Full data view for gene PIEZO2

Information The variants shown are described using the NM_001378183.1 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.64+17053T>C r.(=) p.(=) Unknown - likely benign g.11131471A>G - PIEZO2(NM_001378183.1):c.64+17053T>C - PIEZO2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.164A>C r.(?) p.(His55Pro) Parent #1 - benign g.10979655T>G g.10979657T>G - - PIEZO2_000101 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145948919 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.173G>A r.(?) p.(Arg58Gln) Unknown ACMG VUS g.10979646C>T g.10979648C>T - - PIEZO2_000055 - - - rs879674484 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.330-18853A>T r.(=) p.(=) Unknown - likely benign g.10890266T>A - PIEZO2(NM_001378183.1):c.330-18853A>T - PIEZO2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.605G>T r.(?) p.(Arg202Leu) Unknown - VUS g.10857097C>A - PIEZO2(NM_001378183.1):c.605G>T (p.(Arg202Leu)) - PIEZO2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.701C>T r.(?) p.(Ser234Leu) Unknown - likely pathogenic g.10857001G>A g.10857003G>A PIEZO2 c.701C>T, p.Ser234Leu - PIEZO2_000123 heterozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 140 in-house exomes alleles from Mexican individuals without ocular malformations - - - DNA SEQ-NG, SEQ blood - retinal disease 8 PubMed: Matias-Perez 2018 PIEZO2 family, proband F - - Mexican - - - - 1 LOVD
+?/. - c.701C>T r.(?) p.(Ser234Leu) Unknown - likely pathogenic g.10857001G>A g.10857003G>A PIEZO2 c.701C>T, p.Ser234Leu - PIEZO2_000123 heterozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 140 in-house exomes alleles from Mexican individuals without ocular malformations - - - DNA SEQ-NG, SEQ blood - retinal disease 8's mother PubMed: Matias-Perez 2018 PIEZO2 family, proband's mother F - - Mexican - - - - 1 LOVD
-?/. - c.703+348del r.(=) p.(=) Unknown - likely benign g.10856653del - PIEZO2(NM_001378183.1):c.703+348del - PIEZO2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013C>T r.(?) p.(Pro338Leu) Unknown - VUS g.10807177G>A - PIEZO2(NM_001378183.1):c.1013C>T (p.(Pro338Leu)) - PIEZO2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118T>C r.(?) p.(Leu373Pro) Unknown - likely benign g.10803955A>G - PIEZO2(NM_022068.2):c.1118T>C (p.(Leu373Pro)) - PIEZO2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1240-5G>A r.spl? p.? Unknown - VUS g.10800478C>T - PIEZO2(NM_022068.4):c.1240-5G>A - PIEZO2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1758+17C>T r.(=) p.? Parent #1 - benign g.10794753G>A g.10794755G>A - - PIEZO2_000096 80 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55646160 Germline - 80/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 80 Mohammed Faruq
-/. - c.1758+17C>T r.(=) p.? Both (homozygous) - benign g.10794753G>A g.10794755G>A - - PIEZO2_000096 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55646160 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1883-8A>C r.(=) p.(=) Unknown - likely benign g.10789371T>G - PIEZO2(NM_001378183.1):c.1883-8A>C - PIEZO2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963A>G r.(?) p.(Arg655Gly) Unknown - likely benign g.10789283T>C - PIEZO2(NM_022068.2):c.1963A>G (p.(Arg655Gly)) - PIEZO2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2134A>G r.(?) p.(Met712Val) Parent #1 - likely pathogenic g.10789112T>C g.10789114T>C - - PIEZO2_000011 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, affected mother/daugther F - - - - - - - 2 Johan den Dunnen
+?/. - c.2134A>G r.(?) p.(Met712Val) Parent #1 - likely pathogenic g.10789112T>C g.10789114T>C - - PIEZO2_000011 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 5-generation family, 3 affecteds (2F, M) - - - - - - - - 3 Johan den Dunnen
