All variants in the PANK2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_153638.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.-6_(1662+1_1663-1){0} r.0 p.0 - pathogenic g.(?_3869742)_(3899444_3903890)del g.(?_3889095)_(3918797_3923243)del c.(?_-6)_(1662+1_1663-1)del - PANK2_000053 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? g.? PANK2 614_622del; 1397C>T - DNMT3B_000000 different transcript: error in annotation, impossible to indicate the actual transcript and change; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
-?/. - c.29G>T r.(?) p.(Arg10Leu) - likely benign g.3869776G>T g.3889129G>T PANK2(NM_153638.2):c.29G>T (p.R10L) - PANK2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.37T>C r.(?) p.(Trp13Arg) - VUS g.3869784T>C - PANK2(NM_153638.2):c.37T>C (p.W13R) - PANK2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.48_50del r.(?) p.(Pro17del) - VUS g.3869795_3869797del g.3889148_3889150del PANK2(NM_153638.2):c.44_46del (p.(Pro17del)) - PANK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.96C>T r.(?) p.(Thr32=) - benign g.3869843C>T g.3889196C>T PANK2(NM_153638.4):c.96C>T (p.T32=) - PANK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.137A>T r.(?) p.(Asp46Val) - likely benign g.3869884A>T g.3889237A>T PANK2(NM_153638.2):c.137A>T (p.D46V), PANK2(NM_153638.4):c.137A>T (p.D46V) - PANK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.137A>T r.(?) p.(Asp46Val) - likely benign g.3869884A>T g.3889237A>T PANK2(NM_153638.2):c.137A>T (p.D46V), PANK2(NM_153638.4):c.137A>T (p.D46V) - PANK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.137A>T r.(?) p.(Asp46Val) - likely benign g.3869884A>T g.3889237A>T PANK2(NM_153638.2):c.137A>T (p.D46V), PANK2(NM_153638.4):c.137A>T (p.D46V) - PANK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.184G>A r.(?) p.(Glu62Lys) - VUS g.3869931G>A g.3889284G>A PANK2(NM_153638.4):c.184G>A (p.E62K) - PANK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.241_253del r.(?) p.(Ala81ThrfsTer120) - pathogenic g.3869988_3870000del g.3889341_3889353del PANK2(NM_153638.2):c.241_253delGCGCGTTGGCGCA (p.A81Tfs*120) - PANK2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.273G>A r.(?) p.(Pro91=) - likely benign g.3870020G>A - PANK2(NM_153638.2):c.273G>A (p.P91=) - PANK2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.276G>A r.(?) p.(Arg92=) - benign g.3870023G>A g.3889376G>A PANK2(NM_153638.2):c.276G>A (p.R92=), PANK2(NM_153638.4):c.276G>A (p.R92=) - PANK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.276G>A r.(?) p.(Arg92=) - likely benign g.3870023G>A g.3889376G>A PANK2(NM_153638.2):c.276G>A (p.R92=), PANK2(NM_153638.4):c.276G>A (p.R92=) - PANK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.276G>A r.(?) p.(Arg92=) - likely benign g.3870023G>A g.3889376G>A PANK2(NM_153638.2):c.276G>A (p.R92=), PANK2(NM_153638.4):c.276G>A (p.R92=) - PANK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.280C>G r.(?) p.(Arg94Gly) - likely benign g.3870027C>G - PANK2(NM_153638.2):c.280C>G (p.R94G) - PANK2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.283C>A r.(?) p.(Leu95Ile) - VUS g.3870030C>A - PANK2(NM_153638.2):c.283C>A (p.L95I) - PANK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283C>T r.(?) p.(Leu95Phe) - likely benign g.3870030C>T g.3889383C>T PANK2(NM_153638.2):c.283C>T (p.L95F, p.(Leu95Phe)) - PANK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283C>T r.(?) p.(Leu95Phe) - likely benign g.3870030C>T g.3889383C>T PANK2(NM_153638.2):c.283C>T (p.L95F, p.(Leu95Phe)) - PANK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.321G>A r.(?) p.(Arg107=) - likely benign g.3870068G>A g.3889421G>A PANK2(NM_153638.4):c.321G>A (p.R107=) - PANK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.326C>T r.(?) p.(Pro109Leu) - likely benign g.3870073C>T g.3889426C>T PANK2(NM_153638.2):c.326C>T (p.P109L) - PANK2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.332T>A r.