (p.Val1463Met)	PIEZO2 (V1438M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328598	NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg)	PIEZO2 (K1392R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2619258	NM_001378183.1(PIEZO2):c.4238C>T (p.Ala1413Val)	PIEZO2 (A1413V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520915	NM_001378183.1(PIEZO2):c.4167+1G>C	PIEZO2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520914	NM_001378183.1(PIEZO2):c.4163T>C (p.Leu1388Pro)	PIEZO2 (L1363P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2232276	NM_001378183.1(PIEZO2):c.4126G>T (p.Ala1376Ser)	PIEZO2 (A1351S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472463	NM_001378183.1(PIEZO2):c.4114G>A (p.Asp1372Asn)	PIEZO2 (D1372N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609463	NM_001378183.1(PIEZO2):c.4112G>T (p.Trp1371Leu)	PIEZO2 (W1346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984143	NM_001378183.1(PIEZO2):c.3953T>C (p.Ile1318Thr)	PIEZO2 (I1293T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 757398	NM_001378183.1(PIEZO2):c.3907G>C (p.Asp1303His)	PIEZO2 (D1278H +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2316585	NM_001378183.1(PIEZO2):c.3838G>A (p.Ala1280Thr)	PIEZO2 (A1255T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521667	NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs)	PIEZO2 (C1235fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2483211	NM_001378183.1(PIEZO2):c.3763T>G (p.Phe1255Val)	PIEZO2 (F1255V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313568	NM_001378183.1(PIEZO2):c.3728T>C (p.Ile1243Thr)	PIEZO2 (I1218T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 716694	NM_001378183.1(PIEZO2):c.3683G>A (p.Ser1228Asn)	PIEZO2 (S1203N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1302189	NM_001378183.1(PIEZO2):c.3662C>T (p.Pro1221Leu)	PIEZO2 (P1196L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3212726	NM_001378183.1(PIEZO2):c.3580T>G (p.Tyr1194Asp)	PIEZO2 (Y1169D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355939	NM_001378183.1(PIEZO2):c.3529G>A (p.Ala1177Thr)	PIEZO2 (A1152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510589	NM_001378183.1(PIEZO2):c.3517T>A (p.Cys1173Ser)	PIEZO2 (C1148S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355041	NM_001378183.1(PIEZO2):c.3507G>A (p.Met1169Ile)	PIEZO2 (M1144I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483396	NM_001378183.1(PIEZO2):c.3482G>C (p.Gly1161Ala)	PIEZO2 (G1136A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430213	NM_001378183.1(PIEZO2):c.3311A>G (p.Tyr1104Cys)	PIEZO2 (Y1079C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3212725	NM_001378183.1(PIEZO2):c.3241T>C (p.Tyr1081His)	PIEZO2 (Y1056H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272996	NM_001378183.1(PIEZO2):c.3184G>A (p.Ala1062Thr)	PIEZO2 (A1062T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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