Full data view for gene SPTBN5

Information The variants shown are described using the NM_016642.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

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Methylation     

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Technique     

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ID_report     

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Remarks     

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?/. 46 c.? r.(?) p.? Unknown - VUS g.42153670A>G - c.7762T>C - SPTBN5_000014 T not found at position 7990, found A instead. PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.37G>A r.(?) p.(Gly13Arg) Unknown - VUS g.42185659C>T - SPTBN5(NM_016642.3):c.37G>A (p.(Gly13Arg)) - JMJD7-PLA2G4B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218C>T r.(?) p.(Ala73Val) Unknown - VUS g.42185258G>A g.41893060G>A SPTBN5(NM_016642.2):c.113C>T (p.?) - SPTBN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018G>A r.(?) p.(Ala340Thr) Unknown - likely benign g.42178435C>T - SPTBN5(NM_016642.3):c.1018G>A (p.(Ala340Thr)) - JMJD7-PLA2G4B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1076G>A r.(?) p.(Arg359Gln) Unknown - likely benign g.42178377C>T - SPTBN5(NM_016642.4):c.1076G>A (p.R359Q) - JMJD7-PLA2G4B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1144C>T r.(?) p.(Arg382Cys) Parent #2 - likely pathogenic g.42178309G>A g.41886111G>A - - SPTBN5_000013 genotype-phenotype correlation: two missense variants in an individual with moderate phenotype (Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors - ROHHADNET syndrome) PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
?/. - c.1199G>C r.(?) p.(Trp400Ser) Unknown - VUS g.42178254C>G - SPTBN5(NM_016642.4):c.1199G>C (p.W400S) - JMJD7-PLA2G4B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286G>A r.(?) p.(Arg429Gln) Unknown - likely benign g.42178167C>T g.41885969C>T SPTBN5(NM_016642.4):c.1286G>A (p.R429Q) - SPTBN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1289G>A r.(?) p.(Arg430His) Unknown - likely benign g.42178164C>T g.41885966C>T SPTBN5(NM_016642.4):c.1289G>A (p.R430H) - JMJD7-PLA2G4B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1330G>A r.(?) p.(Asp444Asn) Unknown - VUS g.42178123C>T g.41885925C>T SPTBN5(NM_016642.2):c.1225G>A (p.(Asp409Asn)) - SPTBN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1445G>A r.(?) p.(Arg482His) Unknown - VUS g.42178008C>T - SPTBN5(NM_016642.4):c.1445G>A (p.R482H) - JMJD7-PLA2G4B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1540C>T r.(?) p.(Arg514Cys) Unknown - VUS g.42175665G>A - SPTBN5(NM_016642.3):c.1540C>T (p.(Arg514Cys)) - JMJD7-PLA2G4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1984G>A r.(?) p.(Val662Met) Unknown - VUS g.42174845C>T - SPTBN5(NM_016642.4):c.1984G>A (p.(Val662Met)) - JMJD7-PLA2G4B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1985T>C r.(?) p.(Val662Ala) Unknown - likely benign g.42174844A>G - SPTBN5(NM_016642.4):c.1985T>C (p.V662A) - JMJD7-PLA2G4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2166C>A r.(?) p.(Ala722=) Unknown - likely benign g.42174548G>T g.41882350G>T SPTBN5(NM_016642.4):c.2166C>A (p.A722=) - SPTBN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2320G>C r.(?) p.(Gly774Arg) Unknown - likely benign g.42174271C>G - SPTBN5(NM_016642.3):c.2320G>C (p.(Gly774Arg)) - JMJD7-PLA2G4B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3752G>A r.