All variants in the PIEZO1 gene

Information The variants shown are described using the NM_001142864.2 transcript reference sequence.

546 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.63T>G r.(?) p.(Ala21=) - benign g.88851310A>C g.88784902A>C PIEZO1(NM_001142864.4):c.63T>G (p.A21=) - PIEZO1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.64+17C>T r.(=) p.(=) - likely benign g.88851292G>A - PIEZO1(NM_001142864.4):c.64+17C>T - PIEZO1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1i c.64+8356C>T r.(?) p.(=) - likely benign g.88842953G>A g.88776545G>A - - PIEZO1_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.65-17C>G r.(=) p.(=) - likely benign g.88815904G>C - PIEZO1(NM_001142864.4):c.65-17C>G - PIEZO1_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.85G>A r.(?) p.(Gly29Arg) - VUS g.88815867C>T - - - PIEZO1_000409 - - - rs987409464 CLASSIFICATION record - - - - - MobiDetails
-/. - c.132C>T r.(?) p.(Phe44=) - benign g.88815820G>A g.88749412G>A PIEZO1(NM_001142864.4):c.132C>T (p.F44=) - PIEZO1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.173G>A r.(?) p.(Arg58His) - VUS g.88808818C>T g.88742410C>T PIEZO1(NM_001142864.4):c.173G>A (p.R58H) - PIEZO1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.248T>C r.(?) p.(Ile83Thr) - benign g.88808743A>G g.88742335A>G PIEZO1(NM_001142864.4):c.248T>C (p.I83T) - PIEZO1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.263A>G r.(?) p.(Asp88Gly) - likely benign g.88808728T>C g.88742320T>C PIEZO1(NM_001142864.2):c.263A>G (p.(Asp88Gly)), PIEZO1(NM_001142864.4):c.263A>G (p.D88G) - PIEZO1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.263A>G r.(?) p.(Asp88Gly) - likely benign g.88808728T>C - PIEZO1(NM_001142864.2):c.263A>G (p.(Asp88Gly)), PIEZO1(NM_001142864.4):c.263A>G (p.D88G) - PIEZO1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.283+7C>T r.(=) p.(=) - likely benign g.88808701G>A - PIEZO1(NM_001142864.4):c.283+7C>T - PIEZO1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283+11G>C r.(=) p.(=) - likely benign g.88808697C>G - PIEZO1(NM_001142864.2):c.283+11G>C (p.(=)) - PIEZO1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.284-4G>A r.spl? p.? - likely benign g.88808507C>T g.88742099C>T PIEZO1(NM_001142864.2):c.284-4G>A (p.?) - PIEZO1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.307C>T r.(?) p.(Arg103Ter) - pathogenic g.88808480G>A - PIEZO1(NM_001142864.4):c.307C>T (p.R103*) - PIEZO1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.363G>C r.(?) p.(Leu121=) - likely benign g.88807988C>G - PIEZO1(NM_001142864.4):c.363G>C (p.L121=) - PIEZO1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.376C>G r.(?) p.(Leu126Val) - VUS g.88807975G>C - PIEZO1(NM_001142864.4):c.376C>G (p.L126V) - PIEZO1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.455C>T r.(?) p.(Pro152Leu) - benign g.88807896G>A g.88741488G>A PIEZO1(NM_001142864.4):c.455C>T (p.P152L) - PIEZO1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.465+8C>T r.(=) p.(=) - benign g.88807878G>A g.88741470G>A PIEZO1(NM_001142864.4):c.465+8C>T - PIEZO1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.555C>T r.(?) p.(Ala185=) - benign g.88805055G>A g.88738647G>A PIEZO1(NM_001142864.4):c.555C>T (p.A185=) - PIEZO1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.566G>A r.(?) p.(Arg189Gln) - likely benign g.88805044C>T g.88738636C>T PIEZO1(NM_001142864.4):c.566G>A (p.R189Q) - PIEZO1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.588G>T r.(?) p.