Full data view for gene ENPP1

Information The variants shown are described using the NM_006208.2 transcript reference sequence.

498 entries on 5 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     
?/. 1 c.-24G>C r.(?) p.? Parent #1 ACMG VUS g.132129152G>C g.131808012G>C - - ENPP1_000091 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-24G>C r.(?) p.(=) Parent #2 ACMG pathogenic (recessive) g.132129152G>C g.131808012G>C c.[1026-59_1026-10del;-24G>C] - ENPP1_000091 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. _1_25_ c.-20_*4644{0} r.0 p.0 Parent #1 ACMG pathogenic (recessive) g.(?_132129156)_(132216295_?)del g.(?_131808016)_(131895155_?)del del gene - ENPP1_000075 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_25_ c.-20_*4644{0} r.0 p.0 Parent #2 ACMG pathogenic (recessive) g.132009777_132536148del g.131688637_132215008del - - ENPP1_000075 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.26dup r.(?) p.(Gly10Argfs*67) Both (homozygous) ACMG pathogenic (recessive) g.132129201dup g.131808061dup - - ENPP1_000087 - - - - Germline - - - - - DNA SEQ - - ARHR2, GACI1 - - - - - - - - - - - 1 Stephanie Mercurio
+/. 1 c.26dup r.(?) p.Gly10Argfs*67 Parent #1 ACMG pathogenic (recessive) g.132129201dup g.131808061dup - - ENPP1_000087 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.26dup r.(?) p.(Gly10ArgfsTer67) Parent #1 ACMG pathogenic (recessive) g.132129201dup g.131808061dup - - ENPP1_000087 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.26dup r.(?) p.(Gly10ArgfsTer67) Parent #2 ACMG pathogenic (recessive) g.132129201dup g.131808061dup - - ENPP1_000087 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.130C>T r.(?) p.Gln44* Parent #1 ACMG pathogenic (recessive) g.132129305C>T g.131808165C>T - - ENPP1_000092 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.130C>T r.(?) p.(Gln44Ter) Parent #1 ACMG pathogenic (recessive) g.132129305C>T g.131808165C>T - - ENPP1_000092 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.165G>A r.(?) p.(Val55=) Unknown - likely benign g.132129340G>A g.131808200G>A - - ENPP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196_197del r.(?) p.(Ala66Profs*10) Maternal (confirmed) ACMG pathogenic (recessive) g.132129371_132129372del g.131808231_131808232del - - ENPP1_000071 - - - - Germline - - - - - DNA SEQ - - GACI1 - - - - - - - - - - - 1 Stephanie Mercurio
+/. - c.196_197del r.(?) p.(Ala66Profs*10) Unknown ACMG pathogenic (recessive) g.132129371_132129372del g.131808231_131808232del - - ENPP1_000071 - - - - Germline - - - - - DNA SEQ - - ARHR2, GACI1 - - - - - - - - - - - 1 Stephanie Mercurio
+/. 1 c.196_197del r.(?) p.Ala66Profs*10 Parent #1 ACMG pathogenic (recessive) g.132129371_132129372del g.131808231_131808232del - - ENPP1_000071 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.196_197del r.(?) p.(Ala66ProfsTer10) Parent #1 ACMG pathogenic (recessive) g.132129371_132129372del g.131808231_131808232del - - ENPP1_000071 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.196_197del r.(?) p.(Ala66ProfsTer10) Parent #1 ACMG pathogenic (recessive) g.132129371_132129372del g.131808231_131808232del - - ENPP1_000071 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.208A>T r.(?) p.Lys70* Parent #1 ACMG pathogenic (recessive) g.132129383A>T g.131808243A>T - - ENPP1_000077 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.208A>T r.(?) p.(Lys70Ter) Parent #1 ACMG pathogenic (recessive) g.132129383A>T g.131808243A>T - - ENPP1_000077 no variant 2nd chromosome PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.228A>C r.(?) p.(Lys76Asn) Unknown - VUS g.132129403A>C - ENPP1(NM_006208.3):c.228A>C (p.(Lys76Asn)) - ENPP1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233T>C r.(?) p.(Leu78Pro) Unknown - VUS g.132129408T>C - ENPP1(NM_006208.3):c.233T>C (p.(Leu78Pro)) - ENPP1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+11766T>G r.(=) p.(=) Unknown - likely benign g.132141181T>G - ENPP1(NM_006208.3):c.240+11766T>G - ENPP1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.241G>T r.spl? p.Val81Leu Parent #1 ACMG VUS g.132168916G>T g.131847776G>T - - ENPP1_000093 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.241G>T r.spl? p.