+/. - c.2404A>T r.(?) p.(Ile802Phe) Unknown - pathogenic g.10784870T>A g.10784872T>A - - PIEZO2_000014 - PubMed: Coste 2013 - - De novo ? - - - - DNA SEQ - - ? - PubMed: Coste 2013 Mother of 23487782-Ind2 F ? - Unknown - - - operated for hypertrophic, constricted neck muscles; Physical therapy 1 Marianne Vos (LOVD-team)
+/. - c.2404A>T r.(?) p.(Ile802Phe) Unknown - pathogenic g.10784870T>A g.10784872T>A - - PIEZO2_000014 - PubMed: Coste 2013 - - De novo ? - - - - DNA SEQ - - ? - PubMed: Coste 2013 Son of 23487782-Ind1 M ? - Unknown - - - Physical therapy 1 Marianne Vos (LOVD-team)
-?/. - c.2595G>A r.(?) p.(Pro865=) Unknown - likely benign g.10773600C>T - PIEZO2(NM_022068.3):c.2520G>A (p.P840=) - PIEZO2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3068T>C r.(?) p.(Met1023Thr) Unknown - likely pathogenic g.10762975A>G g.10762977A>G - - PIEZO2_000006 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.3123+9C>T r.(=) p.(=) Unknown - likely benign g.10762911G>A - PIEZO2(NM_001378183.1):c.3123+9C>T - PIEZO2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3298C>T r.(?) p.(Arg1100Cys) Unknown - VUS g.10761061G>A - PIEZO2(NM_001378183.1):c.3298C>T (p.(Arg1100Cys)) - PIEZO2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3317G>A r.(?) p.(Arg1106Gln) Unknown - likely benign g.10761042C>T - PIEZO2(NM_022068.2):c.3242G>A (p.(Arg1081Gln)) - PIEZO2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3370A>G r.(?) p.(Thr1124Ala) Unknown - VUS g.10760989T>C - PIEZO2(NM_022068.2):c.3295A>G (p.(Thr1099Ala)) - PIEZO2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3487C>T r.(?) p.(Arg1163Ter) Unknown - VUS g.10759871G>A NC_000018.10:g.10759873G>A - - PIEZO2_000120 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - NMD Pat66 PubMed: Thomas 2022 patient, affected father and sister - - France - - - - - 3 Johan den Dunnen
?/. - c.3518G>T r.(?) p.(Cys1173Phe) Unknown - VUS g.10759840C>A g.10759842C>A - - PIEZO2_000038 - - - rs35033671 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam8 - - - - - - - - - - 2 Xiang Jiao
-?/. - c.3655+9G>A r.(=) p.(=) Unknown - likely benign g.10759694C>T - PIEZO2(NM_001378183.1):c.3655+9G>A - PIEZO2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3730G>A r.(?) p.(Val1244Met) Maternal (confirmed) ACMG VUS g.10759507C>T g.10759509C>T - - PIEZO2_000037 ACMG PS3, PS4, PM2, PM3, PP4, BP4, BP6 PubMed: Kritioti 2021 - rs73946020 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat8 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
+/. - c.3757+1G>A r.spl p.? Unknown - pathogenic g.10759479C>T g.10759481C>T - - PIEZO2_000057 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
-?/. - c.3793C>G r.(?) p.(Arg1265Gly) Unknown - likely benign g.10758097G>C - PIEZO2(NM_001378183.1):c.3793C>G (p.(Arg1265Gly)) - PIEZO2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3924-546A>C r.(=) p.(=) Unknown - likely benign g.10753423T>G - PIEZO2(NM_001378183.1):c.3924-546A>C - PIEZO2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3953T>C r.(?) p.(Ile1318Thr) Unknown - VUS g.10752848A>G - PIEZO2(NM_001378183.1):c.3953T>C (p.(Ile1318Thr)) - PIEZO2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3968del r.(?) p.(Phe1323SerfsTer39) Both (homozygous) - likely pathogenic (recessive) g.10752834del g.10752836del - - PIEZO2_000126 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DA, ID 10MS9600 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
?/. - c.4198G>A r.(?) p.(Val1400Met) Unknown - VUS g.10750155C>T - PIEZO2(NM_022068.2):c.4123G>A (p.(Val1375Met)) - PIEZO2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4367G>A r.(?) p.(Ser1456Asn) Unknown - VUS g.10748526C>T - PIEZO2(NM_001378183.1):c.4367G>A (p.(Ser1456Asn)) - PIEZO2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4636+3A>G r.spl? p.? Unknown - likely benign g.10742489T>C - PIEZO2(NM_022068.4):c.4561+3A>G - PIEZO2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4657G>A r.(?) p.(Ala1553Thr) Both (homozygous) - benign g.10741080C>T g.10741082C>T - - PIEZO2_000163 - PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII3 PubMed: Bayam 2024 3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased M yes Sudan - 1d - - - 1 Johan den Dunnen