(?) p.(Arg1251Gln) Unknown - likely benign g.42169106C>T - SPTBN5(NM_016642.4):c.3752G>A (p.R1251Q) - JMJD7-PLA2G4B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3828_3850del r.(?) p.(Gln1276HisfsTer21) Unknown - VUS g.42169010_42169032del g.41876812_41876834del SPTBN5(NM_016642.2):c.3723_3745del (p.(Gln1276HisfsTer21)) - SPTBN5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4016A>T r.(?) p.(His1339Leu) Unknown - likely benign g.42168418T>A - SPTBN5(NM_016642.3):c.4016A>T (p.(His1339Leu)), SPTBN5(NM_016642.4):c.4016A>T (p.H1339L) - JMJD7-PLA2G4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4016A>T r.(?) p.(His1339Leu) Unknown - likely benign g.42168418T>A - SPTBN5(NM_016642.3):c.4016A>T (p.(His1339Leu)), SPTBN5(NM_016642.4):c.4016A>T (p.H1339L) - JMJD7-PLA2G4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4031C>T r.(?) p.(Ala1344Val) Unknown - likely benign g.42168403G>A - SPTBN5(NM_016642.3):c.4031C>T (p.(Ala1344Val)) - JMJD7-PLA2G4B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4100G>C r.(?) p.(Arg1367Thr) Unknown - likely benign g.42168334C>G - SPTBN5(NM_016642.4):c.4100G>C (p.(Arg1367Thr)) - JMJD7-PLA2G4B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4160A>G r.(?) p.(Gln1387Arg) Unknown - likely benign g.42167783T>C g.41875585T>C SPTBN5(NM_016642.4):c.4160A>G (p.Q1387R) - JMJD7-PLA2G4B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4667A>G r.(?) p.(Gln1556Arg) Unknown - likely benign g.42166512T>C g.41874314T>C SPTBN5(NM_016642.4):c.4667A>G (p.Q1556R) - SPTBN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5078C>T r.(?) p.(Thr1693Ile) Unknown - VUS g.42164587G>A - NM_016642:c.C5078T (T1693I) - SPTBN5_000017 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0543 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.5138G>A r.(?) p.(Arg1713Gln) Unknown - likely benign g.42164527C>T - SPTBN5(NM_016642.4):c.5138G>A (p.R1713Q) - JMJD7-PLA2G4B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 31 c.5647C>T r.(?) p.(Arg1883*) Unknown - VUS g.42162467G>A - c.5647C>T - SPTBN5_000016 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-645 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.5822G>A r.(?) p.(Arg1941Gln) Unknown - VUS g.42162070C>T - SPTBN5(NM_016642.4):c.5822G>A (p.(Arg1941Gln)) - JMJD7-PLA2G4B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5867C>T r.(?) p.(Ala1956Val) Unknown - likely benign g.42160786G>A - SPTBN5(NM_016642.3):c.5867C>T (p.(Ala1956Val)) - JMJD7-PLA2G4B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely benign g.42160355C>T - SPTBN5(NM_016642.4):c.6119G>A (p.R2040Q) - JMJD7-PLA2G4B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 38 c.6751C>A r.(?) p.(Leu2251Met) Unknown - VUS g.42158307G>T - c.6751C>A - SPTBN5_000015 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-93 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
-?/. - c.7050T>C r.(?) p.(His2350=) Unknown - likely benign g.42156001A>G - SPTBN5(NM_016642.4):c.7050T>C (p.H2350=) - JMJD7-PLA2G4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7081G>A r.(?) p.(Glu2361Lys) Unknown - VUS g.42155970C>T g.41863772C>T SPTBN5(NM_016642.4):c.7081G>A (p.E2361K) - JMJD7-PLA2G4B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7317C>T r.(?) p.(His2439=) Unknown - likely benign g.42154805G>A - SPTBN5(NM_016642.4):c.7317C>T (p.H2439=) - JMJD7-PLA2G4B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7437G>A r.(?) p.