Full data view for gene PNKP

Information The variants shown are described using the NM_007254.3 transcript reference sequence.

160 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.-13-20C>T r.(=) p.(=) Unknown - likely benign g.50370494G>A - PNKP(NM_007254.4):c.-13-20C>T - PNKP_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13-8C>T r.(=) p.(=) Unknown - likely benign g.50370482G>A g.49867225G>A PNKP(NM_007254.3):c.-13-8C>T (p.(=)) - PNKP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13-8C>T r.(=) p.(=) Unknown - likely benign g.50370482G>A g.49867225G>A PNKP(NM_007254.3):c.-13-8C>T (p.(=)) - PNKP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.35T>C r.(?) p.(Leu12Pro) Parent #1 - VUS g.50370427A>G g.49867170A>G - - PNKP_000090 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2562 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.58C>T r.(?) p.(Pro20Ser) Unknown - benign g.50370404G>A g.49867147G>A PNKP(NM_007254.3):c.58C>T (p.P20S), PNKP(NM_007254.4):c.58C>T (p.P20S) - PNKP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58C>T r.(?) p.(Pro20Ser) Unknown - benign g.50370404G>A g.49867147G>A PNKP(NM_007254.3):c.58C>T (p.P20S), PNKP(NM_007254.4):c.58C>T (p.P20S) - PNKP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.58C>T r.(?) p.(Pro20Ser) Both (homozygous) - pathogenic (recessive) g.50370404G>A g.49867147G>A c.58G>A - PNKP_000043 - PubMed: Carvill 2013 - - Germline - - - - - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T23141 PubMed: Carvill 2013 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.58C>T r.(?) p.(Pro20Ser) Unknown - likely benign g.50370404G>A g.49867147G>A - - PNKP_000043 - PubMed: Eisenberger 2018 - rs3739168 Germline - - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
+?/. - c.63dup r.(?) p.(Ile22Hisfs*37) Both (homozygous) - likely pathogenic g.50370404dup g.49867147dup - - PNKP_000086 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.109C>G r.(?) p.(Pro37Ala) Unknown - VUS g.50370353G>C - PNKP(NM_007254.3):c.109C>G (p.P37A) - PNKP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130C>A r.(?) p.(Arg44=) Unknown - likely benign g.50370332G>T g.49867075G>T PNKP(NM_007254.4):c.130C>A (p.R44=) - PNKP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.152-85A>G r.(=) p.(=) Unknown - benign g.50369787T>C g.49866530T>C PNKP(NM_007254.4):c.152-85A>G - PNKP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178C>G r.(?) p.(Arg60Gly) Unknown - VUS g.50369676G>C g.49866419G>C PNKP(NM_007254.4):c.178C>G (p.R60G) - PNKP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Ala63Val) Unknown - likely benign g.50369666G>A g.49866409G>A PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V) - PNKP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Ala63Val) Unknown - likely benign g.50369666G>A g.49866409G>A PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V) - PNKP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Ala63Val) Unknown - likely benign g.50369666G>A g.49866409G>A PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V) - PNKP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.198+2dup r.spl p.? Both (homozygous) - pathogenic (recessive) g.50369654dup g.49866397dup 198+2_+3insT - PNKP_000081 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR121Pat1 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.198+2dup r.spl p.? Both (homozygous) - pathogenic (recessive) g.50369654dup g.49866397dup 198+2_+3insT - PNKP_000081 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR121Pat2 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.198+2dup r.spl p.? Both (homozygous) - pathogenic (recessive) g.50369654dup g.49866397dup 198+2_+3insT - PNKP_000081 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR121Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.366C>T r.(?) p.(Thr122=) Unknown - likely benign g.50368516G>A g.49865259G>A PNKP(NM_007254.3):c.366C>T (p.T122=) - PNKP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.50368466C>T g.49865209C>T PNKP(NM_007254.3):c.416G>A (p.R139H), PNKP(NM_007254.4):c.416G>A (p.R139H) - PNKP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.416G>A r.(?) p.(Arg139His) Unknown - likely benign g.50368466C>T g.49865209C>T PNKP(NM_007254.3):c.416G>A (p.R139H), PNKP(NM_007254.4):c.416G>A (p.R139H) - PNKP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430A>G r.(?) p.(Asn144Asp) Unknown - likely benign g.50368452T>C - PNKP(NM_007254.3):c.430A>G (p.N144D) - PNKP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>A r.(?) p.(Asn144Lys) Unknown - likely benign g.50368450G>T - PNKP(NM_007254.3):c.432C>A (p.N144K) - AKT1S1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450G>A r.(?) p.