?/. - c.4734G>C r.(?) p.(Leu1578Phe) Unknown - VUS g.10736683C>G - PIEZO2(NM_022068.2):c.4659G>C (p.(Leu1553Phe)) - PIEZO2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4799G>A r.(?) p.(Arg1600Gln) Paternal (confirmed) ACMG VUS g.10736618C>T g.10736620C>T - - PIEZO2_000119 ACMG S3, PS4, PM2, PP4, BP4, BP6 PubMed: Kritioti 2021 - rs374051556 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat8 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
+/. - c.4981dup r.(?) p.(Arg1661LysfsTer27) Maternal (confirmed) - VUS g.10731459dup g.10731461= 4807dupA - PIEZO2_000127 variant shared with unaffected mother PubMed: Paul 2023, Journal: Paul 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat10 PubMed: Paul 2023, Journal: Paul 2023 patent ductus arteriosus,siblings with ADHD, dyslexia, tics; (aternal aunt with Ccerebral palsy Iintellectual disability hydrocephalus, aeizures) M - United States Europe - - - - 1 Johan den Dunnen
-?/. - c.4985C>G r.(?) p.(Ser1662Cys) Unknown - likely benign g.10731449G>C - PIEZO2(NM_022068.2):c.4811C>G (p.(Ser1604Cys)) - PIEZO2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5006G>A r.(?) p.(Arg1669Gln) Unknown - VUS g.10731428C>T g.10731430C>T - - PIEZO2_000030 - - - rs2865121 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam918 - - - - - - - - - - 2 Xiang Jiao
?/. - c.5006G>A r.(?) p.(Arg1669Gln) Unknown - VUS g.10731428C>T g.10731430C>T - - PIEZO2_000030 - - - rs2865121 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam1213 - - - - - - - - - - 1 Xiang Jiao
-?/. - c.5021C>T r.(?) p.(Ser1674Phe) Unknown - likely benign g.10731413G>A - PIEZO2(NM_022068.2):c.4847C>T (p.(Ser1616Phe)) - PIEZO2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5030-4206G>A r.(=) p.(=) Unknown - likely benign g.10722463C>T - PIEZO2(NM_001378183.1):c.5030-4206G>A - PIEZO2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5099_5101del r.(?) p.(Ile1700del) Unknown - VUS g.10715807_10715809del - PIEZO2(NM_001378183.1):c.5099_5101del (p.(Ile1700del)) - PIEZO2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5356G>A r.(?) p.(Gly1786Arg) Unknown - likely benign g.10714829C>T - PIEZO2(NM_022068.2):c.5182G>A (p.(Gly1728Arg)) - PIEZO2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5603G>A r.(?) p.(Cys1868Tyr) Unknown - likely benign g.10705730C>T - PIEZO2(NM_022068.2):c.5264G>A (p.(Cys1755Tyr)) - PIEZO2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6095T>C r.(?) p.(Val2032Ala) Unknown - VUS g.10704555A>G - PIEZO2(NM_022068.2):c.5756T>C (p.(Val1919Ala)) - PIEZO2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6153C>T r.(?) p.(Ala2051=) Unknown - likely benign g.10704497G>A - PIEZO2(NM_022068.3):c.5814C>T (p.A1938=) - PIEZO2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6392A>G r.(?) p.(Tyr2131Cys) Unknown - VUS g.10702036T>C - PIEZO2(NM_022068.2):c.6053A>G (p.(Tyr2018Cys)) - PIEZO2_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6400A>T r.(?) p.(Ile2134Phe) Unknown - VUS g.10702028T>A - PIEZO2(NM_001378183.1):c.6400A>T (p.(Ile2134Phe)) - PIEZO2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6475G>C r.(?) p.(Glu2159Gln) Unknown - VUS g.10699142C>G - PIEZO2(NM_001378183.1):c.6475G>C (p.(Glu2159Gln)), PIEZO2(NM_022068.4):c.6136G>C (p.E2046Q) - PIEZO2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6475G>C r.(?) p.(Glu2159Gln) Unknown - likely benign g.10699142C>G - PIEZO2(NM_001378183.1):c.6475G>C (p.(Glu2159Gln)), PIEZO2(NM_022068.4):c.6136G>C (p.E2046Q) - PIEZO2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6488C>A r.(?) p.(Ala2163Asp) Unknown - VUS g.10699129G>T g.10699131G>T - - PIEZO2_000020 - - - rs113682091 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam8 - - - - - - - - - - 2 Xiang Jiao
