PIEZO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 151647	GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	CTU2, LOC130059740 +16 more	Copy number loss	See cases	GBenign
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1278525	NC_000016.10:g.88714978_88714980dup	CTU2, PIEZO1	Duplication (intron variant)	not provided	GBenign
Select item 1272793	NC_000016.10:g.88714976_88714977insTGT	CTU2, PIEZO1	Insertion (intron variant)	not provided	GBenign
Select item 1224641	NM_001012759.3(CTU2):c.1420-37A>G	CTU2, PIEZO1	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	GBenign
Select item 2499790	NC_000016.10:g.88715060C>A	CTU2, PIEZO1 (P391T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246782	NM_001012759.3(CTU2):c.1478+20C>T	CTU2, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255273	NC_000016.10:g.88715150G>A	CTU2, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255421	NM_001012759.3(CTU2):c.1503G>C (p.Arg501=)	CTU2, PIEZO1 (G482R)	Single nucleotide variant (synonymous variant +1 more)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	GBenign
Select item 2574783	NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)	CTU2, PIEZO1 (I418fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1252833	NM_001142864.4(PIEZO1):c.*222T>G	CTU2, PIEZO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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

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