(Leu196=) - benign g.88805022C>A g.88738614C>A LOC100289580(NR_103774.1):n.965C>A (-), PIEZO1(NM_001142864.4):c.588G>T (p.L196=) - PIEZO1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.588G>T r.(?) p.(Leu196=) - likely benign g.88805022C>A g.88738614C>A LOC100289580(NR_103774.1):n.965C>A (-), PIEZO1(NM_001142864.4):c.588G>T (p.L196=) - PIEZO1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.590_599del r.(?) p.(Val197Glyfs*6) - VUS g.88805016_88805025del - PIEZO1(NM_001142864.2):c.590_599delTGGCGGCTGG (p.(Val197fs)) - PIEZO1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.601C>A r.(?) p.(Arg201=) - likely benign g.88805009G>T - PIEZO1(NM_001142864.4):c.601C>A (p.R201=) - PIEZO1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.608T>C r.(?) p.(Leu203Pro) - VUS g.88805002A>G - PIEZO1(NM_001142864.2):c.608T>C (p.(Leu203Pro)) - PIEZO1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.627A>G r.(?) p.(Ala209=) - benign g.88804983T>C g.88738575T>C PIEZO1(NM_001142864.4):c.627A>G (p.A209=) - PIEZO1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.627A>G r.(?) p.(Ala209=) - likely benign g.88804983T>C g.88738575T>C PIEZO1(NM_001142864.4):c.627A>G (p.A209=) - PIEZO1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.635-50G>A r.(?) p.(?) - likely benign g.88804898C>T - - - PIEZO1_000436 - - - rs1420419999 Unknown - - - - - MobiDetails
-/. - c.635-8C>T r.(=) p.(=) - benign g.88804856G>A g.88738448G>A PIEZO1(NM_001142864.4):c.635-8C>T - PIEZO1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.635-4G>A r.spl? p.? - likely benign g.88804852C>T - PIEZO1(NM_001142864.4):c.635-4G>A - PIEZO1_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.718A>G r.(?) p.(Ile240Val) - likely benign g.88804765T>C g.88738357T>C PIEZO1(NM_001142864.4):c.718A>G (p.I240V) - PIEZO1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.747C>T r.(?) p.(Cys249=) - likely benign g.88804736G>A g.88738328G>A PIEZO1(NM_001142864.4):c.747C>T (p.C249=) - PIEZO1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.749T>C r.(?) p.(Val250Ala) - benign g.88804734A>G g.88738326A>G PIEZO1(NM_001142864.4):c.749T>C (p.V250A) - PIEZO1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.751G>A r.(?) p.(Ala251Thr) - likely benign g.88804732C>T g.88738324C>T PIEZO1(NM_001142864.4):c.751G>A (p.A251T) - PIEZO1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.757G>A r.(?) p.(Gly253Arg) - likely benign g.88804726C>T - PIEZO1(NM_001142864.2):c.757G>A (p.(Gly253Arg)), PIEZO1(NM_001142864.4):c.757G>A (p.G253R) - PIEZO1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.757G>A r.(?) p.(Gly253Arg) - VUS g.88804726C>T - PIEZO1(NM_001142864.2):c.757G>A (p.(Gly253Arg)), PIEZO1(NM_001142864.4):c.757G>A (p.G253R) - PIEZO1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.812C>T r.(?) p.(Ala271Val) - VUS g.88804671G>A g.88738263G>A PIEZO1(NM_001142864.4):c.812C>T (p.A271V) - PIEZO1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.835G>A r.(?) p.(Gly279Ser) - likely benign g.88804648C>T - PIEZO1(NM_001142864.4):c.835G>A (p.(Gly279Ser)) - PIEZO1_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.848+17C>T r.(=) p.(=) - benign g.88804618G>A g.88738210G>A PIEZO1(NM_001142864.4):c.848+17C>T - PIEZO1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.849-10C>T r.(=) p.(=) - likely benign g.88804523G>A g.88738115G>A PIEZO1(NM_001142864.4):c.849-10C>T - PIEZO1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.919G>A r.(?) p.(Gly307Ser) - likely benign g.88804443C>T - PIEZO1(NM_001142864.2):c.919G>A (p.(Gly307Ser)) - PIEZO1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.954C>T r.