(Val81Leu) Both (homozygous) ACMG VUS g.132168916G>T g.131847776G>T - - ENPP1_000093 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - HR - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.275G>A r.(?) p.Gly92Asp Parent #1 ACMG VUS g.132168950G>A g.131847810G>A - - ENPP1_000094 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.275G>A r.(?) p.(Gly92Asp) Parent #1 ACMG VUS g.132168950G>A g.131847810G>A - - ENPP1_000094 - PubMed: Steichen-Gersdorf 2015 - - Germline - - - - - DNA SEQ - - HR Pat1 PubMed: Steichen-Gersdorf 2015 - - - Austria - - - - - 1 Johan den Dunnen
+/. 2 c.288del r.(?) p.Leu97* Parent #1 ACMG pathogenic (recessive) g.132168963del g.131847823del - - ENPP1_000095 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.288del r.(?) p.(Leu97Ter) Parent #1 ACMG pathogenic (recessive) g.132168963del g.131847823del - - ENPP1_000095 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Rutsch 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.313+8_313+9insTT r.(=) p.(=) Unknown - likely benign g.132168996_132168997insTT - ENPP1(NM_006208.3):c.313+8_313+9insTT, ENPP1(NM_006208.3):c.313+9_313+12delGTGTinsTTGTGT - ENPP1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313+8_313+9insTT r.(=) p.(=) Unknown - VUS g.132168996_132168997insTT - ENPP1(NM_006208.3):c.313+8_313+9insTT, ENPP1(NM_006208.3):c.313+9_313+12delGTGTinsTTGTGT - ENPP1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+8_313+9insTTGT r.(=) p.(=) Unknown - likely benign g.132168996_132168997insTTGT - ENPP1(NM_006208.3):c.313+8_313+9insTTGT - ENPP1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+9del r.(=) p.(=) Unknown - likely benign g.132168997del g.131847857del ENPP1(NM_006208.2):c.313+9del (p.(=)) - ENPP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+9del r.(=) p.(=) Unknown - likely benign g.132168997del g.131847857del ENPP1(NM_006208.2):c.313+9del (p.(=)) - ENPP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+41_313+46dup r.(=) p.(=) Unknown - likely benign g.132169029_132169034dup g.131847889_131847894dup ENPP1(NM_006208.3):c.313+39_313+44dupGTGTGT, ENPP1(NM_006208.3):c.313+41_313+46dupGTGTGT - ENPP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+41_313+46dup r.(=) p.(=) Unknown - likely benign g.132169029_132169034dup - ENPP1(NM_006208.3):c.313+39_313+44dupGTGTGT, ENPP1(NM_006208.3):c.313+41_313+46dupGTGTGT - ENPP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+43_313+46del r.(=) p.(=) Unknown - likely benign g.132169031_132169034del - ENPP1(NM_006208.3):c.313+43_313+46delGTGT - ENPP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313+43_313+46dup r.(=) p.(=) Unknown - benign g.132169031_132169034dup g.131847891_131847894dup ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT - ENPP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+43_313+46dup r.(=) p.(=) Unknown - likely benign g.132169031_132169034dup g.131847891_131847894dup ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT - ENPP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313+43_313+46dup r.(=) p.(=) Unknown - benign g.132169031_132169034dup - ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT - ENPP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313+45_313+46del r.(=) p.(=) Unknown - benign g.132169033_132169034del - ENPP1(NM_006208.3):c.313+45_313+46delGT - ENPP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+45_313+46dup r.(=) p.(=) Unknown - likely benign g.132169033_132169034dup g.131847893_131847894dup ENPP1(NM_006208.3):c.313+45_313+46dupGT - ENPP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313+45_313+46dup r.(=) p.(=) Unknown - likely benign g.132169033_132169034dup - ENPP1(NM_006208.3):c.313+45_313+46dupGT - ENPP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.314-4dup r.spl? p.? Unknown - likely benign g.132171126dup - ENPP1(NM_006208.3):c.314-4dupT - ENPP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.323G>T r.(?) p.Cys108Phe Parent #1 ACMG likely pathogenic (recessive) g.132171139G>T g.131849999G>T - - ENPP1_000096 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.323G>T r.(?) p.(Cys108Phe) Parent #1 ACMG likely pathogenic (recessive) g.132171139G>T g.131849999G>T - - ENPP1_000096 - PubMed: Kotwal 2021 - - Germline - - - - - DNA SEQ - - HR FamPatII2 PubMed: Kotwal 2021 2-generation family, 2 affected sisters F - United States - - - - - 2 Johan den Dunnen