(Leu150=) Unknown - likely benign g.50368432C>T g.49865175C>T PNKP(NM_007254.3):c.450G>A (p.L150=) - PNKP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+23A>T r.(=) p.(=) Unknown - benign g.50368361T>A g.49865104T>A PNKP(NM_007254.3):c.498+23A>T - PNKP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.499-27C>T r.(=) p.(=) Unknown - benign g.50367687G>A g.49864430G>A PNKP(NM_007254.4):c.499-27C>T - PNKP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501G>A r.(?) p.(Val167=) Unknown - likely benign g.50367658C>T g.49864401C>T PNKP(NM_007254.3):c.501G>A (p.V167=) - PNKP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.514C>G r.(?) p.(Leu172Val) Maternal (confirmed) - likely pathogenic (recessive) g.50367645G>C g.49864388G>C - - PNKP_000074 - PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EE - PubMed: Minardi 2020 - F - Italy - - - - - 1 Francesca Bisulli
-?/. - c.522G>A r.(?) p.(Gly174=) Unknown - likely benign g.50367637C>T g.49864380C>T PNKP(NM_007254.3):c.522G>A (p.G174=) - PNKP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>T r.(?) p.(Leu176Phe) Parent #2 - pathogenic (recessive) g.50367633G>A g.49864376G>A - - PNKP_000048 - PubMed: Shen 2010, OMIM:var0003 - - Germline - - - - - DNA SEQ, SEQ-NG - - MCSZ;EIEE10 20118933_Fam6 PubMed: Shen 2010 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Germany;Ireland - - - - - 2 Johan den Dunnen
-?/. - c.538C>A r.(?) p.(Arg180Ser) Unknown - likely benign g.50367621G>T g.49864364G>T PNKP(NM_007254.3):c.538C>A (p.R180S), PNKP(NM_007254.4):c.538C>A (p.R180S) - PNKP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.538C>A r.(?) p.(Arg180Ser) Unknown - benign g.50367621G>T g.49864364G>T PNKP(NM_007254.3):c.538C>A (p.R180S), PNKP(NM_007254.4):c.538C>A (p.R180S) - PNKP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564C>T r.(?) p.(Gly188=) Unknown - likely benign g.50367595G>A g.49864338G>A PNKP(NM_007254.4):c.564C>T (p.G188=) - PNKP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566C>G r.(?) p.(Pro189Arg) Unknown - VUS g.50367593G>C - PNKP(NM_007254.3):c.566C>G (p.P189R) - PNKP_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.579-18G>A r.(=) p.(=) Unknown - VUS g.50367511C>T g.49864254C>T PNKP(NM_007254.4):c.579-18G>A - PNKP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(Arg193=) Unknown - likely benign g.50367493C>T g.49864236C>T PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=) - PNKP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A r.(?) p.(Arg193=) Unknown - benign g.50367493C>T g.49864236C>T PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=) - PNKP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(Arg193=) Unknown - likely benign g.50367493C>T g.49864236C>T PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=) - PNKP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.586T>A r.(?) p.(Tyr196Asn) Unknown - benign g.50367486A>T g.49864229A>T PNKP(NM_007254.4):c.586T>A (p.Y196N) - PNKP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Ala208=) Unknown - likely benign g.50367448G>A g.49864191G>A PNKP(NM_007254.4):c.624C>T (p.A208=) - PNKP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636+7G>A r.(=) p.(=) Unknown - likely benign g.50367429C>T g.49864172C>T PNKP(NM_007254.4):c.636+7G>A - PNKP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672C>T r.(?) p.(Arg224=) Unknown - likely benign g.50367293G>A g.49864036G>A PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=) - PNKP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672C>T r.(?) p.(Arg224=) Unknown - likely benign g.50367293G>A g.49864036G>A PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=) - PNKP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672C>T r.(?) p.(Arg224=) Unknown - likely benign g.50367293G>A g.49864036G>A PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=) - PNKP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678G>A r.(?) p.(Lys226=) Unknown - likely benign g.50367287C>T g.49864030C>T PNKP(NM_007254.3):c.678G>A (p.K226=) - PNKP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745-9del r.(=) p.(=) Unknown - likely benign g.50367028del g.49863771del PNKP(NM_007254.3):c.745-9delC - PNKP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745-6C>T r.(=) p.(=) Unknown - likely benign g.50367023G>A - PNKP(NM_007254.4):c.745-6C>T - PNKP_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783G>A r.(?) p.(Pro261=) Unknown - likely benign g.50366979C>T g.49863722C>T PNKP(NM_007254.3):c.783G>A (p.P261=), PNKP(NM_007254.4):c.783G>A (p.P261=) - PNKP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783G>A r.(?) p.(Pro261=) Unknown - likely benign g.50366979C>T g.49863722C>T PNKP(NM_007254.3):c.783G>A (p.P261=), PNKP(NM_007254.4):c.783G>A (p.P261=) - PNKP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793A>G r.(?) p.