(?) p.(Leu111Gln) - benign g.3870079T>A g.3889432T>A PANK2(NM_153638.2):c.332T>A (p.L111Q), PANK2(NM_153638.4):c.332T>A (p.L111Q) - PANK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.332T>A r.(?) p.(Leu111Gln) - benign g.3870079T>A g.3889432T>A PANK2(NM_153638.2):c.332T>A (p.L111Q), PANK2(NM_153638.4):c.332T>A (p.L111Q) - PANK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.355C>T r.(?) p.(Arg119Ter) - pathogenic g.3870102C>T g.3889455C>T PANK2(NM_153638.2):c.355C>T (p.R119*), PANK2(NM_153638.4):c.355C>T (p.R119*) - PANK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.355C>T r.(?) p.(Arg119Ter) - pathogenic g.3870102C>T g.3889455C>T PANK2(NM_153638.2):c.355C>T (p.R119*), PANK2(NM_153638.4):c.355C>T (p.R119*) - PANK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.377G>C r.(?) p.(Gly126Ala) - benign g.3870124G>C g.3889477G>C PANK2(NM_153638.2):c.377G>C (p.G126A), PANK2(NM_153638.4):c.377G>C (p.G126A) - PANK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.377G>C r.(?) p.(Gly126Ala) - benign g.3870124G>C g.3889477G>C PANK2(NM_153638.2):c.377G>C (p.G126A), PANK2(NM_153638.4):c.377G>C (p.G126A) - PANK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.377G>C r.(?) p.(Gly126Ala) - benign g.3870124G>C g.3889477G>C PANK2(NM_153638.2):c.377G>C (p.G126A), PANK2(NM_153638.4):c.377G>C (p.G126A) - PANK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.377G>C r.(?) p.(Gly126Ala) - benign g.3870124G>C g.3889477G>C PANK2(NM_153638.2):c.377G>C (p.G126A), PANK2(NM_153638.4):c.377G>C (p.G126A) - PANK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.380G>T r.(?) p.(Gly127Val) - benign g.3870127G>T g.3889480G>T PANK2(NM_153638.2):c.380G>T (p.G127V, p.(Gly127Val)), PANK2(NM_153638.4):c.380G>T (p.G127V) - PANK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.380G>T r.(?) p.(Gly127Val) - VUS g.3870127G>T g.3889480G>T PANK2(NM_153638.2):c.380G>T (p.G127V, p.(Gly127Val)), PANK2(NM_153638.4):c.380G>T (p.G127V) - PANK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.380G>T r.(?) p.(Gly127Val) - likely benign g.3870127G>T g.3889480G>T PANK2(NM_153638.2):c.380G>T (p.G127V, p.(Gly127Val)), PANK2(NM_153638.4):c.380G>T (p.G127V) - PANK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 c.383G>A r.(?) p.(Arg128Gln) - VUS g.3870130G>A g.3889483G>A G383A - PANK2_000059 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
?/. - c.388G>T r.(?) p.(Gly130Cys) - VUS g.3870135G>T g.3889488G>T PANK2(NM_153638.4):c.388G>T (p.G130C) - PANK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.401A>G r.(?) p.(Glu134Gly) - likely pathogenic g.3870148A>G g.3889501A>G PANK2 71A>G; IVS4-1G>T - PANK2_000071 different transcript: NM_001386393.1:c.71A>G = NM_153638.2:c.401A>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
-?/. - c.412A>G r.(?) p.(Arg138Gly) - likely benign g.3870159A>G g.3889512A>G PANK2(NM_153638.2):c.412A>G (p.R138G) - PANK2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.506G>C r.(?) p.(Ser169Thr) - likely benign g.3870253G>C - PANK2(NM_153638.2):c.506G>C (p.S169T) - PANK2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.507C>T r.(?) p.(Ser169=) - likely benign g.3870254C>T - PANK2(NM_153638.2):c.507C>T (p.S169=) - PANK2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.519C>G r.(?) p.(Pro173=) - benign g.3870266C>G g.3889619C>G PANK2(NM_153638.2):c.519C>G (p.P173=) - PANK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.521C>T r.(?) p.(Ala174Val) - likely benign g.3870268C>T g.3889621C>T PANK2(NM_153638.2):c.521C>T (p.A174V) - PANK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.531C>A r.(?) p.(Ala177=) - likely benign g.3870278C>A - PANK2(NM_153638.2):c.531C>A (p.A177=) - PANK2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.538G>T r.(?) p.(Glu180Ter) ACMG pathogenic (recessive) g.3870285G>T g.3889638G>T - - PANK2_000064 - PubMed: Hu 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.539_561del r.(?) p.(Glu180Glyfs*42) - pathogenic g.3870286_3870308del g.3889639_3889661del 539_561delAGGGCACGAGGCGGGATCGACTG - PANK2_000001 - - - - Unknown - - - - - IMGAG