+?/. 3 c.323G>T r.(?) p.(Cys108Phe) Parent #1 ACMG likely pathogenic (recessive) g.132171139G>T g.131849999G>T - - ENPP1_000096 - PubMed: Kotwal 2021 - - Germline - - - - - DNA SEQ - - HR FamPatII4 PubMed: Kotwal 2021 sister F - United States - - - - - 1 Johan den Dunnen
?/. - c.361C>T r.(?) p.(Arg121Cys) Unknown - VUS g.132171177C>T - ENPP1(NM_006208.3):c.361C>T (p.R121C) - ENPP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.376T>C r.(?) p.Cys126Arg Parent #1 ACMG likely pathogenic (recessive) g.132171192T>C g.131850052T>C - - ENPP1_000097 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.376T>C r.(?) p.(Cys126Arg) Parent #1 ACMG likely pathogenic (recessive) g.132171192T>C g.131850052T>C - - ENPP1_000097 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - CAGI Fam7 PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - - Canada - - - - - 1 Johan den Dunnen
+/. 3i c.430+2T>C r.spl? p.? Paternal (confirmed) - pathogenic (recessive) g.132171248T>C g.131850108T>C - - ENPP1_000027 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United Kingdom (Great Britain) - 1d - - - 2 Yvonne Nitschke
+/. 3i c.430+2T>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.132171248T>C g.131850108T>C - - ENPP1_000027 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468del r.(?) p.(Arg158GlyfsTer2) Unknown - VUS g.132172319del g.131851179del ENPP1(NM_006208.2):c.468delG (p.(Arg158fs)) - ENPP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.484A>G r.(?) p.Ser162Gly Parent #1 ACMG VUS g.132172335A>G g.131851195A>G - - ENPP1_000098 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.484A>G r.(?) p.(Ser162Gly) Parent #1 ACMG VUS g.132172335A>G g.131851195A>G - - ENPP1_000098 no variant 2nd chromosome PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.511A>T r.(?) p.Lys171* Parent #1 ACMG pathogenic (recessive) g.132172362A>T g.131851222A>T - - ENPP1_000080 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.511A>T r.(?) p.(Lys171Ter) Parent #1 ACMG pathogenic (recessive) g.132172362A>T g.131851222A>T - - ENPP1_000080 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+?/. 4 c.517A>C r.(?) p.(Lys173Gln) Unknown - likely pathogenic g.132172368A>C g.131851228A>C K121Q - ENPP1_000035 - PubMed: Sharafshah 2018 - rs1044498 Unknown - 121/437 controls - - - DNA TaqMan blood - Healthy/Control controls, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - 121 Jilani Jawaid
+?/. 4 c.517A>C r.(?) p.(Lys173Gln) Unknown - likely pathogenic g.132172368A>C g.131851228A>C K121Q - ENPP1_000035 - PubMed: Sharafshah 2018 - rs1044498 Unknown - 215/533 cases NIDDM - - - DNA TaqMan blood - NIDDM cases, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - see paper 215 Jilani Jawaid
+?/. 4 c.517A>C r.(?) p.(Lys173Gln) Both (homozygous) - likely pathogenic g.132172368A>C g.131851228A>C K121Q - ENPP1_000035 - PubMed: Sharafshah 2018 - rs1044498 Unknown - 20/437 controls - - - DNA TaqMan blood - Healthy/Control controls, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - 20 Jilani Jawaid
+?/. 4 c.517A>C r.(?) p.(Lys173Gln) Both (homozygous) - likely pathogenic g.132172368A>C g.131851228A>C K121Q - ENPP1_000035 - PubMed: Sharafshah 2018 - rs1044498 Unknown - 17/533 cases NIDDM - - - DNA TaqMan blood - NIDDM cases, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - See paper 17 Jilani Jawaid