(?) p.(Val318=) - likely benign g.88804408G>A g.88738000G>A PIEZO1(NM_001142864.2):c.954C>T (p.(=)), PIEZO1(NM_001142864.4):c.954C>T (p.V318=) - PIEZO1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.954C>T r.(?) p.(Val318=) - likely benign g.88804408G>A - PIEZO1(NM_001142864.2):c.954C>T (p.(=)), PIEZO1(NM_001142864.4):c.954C>T (p.V318=) - PIEZO1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.998G>A r.(?) p.(Arg333His) - likely benign g.88804364C>T g.88737956C>T PIEZO1(NM_001142864.2):c.998G>A (p.(Arg333His)), PIEZO1(NM_001142864.4):c.998G>A (p.R333H) - PIEZO1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.998G>A r.(?) p.(Arg333His) - benign g.88804364C>T g.88737956C>T PIEZO1(NM_001142864.2):c.998G>A (p.(Arg333His)), PIEZO1(NM_001142864.4):c.998G>A (p.R333H) - PIEZO1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.998G>A r.(?) p.(Arg333His) - likely benign g.88804364C>T g.88737956C>T PIEZO1(NM_001142864.2):c.998G>A (p.(Arg333His)), PIEZO1(NM_001142864.4):c.998G>A (p.R333H) - PIEZO1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.999C>T r.(?) p.(Arg333=) - likely benign g.88804363G>A g.88737955G>A PIEZO1(NM_001142864.4):c.999C>T (p.R333=) - PIEZO1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1001C>T r.(?) p.(Ala334Val) - likely benign g.88804361G>A g.88737953G>A PIEZO1(NM_001142864.2):c.1001C>T (p.(Ala334Val)) - PIEZO1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1009C>T r.(?) p.(Pro337Ser) - likely benign g.88804353G>A g.88737945G>A PIEZO1(NM_001142864.2):c.1009C>T (p.(Pro337Ser)), PIEZO1(NM_001142864.4):c.1009C>T (p.P337S) - PIEZO1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1009C>T r.(?) p.(Pro337Ser) - likely benign g.88804353G>A - PIEZO1(NM_001142864.2):c.1009C>T (p.(Pro337Ser)), PIEZO1(NM_001142864.4):c.1009C>T (p.P337S) - PIEZO1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1009C>T r.(?) p.(Pro337Ser) - likely benign g.88804353G>A - - - PIEZO1_000166 - - - rs556220156 CLASSIFICATION record - - - - - MobiDetails
-?/. - c.1013C>A r.(?) p.(Ser338Tyr) - likely benign g.88804349G>T g.88737941G>T LOC100289580(NR_103774.1):n.390G>T (-), PIEZO1(NM_001142864.4):c.1013C>A (p.S338Y) - PIEZO1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1013C>A r.(?) p.(Ser338Tyr) - benign g.88804349G>T - LOC100289580(NR_103774.1):n.390G>T (-), PIEZO1(NM_001142864.4):c.1013C>A (p.S338Y) - PIEZO1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1022G>T r.(?) p.(Arg341Met) - likely benign g.88804221C>A g.88737813C>A PIEZO1(NM_001142864.2):c.1022G>T (p.(Arg341Met)) - PIEZO1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1049C>T r.(?) p.(Ala350Val) - likely benign g.88804194G>A - PIEZO1(NM_001142864.2):c.1049C>T (p.(Ala350Val)) - PIEZO1_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1072C>T r.(?) p.(Leu358=) - likely benign g.88804171G>A - PIEZO1(NM_001142864.2):c.1072C>T (p.(=)) - PIEZO1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1075G>A r.(?) p.(Asp359Asn) - VUS g.88804168C>T - - - PIEZO1_000307 - - - rs759245322 CLASSIFICATION record - - - - - MobiDetails