(Leu2479=) Unknown - likely benign g.42154439C>T - SPTBN5(NM_016642.4):c.7437G>A (p.L2479=) - JMJD7-PLA2G4B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7856A>G r.(?) p.(Lys2619Arg) Unknown - VUS g.42152916T>C - SPTBN5(NM_016642.4):c.7856A>G (p.(Lys2619Arg)) - JMJD7-PLA2G4B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7917C>T r.(?) p.(Ala2639=) Unknown - likely benign g.42152855G>A g.41860657G>A SPTBN5(NM_016642.4):c.7917C>T (p.A2639=) - SPTBN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7921G>A r.(?) p.(Gly2641Ser) Both (homozygous) - VUS g.42152851C>T g.41860653C>T NM_016642:c.7921G>A - SPTBN5_000018 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII2 PubMed: Chatron 2020 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives M yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.7921G>A r.(?) p.(Gly2641Ser) Both (homozygous) - VUS g.42152851C>T g.41860653C>T NM_016642:c.7921G>A - SPTBN5_000018 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII1 PubMed: Chatron 2020 brother M yes Turkey - 9d - - - 1 Johan den Dunnen
?/. - c.8181G>C r.(?) p.(Gln2727His) Unknown - VUS g.42150845C>G - SPTBN5(NM_016642.3):c.8181G>C (p.(Gln2727His)) - JMJD7-PLA2G4B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8809A>T r.(?) p.(Asn2937Tyr) Unknown - VUS g.42148796T>A g.41856598T>A SPTBN5(NM_016642.2):c.8704A>T (p.?) - SPTBN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9089G>T r.(?) p.(Ser3030Ile) Unknown - VUS g.42147876C>A - SPTBN5(NM_016642.4):c.9089G>T (p.S3030I) - JMJD7-PLA2G4B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9094G>A r.(?) p.(Glu3032Lys) Unknown - likely benign g.42147871C>T - SPTBN5(NM_016642.4):c.9094G>A (p.E3032K) - JMJD7-PLA2G4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.9334C>T r.(?) p.(Arg3112Ter) Parent #1 - likely pathogenic g.42147511G>A g.41855313G>A - - SPTBN5_000012 genotype-phenotype correlation: two missense variants in an individual with moderate phenotype (Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors - ROHHADNET syndrome) PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
-?/. - c.9355G>A r.(?) p.(Ala3119Thr) Unknown - likely benign g.42147490C>T - SPTBN5(NM_016642.4):c.9355G>A (p.A3119T) - JMJD7-PLA2G4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9500A>G r.(?) p.(Lys3167Arg) Unknown - likely benign g.42147098T>C - SPTBN5(NM_016642.4):c.9500A>G (p.K3167R) - JMJD7-PLA2G4B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 56 c.9520dup r.(?) p.(Arg3174Profs*18) Both (homozygous) - likely pathogenic g.42147078dup g.41854880dup - - SPTBN5_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes - - - - - - 1 Danielle Bosch
?/. - c.9520dup r.(?) p.(Arg3174Profs*18) Unknown - VUS g.42147078dup - SPTBN5(NM_016642.4):c.9520dupC (p.R3174Pfs*18) - SPTBN5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9566G>T r.(?) p.(Arg3189Leu) Unknown - VUS g.42147032C>A - SPTBN5(NM_016642.3):c.9566G>T (p.(Arg3189Leu)) - JMJD7-PLA2G4B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9594C>G r.(?) p.(Asp3198Glu) Unknown - likely benign g.42147004G>C - SPTBN5(NM_016642.4):c.9594C>G (p.(Asp3198Glu)) - JMJD7-PLA2G4B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9595C>T r.(?) p.(Gln3199*) Unknown - VUS g.42147003G>A - SPTBN5(NM_016642.4):c.9595C>T (p.(Gln3199*)) - JMJD7-PLA2G4B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9695C>T r.(?) p.