+?/. - c.517A>C r.(?) p.Lys173Gln Unknown - NA g.132172368A>C g.131851228A>C - - ENPP1_000035 cDNA expression cloning HEK293/COS7 cells, 0.66 NPP enzyme activity/0.63 PPi generation, localisation plasma membrane PubMed: Stella 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.517A>C r.(?) p.(Lys173Gln) Unknown - benign g.132172368A>C - ENPP1(NM_006208.3):c.517A>C (p.(Lys173Gln), p.K173Q) - ENPP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.517A>C r.(?) p.(Lys173Gln) Unknown - benign g.132172368A>C - ENPP1(NM_006208.3):c.517A>C (p.(Lys173Gln), p.K173Q) - ENPP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.556G>C r.spl? p.Gly186Arg Parent #1 ACMG likely pathogenic (recessive) g.132172407G>C g.131851267G>C - - ENPP1_000099 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.556G>C r.spl? p.(Gly186Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.132172407G>C g.131851267G>C - - ENPP1_000099 - PubMed: Staretz-Chacham 2019 - - Germline - - - - - DNA SEQ - - CAGI FamAPatII1 PubMed: Staretz-Chacham 2019 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - Israel - - - - - 3 Johan den Dunnen
+?/. 4 c.556G>C r.spl? p.(Gly186Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.132172407G>C g.131851267G>C - - ENPP1_000099 - PubMed: Staretz-Chacham 2019 - - Germline - - - - - DNA SEQ - - CAGI FamAPatII2 PubMed: Staretz-Chacham 2019 sister F - Israel - - - - - 1 Johan den Dunnen
+?/. 4 c.556G>C r.spl? p.(Gly186Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.132172407G>C g.131851267G>C - - ENPP1_000099 - PubMed: Staretz-Chacham 2019 - - Germline - - - - - DNA SEQ - - CAGI FamAPatII3 PubMed: Staretz-Chacham 2019 brother M - Israel - - - - - 1 Johan den Dunnen
+?/. 4 c.556G>C r.spl? p.(Gly186Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.132172407G>C g.131851267G>C - - ENPP1_000099 - PubMed: Staretz-Chacham 2019 - - Germline - - - - - DNA SEQ - - CAGI FamBPatII2 PubMed: Staretz-Chacham 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel - - - - - 1 Johan den Dunnen
?/. - c.557-343A>T r.(=) p.(=) Unknown - VUS g.132172972A>T - ENPP1(NM_006208.3):c.557-343A>T - ENPP1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.557-2A>G r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.132173313A>G g.131852173A>G - - ENPP1_000089 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 4m - - - 2 Yvonne Nitschke
+/. 4i c.557-2A>G r.spl p.? Parent #1 ACMG pathogenic (recessive) g.132173313A>G g.131852173A>G - - ENPP1_000089 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.570G>T r.(?) p.Trp190Cys Parent #1 ACMG VUS g.132173328G>T g.131852188G>T - - ENPP1_000081 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.570G>T r.(?) p.(Trp190Cys) Parent #2 ACMG VUS g.132173328G>T g.131852188G>T - - ENPP1_000081 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.574del r.(?) p.Glu192Lysfs*47 Parent #1 ACMG pathogenic (recessive) g.132173332del g.131852192del - - ENPP1_000082 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.574del r.(?) p.(Glu192LysfsTer47) Parent #2 ACMG pathogenic (recessive) g.132173332del g.131852192del - - ENPP1_000082 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.583T>A r.(?) p.(Cys195Ser) Maternal (confirmed) - pathogenic (recessive) g.132173341T>A g.131852201T>A - - ENPP1_000029 - PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs M no France - 0d - - - 1 Yvonne Nitschke
+/. - c.583T>A r.(?) p.Cys195Ser Unknown - NA g.132173341T>A g.131852201T>A - - ENPP1_000029 cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane PubMed: Stella 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.583T>A r.(?) p.Cys195Ser Parent #1 ACMG likely pathogenic (recessive) g.132173341T>A g.131852201T>A - - ENPP1_000029 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Both (homozygous) - pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 - PubMed: Edouard 2011, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Edouard 2011, PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs F no France French Canadian - - - - 1 Yvonne Nitschke
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Both (homozygous) - pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 - PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected twin pair, 1 unaffected sibs M no France French Canadian 3d - - - 2 Yvonne Nitschke
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Paternal (confirmed) - pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 unknown variant 2nd allele PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no France white 26d - - - 2 Yvonne Nitschke