(Met265Val) Unknown - VUS g.50366969T>C g.49863712T>C PNKP(NM_007254.3):c.793A>G (p.M265V) - PNKP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.817-12C>T r.(=) p.(=) Unknown - benign g.50366007G>A g.49862750G>A PNKP(NM_007254.3):c.817-12C>T, PNKP(NM_007254.4):c.817-12C>T - PNKP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.817-12C>T r.(=) p.(=) Unknown - likely benign g.50366007G>A - PNKP(NM_007254.3):c.817-12C>T, PNKP(NM_007254.4):c.817-12C>T - PNKP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831G>A r.(?) p.(Thr277=) Unknown - likely benign g.50365981C>T g.49862724C>T PNKP(NM_007254.3):c.831G>A (p.T277=), PNKP(NM_007254.4):c.831G>A (p.T277=) - PNKP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831G>A r.(?) p.(Thr277=) Unknown - likely benign g.50365981C>T - PNKP(NM_007254.3):c.831G>A (p.T277=), PNKP(NM_007254.4):c.831G>A (p.T277=) - PNKP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841A>G r.(?) p.(Ile281Val) Unknown - likely benign g.50365971T>C - PNKP(NM_007254.3):c.841A>G (p.I281V) - PNKP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865+8C>T r.(=) p.(=) Unknown - likely benign g.50365939G>A g.49862682G>A PNKP(NM_007254.3):c.865+8C>T - PNKP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865+16C>T r.(=) p.(=) Unknown - likely benign g.50365931G>A g.49862674G>A PNKP(NM_007254.4):c.865+16C>T - PNKP_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881C>T r.(?) p.(Pro294Leu) Unknown - likely benign g.50365850G>A g.49862593G>A PNKP(NM_007254.3):c.881C>T (p.(Pro294Leu)) - PNKP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883G>A r.(?) p.(Ala295Thr) Unknown - VUS g.50365848C>T g.49862591C>T PNKP(NM_007254.3):c.883G>A (p.A295T) - PNKP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901C>T r.(?) p.(Arg301Trp) Unknown - likely benign g.50365830G>A g.49862573G>A PNKP(NM_007254.4):c.901C>T (p.R301W) - PNKP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901C>T r.(?) p.(Arg301Trp) Unknown - VUS g.50365830G>A g.49862573G>A PNKP(NM_007254.4):c.901C>T (p.R301W) - PNKP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.920_922del r.(?) p.(Ser307del) Unknown - likely pathogenic g.50365811_50365813del g.49862554_49862556del - - PNKP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10i c.936+1G>T r.spl p.? Parent #2 - likely pathogenic g.50365794C>A g.49862537C>A - - PNKP_000089 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2562 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.936+17dup r.(=) p.(=) Unknown - likely benign g.50365782dup g.49862525dup PNKP(NM_007254.3):c.936+17dupC, PNKP(NM_007254.4):c.936+12delGinsGC, PNKP(NM_007254.4):c.936+17dupC - PNKP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936+17dup r.(=) p.(=) Unknown - benign g.50365782dup g.49862525dup PNKP(NM_007254.3):c.936+17dupC, PNKP(NM_007254.4):c.936+12delGinsGC, PNKP(NM_007254.4):c.936+17dupC - PNKP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939T>C r.(?) p.(Phe313=) Unknown - likely benign g.50365718A>G g.49862461A>G PNKP(NM_007254.3):c.939T>C (p.F313=), PNKP(NM_007254.4):c.939T>C (p.F313=) - PNKP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939T>C r.(?) p.(Phe313=) Unknown - likely benign g.50365718A>G g.49862461A>G PNKP(NM_007254.3):c.939T>C (p.F313=), PNKP(NM_007254.4):c.939T>C (p.F313=) - PNKP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.968C>T r.(?) p.(Thr323Met) Unknown - pathogenic g.50365689G>A g.49862432G>A PNKP(NM_007254.4):c.968C>T (p.T323M) - PNKP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.976G>A r.(?) p.(Glu326Lys) Both (homozygous) - pathogenic (recessive) g.50365681C>T g.49862424C>T 975G>A - PNKP_000047 - PubMed: Shen 2010, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MCSZ;EIEE10 20118933_Fam1 PubMed: Shen 2010 5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Jordan;Palestine Palestine - - - - 1 Johan den Dunnen
+/. - c.976G>A r.(?) p.(Glu326Lys) Both (homozygous) - pathogenic (recessive) g.50365681C>T g.49862424C>T 975G>A - PNKP_000047 - PubMed: Shen 2010, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MCSZ;EIEE10 20118933_Fam2 PubMed: Shen 2010 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M - Jordan;Palestine Palestine - - - - 2 Johan den Dunnen
+/. - c.976G>A r.(?) p.(Glu326Lys) Both (homozygous) - pathogenic (recessive) g.50365681C>T g.49862424C>T - - PNKP_000047 - PubMed: Shen 2010, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MCSZ;EIEE10 20118933_Fam3 PubMed: Shen 2010 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes United States Palestine - - - - 2 Johan den Dunnen
+?/. - c.976G>A r.(?) p.(Glu326Lys) Unknown - likely pathogenic g.50365681C>T g.49862424C>T - - PNKP_000047 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.976G>A r.(?) p.(Glu326Lys) Parent #1 - pathogenic (recessive) g.50365681C>T g.49862424C>T - - PNKP_000047 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF015 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