+/. - c.570_571del r.(?) p.(Tyr190*) ACMG pathogenic g.3870317_3870318del g.3889670_3889671del - - PANK2_000086 - - - - Unknown - - - - - Cordula Haas
-/. - c.585G>T r.(?) p.(Ser195=) - benign g.3870332G>T g.3889685G>T PANK2(NM_153638.4):c.585G>T (p.S195=) - PANK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.596A>G r.(?) p.(Gln199Arg) - likely benign g.3870343A>G g.3889696A>G PANK2(NM_153638.2):c.596A>G (p.Q199R) - PANK2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.615del r.(?) p.(Lys207SerfsTer46) - likely pathogenic g.3870362del g.3889715del PANK2 285delG; 370A>G - PANK2_000072 different transcript: NM_001386393.1:c.285del = NM_153638.2:c.615del; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
?/. - c.628+2dup r.spl? p.? - VUS g.3870377dup g.3889730dup PANK2(NM_153638.2):c.628+1_628+2insT (p.?), PANK2(NM_153638.4):c.628+2dupT - PANK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.628+2dup r.spl? p.? - VUS g.3870377dup g.3889730dup PANK2(NM_153638.2):c.628+1_628+2insT (p.?), PANK2(NM_153638.4):c.628+2dupT - PANK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.(628+1_629-50)_(1412+51_1413-1)del r.(?) p.(Leu210Profs*5) ACMG likely pathogenic (recessive) g.(3870376_3888523)_(3893332_3897573)del g.(3889729_3907876)_(39126853916926)del 629-50_1412+51del - PANK2_000067 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
-?/. - c.654C>T r.(?) p.(Ile218=) - likely benign g.3888598C>T g.3907951C>T PANK2(NM_153638.2):c.654C>T (p.I218=) - PANK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.666G>A r.(?) p.(Leu222=) - likely benign g.3888610G>A g.3907963G>A PANK2(NM_153638.2):c.666G>A (p.L222=) - PANK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.700A>G r.(?) p.(Thr234Ala) - likely pathogenic g.3888644A>G g.3907997A>G PANK2 370A>G; IVS4-1G>T - PANK2_000073 different transcript: NM_001386393.1:c.370A>G = NM_153638.2:c.700A>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
+?/. - c.700A>G r.(?) p.(Thr234Ala) - likely pathogenic g.3888644A>G g.3907997A>G PANK2 285delG; 370A>G - PANK2_000073 different transcript: NM_001386393.1:c.370A>G = NM_153638.2:c.700A>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
?/. - c.717G>T r.(?) p.(Glu239Asp) - VUS g.3888661G>T g.3908014G>T PANK2(NM_153638.4):c.717G>T (p.E239D) - PANK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.738_739del r.(?) p.(Ser247HisfsTer44) - pathogenic g.3888682_3888683del g.3908035_3908036del PANK2(NM_153638.2):c.738_739delAA (p.S247Hfs*44) - PANK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.787A>T r.(?) p.(Ile263Phe) - VUS g.3888731A>T g.3908084A>T PANK2(NM_153638.2):c.787A>T (p.I263F) - PANK2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.790C>T r.(?) p.(Arg264Trp) - pathogenic g.3888734C>T g.3908087C>T - - PANK2_000047 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852961 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. - c.790C>T r.(?) p.(Arg264Trp) - likely pathogenic g.3888734C>T g.3908087C>T PANK2 460C>T; 460C>T - PANK2_000047 different transcript: NM_001386393.1:c.460C>T = NM_153638.2:c.790C>T; homozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
+?/. 2 c.809T>C r.(?) p.(Leu270Pro) ACMG likely pathogenic g.3888753T>C g.3908106T>C PANK2 c.809T>C, p.Leu270Pro - PANK2_000074 homozygous PubMed: Sakpichaisakul 2019 - - Germline yes - - - - LOVD