-?/. - c.6512T>C r.(?) p.(Leu2171Pro) Unknown - likely benign g.10699105A>G - PIEZO2(NM_022068.2):c.6173T>C (p.(Leu2058Pro)) - PIEZO2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6540C>T r.(?) p.(Ser2180=) Unknown - likely benign g.10699077G>A - PIEZO2(NM_022068.4):c.6201C>T (p.S2067=) - PIEZO2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6622C>T r.(?) p.(Arg2208Trp) Unknown - VUS g.10698995G>A - PIEZO2(NM_001378183.1):c.6622C>T (p.(Arg2208Trp)) - PIEZO2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6721C>T r.(?) p.(Gln2241Ter) Unknown - pathogenic g.10697852G>A g.10697854G>A - - PIEZO2_000056 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
?/. - c.6899C>G r.(?) p.(Thr2300Ser) Unknown - VUS g.10696466G>C - PIEZO2(NM_022068.2):c.6560C>G (p.(Thr2187Ser)) - PIEZO2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7001C>T r.(?) p.(Thr2334Ile) Unknown - likely pathogenic g.10696261G>A g.10696263G>A - - PIEZO2_000010 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.7001C>T r.(?) p.(Thr2334Ile) Parent #1 - likely pathogenic g.10696261G>A g.10696263G>A - - PIEZO2_000010 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.7007C>T r.(?) p.(Ser2336Leu) Unknown - likely pathogenic g.10696255G>A g.10696257G>A - - PIEZO2_000009 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.7191-1975_7191-1974dup r.(=) p.(=) Unknown - likely benign g.10693385_10693386dup - PIEZO2(NM_001378183.1):c.7191-1975_7191-1974dup - PIEZO2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7249G>T r.(?) p.(Gly2417Trp) Unknown - VUS g.10691323C>A - PIEZO2(NM_001378183.1):c.7249G>T (p.(Gly2417Trp)) - PIEZO2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7273T>C r.(?) p.(Cys2425Arg) Unknown - VUS g.10691299A>G - PIEZO2(NM_022068.2):c.6934T>C (p.(Cys2312Arg)) - PIEZO2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7326C>T r.(?) p.(Tyr2442=) Unknown - likely benign g.10691246G>A - PIEZO2(NM_022068.3):c.6987C>T (p.Y2329=) - PIEZO2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7331A>G r.(?) p.(Asn2444Ser) Unknown - VUS g.10691241T>C - PIEZO2(NM_001378183.1):c.7331A>G (p.(Asn2444Ser)) - PIEZO2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7406C>T r.(?) p.(Thr2469Met) Parent #1 - likely pathogenic g.10689744G>A g.10689746G>A - - PIEZO2_000012 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 5-generation family, 6 affecteds (F, 5M) - - - - - - - - 6 Johan den Dunnen
+/. - c.7406C>T r.(?) p.(Thr2469Met) Parent #1 ACMG pathogenic (dominant) g.10689744G>A g.10689746G>A - - PIEZO2_000012 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D15-1255 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+?/. - c.7406C>T r.(?) p.(Thr2469Met) Unknown - likely pathogenic g.10689744G>A - - - PIEZO2_000012 - - - rs878853137 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7726G>A r.(?) p.(Val2576Ile) Unknown - VUS g.10681711C>T g.10681714C>T - - PIEZO2_000054 - - - rs3748428 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam8 - - - - - - - - - - 2 Xiang Jiao
+/. - c.8019dup r.(?) p.(Thr2674Tyrfs*7) Unknown - pathogenic g.10677807dup - PIEZO2(NM_022068.4):c.7680dupT (p.T2561Yfs*7) - PIEZO2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8032A>G r.(?) p.(Ile2678Val) Unknown - likely benign g.10677793T>C - PIEZO2(NM_022068.2):c.7693A>G (p.(Ile2565Val)) - PIEZO2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8057G>A r.(?) p.(Arg2686His) Maternal (confirmed) - pathogenic (dominant) g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, affected mother daughter F - Germany - - - - - 2 Johan den Dunnen