-?/. - c.1093C>T r.(?) p.(Arg365Trp) - likely benign g.88804150G>A g.88737742G>A PIEZO1(NM_001142864.2):c.1093C>T (p.(Arg365Trp)) - PIEZO1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1107+1G>C r.spl? p.? - VUS g.88804135C>G - PIEZO1(NM_001142864.4):c.1107+1G>C - PIEZO1_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1123G>A r.(?) p.(Ala375Thr) - likely benign g.88804039C>T - PIEZO1(NM_001142864.4):c.1123G>A (p.A375T) - PIEZO1_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1132A>G r.(?) p.(Thr378Ala) - likely benign g.88804030T>C - PIEZO1(NM_001142864.2):c.1132A>G (p.(Thr378Ala)) - PIEZO1_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1141_1143del r.(?) p.(Asp381del) - benign g.88804020_88804022del g.88737612_88737614del PIEZO1(NM_001142864.4):c.1141_1143delGAT (p.D381del) - PIEZO1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1163T>C r.(?) p.(Leu388Pro) - VUS g.88803999A>G - PIEZO1(NM_001142864.2):c.1163T>C (p.(Leu388Pro)) - PIEZO1_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1180G>C r.(?) p.(Val394Leu) - benign g.88803982C>G g.88737574C>G PIEZO1(NM_001142864.4):c.1180G>C (p.V394L) - PIEZO1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1187G>A r.(?) p.(Arg396Gln) - likely benign g.88803975C>T g.88737567C>T PIEZO1(NM_001142864.2):c.1187G>A (p.(Arg396Gln)) - PIEZO1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1188G>A r.(?) p.(Arg396=) - likely benign g.88803974C>T - PIEZO1(NM_001142864.4):c.1188G>A (p.R396=) - PIEZO1_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1195+9C>T r.(=) p.(=) - likely benign g.88803958G>A - PIEZO1(NM_001142864.4):c.1195+9C>T - PIEZO1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1196-17G>A r.(=) p.(=) - benign g.88803164C>T - PIEZO1(NM_001142864.4):c.1196-17G>A - PIEZO1_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1196-10C>T r.(=) p.(=) - likely benign g.88803157G>A - PIEZO1(NM_001142864.4):c.1196-10C>T - PIEZO1_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1199G>A r.(?) p.(Arg400Gln) - likely benign g.88803144C>T - PIEZO1(NM_001142864.2):c.1199G>A (p.(Arg400Gln)) - PIEZO1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1219A>G r.(?) p.(Arg407Gly) - benign g.88803124T>C g.88736716T>C PIEZO1(NM_001142864.4):c.1219A>G (p.R407G) - PIEZO1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1232C>T r.(?) p.(Pro411Leu) - VUS g.88803111G>A - PIEZO1(NM_001142864.4):c.1232C>T (p.P411L) - PIEZO1_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1251C>T r.(?) p.(His417=) - likely benign g.88803092G>A g.88736684G>A PIEZO1(NM_001142864.4):c.1251C>T (p.H417=) - PIEZO1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1251C>T r.(?) p.(His417=) - likely benign g.88803092G>A - PIEZO1(NM_001142864.4):c.1251C>T (p.H417=) - PIEZO1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1277G>A r.(?) p.(Cys426Tyr) - VUS g.88803066C>T - PIEZO1(NM_001142864.4):c.1277G>A (p.C426Y) - PIEZO1_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1281G>A r.(?) p.(Ala427=) - likely benign g.88803062C>T - PIEZO1(NM_001142864.2):c.1281G>A (p.(=)) - PIEZO1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1297-16C>T r.(=) p.(=) - benign g.88802832G>A g.88736424G>A PIEZO1(NM_001142864.4):c.1297-16C>T - PIEZO1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1297-14T>C r.(=) p.(=) - benign g.88802830A>G g.88736422A>G PIEZO1(NM_001142864.4):c.1297-14T>C - PIEZO1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1297-6G>A r.(=) p.(=) - likely benign g.88802822C>T - PIEZO1(NM_001142864.2):c.1297-6G>A (p.(=)) - PIEZO1_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1365G>A r.(?) p.(Thr455=) - benign g.88802748C>T g.88736340C>T PIEZO1(NM_001142864.2):c.1365G>A (p.(Thr455=)), PIEZO1(NM_001142864.4):c.1365G>A (p.T455=) - PIEZO1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1365G>A r.(?) p.(Thr455=) - benign g.88802748C>T - PIEZO1(NM_001142864.2):c.1365G>A (p.(Thr455=)), PIEZO1(NM_001142864.4):c.1365G>A (p.T455=) - PIEZO1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1373G>A r.