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Paternal (confirmed) - pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 unknown variant 2nd allele PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 sister Fam3Pat3 F no France white 1d - - - 1 Yvonne Nitschke
+/. - c.583T>C r.(?) p.Cys195Arg Unknown - NA g.132173341T>C g.131852201T>C - - ENPP1_000004 cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane PubMed: Stella 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.583T>C r.(?) p.Cys195Arg Parent #1 ACMG pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Parent #1 ACMG pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - HR - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.583T>C r.(?) p.(Cys195Arg) Parent #2 ACMG pathogenic (recessive) g.132173341T>C g.131852201T>C - - ENPP1_000004 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 5i_6i c.(617+1_618-1)_(715+1_716-1)del r.? p.? Parent #1 ACMG pathogenic (recessive) g.(132173376_132176065)_(132176164_132179807)del g.(131852236_131854925)_(131855024_131858667)del del ex6 - LAMA2_000000 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i_6i c.(617+1_618-1)_(715+1_716-1)del r.? p.? Parent #2 ACMG pathogenic (recessive) g.(132173376_132176065)_(132176164_132179807)del g.(131852236_131854925)_(131855024_131858667)del del ex6 - LAMA2_000000 - PubMed: Ferreira2021, PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - CAGI Pat5;Pat3 PubMed: Ferreira2021, PubMed: Ferreira2021 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.647C>A r.(?) p.Ser216Tyr Parent #1 ACMG VUS g.132176095C>A g.131854955C>A - - ENPP1_000100 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.647C>A r.(?) p.(Ser216Tyr) Both (homozygous) ACMG VUS g.132176095C>A g.131854955C>A - - ENPP1_000100 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Rutsch 2008 - - - - - - - - - 1 Johan den Dunnen
+?/. 6 c.653A>T r.(?) p.Asp218Val Parent #1 ACMG likely pathogenic (recessive) g.132176101A>T g.131854961A>T - - ENPP1_000101 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.653A>T r.(?) p.(Asp218Val) Both (homozygous) ACMG likely pathogenic (recessive) g.132176101A>T g.131854961A>T - - ENPP1_000101 - PubMed: Galetti 2011 - - Germline - - - - - DNA SEQ - - CAGI patient PubMed: Galetti 2011 - - - Italy - - - - - 1 Johan den Dunnen
+?/. 6 c.653A>T r.(?) p.(Asp218Val) Both (homozygous) ACMG likely pathogenic (recessive) g.132176101A>T g.131854961A>T - - ENPP1_000101 - PubMed: Otero 2013 - - Germline - - - - - DNA SEQ - - CAGI patient PubMed: Otero 2013 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.655G>A r.(?) p.Gly219Arg Parent #1 ACMG VUS g.132176103G>A g.131854963G>A - - ENPP1_000102 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.655G>A r.(?) p.(Gly219Arg) Parent #2 ACMG pathogenic (recessive) g.132176103G>A g.131854963G>A c.[2375A>G;655G>A] - ENPP1_000102 - PubMed: Steichen-Gersdorf 2015 - - Germline - - - - - DNA SEQ - - HR Pat2 PubMed: Steichen-Gersdorf 2015 - - - Austria - - - - - 1 Johan den Dunnen
+/. - c.665C>A r.(?) p.(Ala222Glu) Both (homozygous) ACMG VUS g.132176113C>A - - - ENPP1_000088 - - - - Germline - - - - - DNA SEQ - - GACI1 - - - - - - - - - - - 1 Stephanie Mercurio
?/. 6 c.665C>A r.(?) p.Ala222Glu Parent #1 ACMG VUS g.132176113C>A g.131854973C>A - - ENPP1_000088 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.665C>A r.(?) p.(Ala222Glu) Both (homozygous) ACMG VUS g.132176113C>A g.131854973C>A - - ENPP1_000088 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 6i c.715+1G>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.132176164G>C g.131855024G>C - - ENPP1_000103 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.715+1G>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.132176164G>C g.131855024G>C - - ENPP1_000103 - PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - CAGI Pat16 PubMed: Ferreira2021 - - - United States - - - - - 1 Johan den Dunnen
+/. 6i c.715+1G>C r.spl p.? Parent #1 ACMG pathogenic (recessive) g.132176164G>C g.131855024G>C - - ENPP1_000103 - PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - HR Pat17 PubMed: Ferreira2021 - - - United States - - - - - 1 Johan den Dunnen
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