(Thr3232Met) Unknown - likely benign g.42146327G>A - SPTBN5(NM_016642.4):c.9695C>T (p.T3232M) - JMJD7-PLA2G4B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9784G>A r.(?) p.(Glu3262Lys) Unknown - likely benign g.42145976C>T - SPTBN5(NM_016642.3):c.9784G>A (p.(Glu3262Lys)) - JMJD7-PLA2G4B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9830G>A r.(?) p.(Arg3277Gln) Unknown - likely benign g.42145930C>T - SPTBN5(NM_016642.3):c.9830G>A (p.(Arg3277Gln)) - JMJD7-PLA2G4B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10033G>A r.(?) p.(Asp3345Asn) Unknown - likely benign g.42145593C>T - SPTBN5(NM_016642.4):c.10033G>A (p.D3345N) - JMJD7-PLA2G4B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10202G>A r.(?) p.(Arg3401Gln) Unknown - VUS g.42145167C>T - SPTBN5(NM_016642.4):c.10202G>A (p.(Arg3401Gln)) - JMJD7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10263C>T r.(?) p.(Gly3421=) Unknown - likely benign g.42145106G>A g.41852908G>A SPTBN5(NM_016642.4):c.10263C>T (p.G3421=) - JMJD7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10286T>C r.(?) p.(Leu3429Pro) Unknown - VUS g.42145083A>G g.41852885A>G SPTBN5(NM_016642.4):c.10286T>C (p.L3429P) - JMJD7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10765C>G r.(?) p.(Leu3589Val) Unknown - VUS g.42143327G>C g.41851129G>C SPTBN5(NM_016642.4):c.10765C>G (p.L3589V) - JMJD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10875C>T r.(?) p.(Ser3625=) Unknown - likely benign g.42143098G>A g.41850900G>A SPTBN5(NM_016642.4):c.10875C>T (p.S3625=) - JMJD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*939T>C r.(=) p.(=) Unknown - benign g.42139875A>G g.41847677A>G JMJD7-PLA2G4B(NM_001198588.1):c.2669A>G (p.Q890R) - JMJD7-PLA2G4B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*951G>A r.(=) p.(=) Unknown - benign g.42139863C>T g.41847665C>T JMJD7-PLA2G4B(NM_001198588.1):c.2657C>T (p.P886L) - JMJD7-PLA2G4B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2242G>A r.(=) p.(=) Unknown - benign g.42138572C>T g.41846374C>T JMJD7-PLA2G4B(NM_005090.3):c.2465C>T (p.T822I) - JMJD7-PLA2G4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2392A>C r.(=) p.(=) Unknown - VUS g.42138422T>G g.41846224T>G JMJD7-PLA2G4B(NM_001198588.1):c.2315T>G (p.(Leu772Arg)) - JMJD7-PLA2G4B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2404T>C r.(=) p.(=) Unknown - VUS g.42138410A>G g.41846212A>G JMJD7-PLA2G4B(NM_001198588.1):c.2303A>G (p.(Gln768Arg)) - JMJD7-PLA2G4B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2557C>T r.(=) p.(=) Unknown - benign g.42138257G>A g.41846059G>A JMJD7-PLA2G4B(NM_005090.3):c.2293+12G>A - JMJD7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2684G>A r.(=) p.(=) Unknown - benign g.42138130C>T g.41845932C>T JMJD7-PLA2G4B(NM_005090.3):c.2189-11C>T - JMJD7-PLA2G4B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3428G>A r.(=) p.(=) Unknown - benign g.42137386C>T g.41845188C>T JMJD7-PLA2G4B(NM_005090.3):c.1933-15C>T - JMJD7-PLA2G4B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3598C>G r.(=) p.(=) Unknown - benign g.42137216G>C g.41845018G>C JMJD7-PLA2G4B(NM_005090.3):c.1880G>C (p.S627T) - JMJD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3613C>T r.(=) p.(=) Unknown - benign g.42137201G>A g.41845003G>A JMJD7-PLA2G4B(NM_005090.3):c.1865G>A (p.R622H) - JMJD7-PLA2G4B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3662C>A r.(=) p.(=) Unknown - VUS g.42137152G>T g.41844954G>T JMJD7-PLA2G4B(NM_001198588.1):c.1816G>T (p.