(?) p.(Ser458Asn) - VUS g.88802740C>T - PIEZO1(NM_001142864.2):c.1373G>A (p.(Ser458Asn)) - PIEZO1_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1401G>A r.(?) p.(Ser467=) - likely benign g.88802712C>T g.88736304C>T PIEZO1(NM_001142864.4):c.1401G>A (p.S467=) - PIEZO1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1481C>A r.(?) p.(Thr494Asn) - VUS g.88802632G>T - PIEZO1(NM_001142864.4):c.1481C>A (p.(Thr494Asn)) - PIEZO1_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1495G>A r.(?) p.(Val499Ile) - likely benign g.88802618C>T g.88736210C>T PIEZO1(NM_001142864.2):c.1495G>A (p.(Val499Ile)), PIEZO1(NM_001142864.4):c.1495G>A (p.V499I) - PIEZO1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1495G>A r.(?) p.(Val499Ile) - likely benign g.88802618C>T g.88736210C>T PIEZO1(NM_001142864.2):c.1495G>A (p.(Val499Ile)), PIEZO1(NM_001142864.4):c.1495G>A (p.V499I) - PIEZO1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1495G>A r.(?) p.(Val499Ile) - likely benign g.88802618C>T - PIEZO1(NM_001142864.2):c.1495G>A (p.(Val499Ile)), PIEZO1(NM_001142864.4):c.1495G>A (p.V499I) - PIEZO1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1496T>G r.(?) p.(Val499Gly) - VUS g.88802617A>C - PIEZO1(NM_001142864.4):c.1496T>G (p.(Val499Gly)) - PIEZO1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1527C>A r.(?) p.(Thr509=) - benign g.88802586G>T g.88736178G>T PIEZO1(NM_001142864.2):c.1527C>A (p.(=)), PIEZO1(NM_001142864.4):c.1527C>A (p.T509=) - PIEZO1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1527C>A r.(?) p.(Thr509=) - likely benign g.88802586G>T g.88736178G>T PIEZO1(NM_001142864.2):c.1527C>A (p.(=)), PIEZO1(NM_001142864.4):c.1527C>A (p.T509=) - PIEZO1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1534C>A r.(?) p.(Pro512Thr) - VUS g.88802579G>T - PIEZO1(NM_001142864.4):c.1534C>A (p.P512T) - PIEZO1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1534C>T r.(?) p.(Pro512Ser) - VUS g.88802579G>A - PIEZO1(NM_001142864.4):c.1534C>T (p.(Pro512Ser), p.P512S) - PIEZO1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1534C>T r.(?) p.(Pro512Ser) - VUS g.88802579G>A - PIEZO1(NM_001142864.4):c.1534C>T (p.(Pro512Ser), p.P512S) - PIEZO1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1540C>T r.(?) p.(Leu514=) - benign g.88802573G>A g.88736165G>A PIEZO1(NM_001142864.4):c.1540C>T (p.L514=) - PIEZO1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1557+16C>G r.(=) p.(=) - benign g.88802540G>C g.88736132G>C PIEZO1(NM_001142864.4):c.1557+16C>G - PIEZO1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1591C>T r.(?) p.(Arg531Cys) - VUS g.88801621G>A g.88735213G>A PIEZO1(NM_001142864.2):c.1591C>T (p.(Arg531Cys)), PIEZO1(NM_001142864.4):c.1591C>T (p.R531C) - PIEZO1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1591C>T r.(?) p.(Arg531Cys) - VUS g.88801621G>A - PIEZO1(NM_001142864.2):c.1591C>T (p.(Arg531Cys)), PIEZO1(NM_001142864.4):c.1591C>T (p.R531C) - PIEZO1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1641G>A r.(?) p.(=) - likely benign g.88801571C>T - PIEZO1(NM_001142864.4):c.1641G>A (p.A547=) - PIEZO1_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1657G>A r.(?) p.(Val553Met) - likely benign g.88801555C>T - PIEZO1(NM_001142864.2):c.1657G>A (p.(Val553Met)) - PIEZO1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 13i c.1669+1G>A r.spl? p.? - likely pathogenic g.88801542C>T g.88735134C>T - - PIEZO1_000002 - Journal: Fotiou e2015, PubMed: Fotiou 2015 - - Germline yes - - - - Pia Ostergaard
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