+/. - c.8057G>A r.(?) p.(Arg2686His) Unknown - pathogenic (dominant) g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? Fam9mother PubMed: Falb 2023, Journal: Falb 2023 mother F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.8395C>T r.(?) p.(Arg2799Cys) Unknown - likely pathogenic g.10671727G>A g.10671730G>A - - PIEZO2_000005 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - MWKS - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Maternal (confirmed) - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline ? - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother, daugther and 2 sons - no - - - - - - 4 Marianne Vos (LOVD-team)
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo ? - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Marianne Vos (LOVD-team)
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Parent #1 - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Unknown - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Parent #1 - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA3 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Unknown - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+?/. - c.8396G>A r.(?) p.(Arg2799His) Unknown - likely pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.8396G>A r.(?) p.(Arg2799His) Unknown ACMG pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D15-1298 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.8396G>A r.(?) p.(Arg2799His) Unknown ACMG pathogenic g.10671726C>T g.10671729C>T - - PIEZO2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D16-0479 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+?/. - c.8492G>C r.(?) p.(Arg2831Pro) Unknown - likely pathogenic g.10671630C>G g.10671633C>G - - PIEZO2_000007 - PubMed: McMillin 2014, Journal: McMillin 2014 - - De novo - - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.8492G>T r.(?) p.(Arg2831Leu) Parent #1 - likely pathogenic g.10671630C>A g.10671633C>A - - PIEZO2_000003 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, 9 affecteds (6F, 3M) - - - - - - - - 9 Marianne Vos (LOVD-team)
+?/. - c.8492G>T r.(?) p.(Arg2831Leu) Parent #1 - likely pathogenic g.10671630C>A g.10671633C>A - - PIEZO2_000003 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 2-generation family, affected father/son M - - - - - - - 2 Johan den Dunnen
+/. - c.8520_8522del r.(?) p.(Glu2840del) Unknown - pathogenic g.10671606_10671608del g.10671609_10671611del - - PIEZO2_000015 - PubMed: Coste 2013 - - De novo ? - - - - DNA SEQ - - ? - PubMed: Coste 2013 - F ? - Unknown - - - Between the ages of 2–15 y, she required multiple orthopedic procedures on her hips, knees, and feet to improve function. 1 Marianne Vos (LOVD-team)
+?/. - c.8520_8522del r.(?) p.(Glu2840del) Parent #1 - likely pathogenic g.10671606_10671608del g.10671609_10671611del 8181_8183delAGA - PIEZO2_000004 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, 4 affecteds - - - - - - - - 4 Marianne Vos (LOVD-team)
+?/. - c.8520_8522del r.(?) p.(Glu2840del) Parent #1 - likely pathogenic g.10671606_10671608del g.10671609_10671611del 8181_8183delAGA - PIEZO2_000004 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, 3 affecteds (2F, M) - - - - - - - - 3 Johan den Dunnen
+?/. - c.8520_8522del r.(?) p.(Glu2840del) Parent #1 - likely pathogenic g.10671606_10671608del g.10671609_10671611del 8181_8183delAGA - PIEZO2_000004 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, affected father/son - - - - - - - - 2 Johan den Dunnen
+?/. - c.8520_8522del r.(?) p.(Glu2840del) Parent #1 - likely pathogenic g.10671606_10671608del g.10671609_10671611del 8181_8183delAGA - PIEZO2_000004 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, 3 affecteds (F, 2M) - - - - - - - - 3 Johan den Dunnen
+?/. - c.8520_8522del r.(?) p.(Glu2840del) Parent #1 - likely pathogenic g.10671606_10671608del g.10671609_10671611del 8181_8183delAGA - PIEZO2_000004 - PubMed: McMillin 2014, Journal: McMillin 2014 - - Germline yes - - - - DNA SEQ - - DA5 - PubMed: McMillin 2014, Journal: McMillin 2014 3-generation family, affected mother/son - - - - - - - - 2 Johan den Dunnen
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