(Ala606Ser)) - JMJD7-PLA2G4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3693G>C r.(=) p.(=) Unknown - likely benign g.42137121C>G - JMJD7-PLA2G4B(NM_005090.3):c.1785C>G (p.T595=), PLA2G4B(NM_001114633.1):c.1092C>G (p.T364=) - JMJD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6398G>A r.(=) p.(=) Unknown - benign g.42134416C>T g.41842218C>T JMJD7-PLA2G4B(NM_005090.3):c.1340C>T (p.A447V) - JMJD7-PLA2G4B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7096G>A r.(=) p.(=) Unknown - benign g.42133718C>T g.41841520C>T JMJD7-PLA2G4B(NM_005090.3):c.1132C>T (p.R378W) - JMJD7-PLA2G4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8023G>A r.(=) p.(=) Unknown - VUS g.42132791C>T g.41840593C>T JMJD7-PLA2G4B(NM_001198588.1):c.845C>T (p.(Thr282Met)) - JMJD7-PLA2G4B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8033G>A r.(=) p.(=) Unknown - VUS g.42132781C>T g.41840583C>T JMJD7-PLA2G4B(NM_001198588.1):c.835C>T (p.(Gln279Ter)) - JMJD7-PLA2G4B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8089G>A r.(=) p.(=) Unknown - likely benign g.42132725C>T g.41840527C>T PLA2G4B(NM_001114633.1):c.86C>T (p.T29I) - JMJD7-PLA2G4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8373G>A r.(=) p.(=) Unknown - benign g.42132441C>T g.41840243C>T JMJD7-PLA2G4B(NM_005090.3):c.775+13C>T - JMJD7-PLA2G4B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11507A>G r.(=) p.(=) Unknown - VUS g.42129307T>C g.41837109T>C JMJD7(NM_001114632.1):c.904T>C (p.(Tyr302His)) - JMJD7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*13394C>A r.(=) p.(=) Unknown - benign g.42127420G>T g.41835222G>T JMJD7-PLA2G4B(NM_005090.3):c.471G>T (p.L157=) - JMJD7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*13708C>G r.(=) p.(=) Unknown - benign g.42127106G>C g.41834908G>C JMJD7-PLA2G4B(NM_005090.3):c.218+15G>C - JMJD7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*13858G>C r.(=) p.(=) Unknown - benign g.42126956C>G g.41834758C>G JMJD7-PLA2G4B(NM_005090.3):c.83C>G (p.A28G) - JMJD7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*13875C>A r.(=) p.(=) Unknown - benign g.42126939G>T g.41834741G>T JMJD7-PLA2G4B(NM_005090.3):c.66G>T (p.E22D) - JMJD7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23187T>C r.(=) p.(=) Unknown - likely benign g.42117627A>G - MAPKBP1(NM_001128608.2):c.4538A>G (p.K1513R) - JMJD7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24060C>T r.(=) p.(=) Unknown - VUS g.42116754G>A g.41824556G>A MAPKBP1(NM_001128608.1):c.4304G>A (p.(Arg1435Gln)) - MAPKBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24077G>A r.(=) p.(=) Unknown - likely benign g.42116737C>T - MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=) - JMJD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24077G>A r.(=) p.(=) Unknown - likely benign g.42116737C>T - MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=) - JMJD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*24143C>T r.(=) p.(=) Unknown - benign g.42116671G>A - MAPKBP1(NM_001128608.2):c.4232-11G>A - JMJD7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24738C>A r.(=) p.(=) Unknown - likely benign g.42116076G>T - MAPKBP1(NM_001128608.2):c.4048G>T (p.G1350C) - JMJD7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*25119G>A r.(=) p.(=) Unknown - VUS g.42115695C>T g.41823497C>T MAPKBP1(NM_001128608.1):c.3667C>T (p.(Arg1223Trp)) - MAPKBP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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