-?/. - c.994C>T r.(?) p.(Pro332Ser) Unknown - likely benign g.50365663G>A g.49862406G>A PNKP(NM_007254.3):c.994C>T (p.P332S) - PNKP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1029+2T>C r.spl? p.? Unknown - pathogenic g.50365626A>G g.49862369A>G PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C - PNKP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1029+2T>C r.spl? p.? Unknown - pathogenic g.50365626A>G g.49862369A>G PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C - PNKP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1029+2T>C r.spl? p.? Unknown - pathogenic g.50365626A>G g.49862369A>G PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C - PNKP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1029+2T>C r.spl? p.? Parent #1 - VUS g.50365626A>G g.49862369A>G - - PNKP_000016 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199919568 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.1029+2T>C r.spl? p.? Unknown - likely pathogenic g.50365626A>G - PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C - PNKP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1029+2T>C r.spl? p.? Unknown - likely pathogenic g.50365626A>G - PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C - PNKP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032G>A r.(?) p.(Arg344=) Unknown - likely benign g.50365536C>T g.49862279C>T PNKP(NM_007254.4):c.1032G>A (p.R344=) - PNKP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065C>G r.(?) p.(Pro355=) Unknown - likely benign g.50365503G>C g.49862246G>C PNKP(NM_007254.3):c.1065C>G (p.P355=) - PNKP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1094C>T r.(?) p.(Pro365Leu) Unknown - VUS g.50365474G>A g.49862217G>A PNKP(NM_007254.4):c.1094C>T (p.P365L) - PNKP_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1123G>T r.(?) p.(Gly375Trp) Paternal (confirmed) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam1Pat1 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Portugal - - - - - 2 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Paternal (confirmed) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam1Pat2 PubMed: Bras 2015 sister F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline - - - - - DNA SEQ-NG - WES AOA 25728773-Fam2Pat3 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - 1 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline - - - - - DNA SEQ-NG - WES AOA 25728773-Fam5Pat6 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - 1 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Parent #1 - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline - - - - - DNA SEQ-NG - WES AOA 25728773-Fam6Pat7 PubMed: Bras 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - 1 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam7Pat8 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F yes Portugal - - - - - 2 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam7Pat9 PubMed: Bras 2015 brother M yes Portugal - - - - - 1 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam8Pat10 PubMed: Bras 2015 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Portugal - - - - - 2 Johan den Dunnen
+/. - c.1123G>T r.(?) p.(Gly375Trp) Both (homozygous) - pathogenic (recessive) g.50365445C>A g.49862188C>A - - PNKP_000050 - PubMed: Bras 2015 - - Germline yes - - - - DNA SEQ-NG - WES AOA 25728773-Fam8Pat11 PubMed: Bras 2015 brother M - Portugal - - - - - 1 Johan den Dunnen
?/. - c.1126+5G>C r.spl? p.? Unknown - VUS g.50365437C>G - PNKP(NM_007254.4):c.1126+5G>C - PNKP_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126+7G>A r.(=) p.(=) Unknown - likely benign g.50365435C>T g.49862178C>T PNKP(NM_007254.3):c.1126+7G>A - PNKP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126+9C>T r.(=) p.(=) Unknown - likely benign g.50365433G>A - PNKP(NM_007254.3):c.1126+9C>T - PNKP_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126+34C>T r.(=) p.(=) Unknown - likely benign g.50365408G>A - PNKP(NM_007254.4):c.1126+34C>T - PNKP_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1127-8C>T r.(=) p.(=) Unknown - likely benign g.50365370G>A g.49862113G>A PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T - PNKP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1127-8C>T r.(=) p.(=) Unknown - benign g.50365370G>A g.49862113G>A PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T - PNKP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1127-8C>T r.(=) p.(=) Unknown - benign g.50365370G>A g.49862113G>A PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T - PNKP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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