-?/. - c.819G>A r.(?) p.(Leu273=) - likely benign g.3888763G>A g.3908116G>A PANK2(NM_153638.2):c.819G>A (p.L273=) - PANK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.828_829del r.(?) p.(Cys276TrpfsTer15) - pathogenic g.3888772_3888773del g.3908125_3908126del c.828_829delTG - PANK2_000056 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.833G>T r.(?) p.(Arg278Leu) - VUS g.3888777G>T g.3908130G>T - - PANK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.856C>T r.(?) p.(Arg286Cys) - pathogenic g.3888800C>T g.3908153C>T - - PANK2_000057 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.898A>G r.(?) p.(Arg300Gly) - likely pathogenic g.3888842A>G g.3908195A>G PANK2 1231G>A; 568A>G - PANK2_000075 different transcript: NM_001386393.1:c.568A>G = NM_153638.2:c.898A>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
+?/. - c.944_952del r.(?) p.(Gly315_Gly317del) - likely pathogenic g.3888888_3888896del g.3908241_3908249del PANK2 614_622del; 1397C>T - PANK2_000076 different transcript: NM_001386393.1:c.614_622del = NM_153638.2:c.944_952del; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
-?/. - c.954G>A r.(?) p.(Ala318=) - likely benign g.3888898G>A g.3908251G>A PANK2(NM_001324191.1):c.81G>A (p.A27=) - PANK2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2i c.982-1G>C r.spl p.? ACMG likely pathogenic g.3891223G>C g.3910576G>C PANK2 c.982-1G>C, NA - PANK2_000077 homozygous PubMed: Sakpichaisakul 2019 - - Germline yes - - - - LOVD
+?/. 2i c.982-1G>C r.spl p.? ACMG likely pathogenic g.3891223G>C g.3910576G>C PANK2 c.982-1G>C, NA - PANK2_000077 homozygous PubMed: Sakpichaisakul 2019 - - Germline yes - - - - LOVD
+?/. 2i c.982-1G>C r.spl p.? ACMG likely pathogenic g.3891223G>C g.3910576G>C PANK2 c.982-1G>C, NA - PANK2_000077 homozygous PubMed: Sakpichaisakul 2019 - - Germline yes - - - - LOVD
+?/. 2i c.982-1G>C r.spl p.? ACMG likely pathogenic g.3891223G>C g.3910576G>C PANK2 c.982-1G>C, NA - PANK2_000077 compound heterozygous PubMed: Sakpichaisakul 2019 - - Germline yes - - - - LOVD
-?/. - c.1031A>C r.(?) p.(Lys344Thr) - likely benign g.3891273A>C g.3910626A>C PANK2(NM_024960.4):c.158A>C (p.(Lys53Thr)) - PANK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1056C>T r.(?) p.(Val352=) - benign g.3891298C>T g.3910651C>T PANK2(NM_153638.4):c.1056C>T (p.V352=) - PANK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1097del r.(?) p.(Pro366LeufsTer14) - likely pathogenic g.3891339del g.3910692del PANK2 767delC; UNK - PANK2_000078 different transcript: NM_001386393.1:c.767del = NM_153638.2:c.1097del; single heterozygous variant, no second allele detected PubMed: Egan 2005 - - Unknown ? - - - - LOVD
?/. - c.1105T>C r.(?) p.(Ser369Pro) - VUS g.3891347T>C - PANK2(NM_001324191.1):c.232T>C (p.S78P) - PANK2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1133A>G r.(?) p.(Asp378Gly) - VUS g.3891375A>G g.3910728A>G PANK2(NM_024960.4):c.260A>G (p.(Asp87Gly)) - PANK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 c.1133A>G r.(?) p.(Asp378Gly) - VUS g.3891375A>G g.3910728A>G A1133G - PANK2_000019 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
?/. - c.1211A>T r.(?) p.(Asn404Ile) - VUS g.3891453A>T - PANK2(NM_001324191.1):c.338A>T (p.N113I) - PANK2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1215C>G r.(?) p.(Tyr405Ter) - likely pathogenic g.3891457C>G g.3910810C>G PANK2 885C>G; 1231G>A - PANK2_000079 different transcript: NM_001386393.1:c.885C>G = NM_153638.2:c.1215C>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
?/. - c.1217A>G r.(?) p.(Lys406Arg) - VUS g.3891459A>G g.3910812A>G PANK2(NM_001324191.1):c.344A>G (p.K115R), PANK2(NM_001324191.2):c.344A>G (p.K115R) - PANK2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1217A>G r.(?) p.(Lys406Arg) - likely benign g.3891459A>G - PANK2(NM_001324191.1):c.344A>G (p.K115R), PANK2(NM_001324191.2):c.344A>G (p.K115R) - PANK2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1283G>A r.(?) p.(Cys428Tyr) - pathogenic g.3893152G>A g.3912505G>A - - PANK2_000054 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+/. 4 c.1292T>C r.(?) p.(Phe431Ser) - pathogenic (recessive) g.3893161T>C g.3912514T>C NM_024960.4:c.419T>C - PANK2_000055 - PubMed: Beheshtian 2015 - - Germline yes - - - - LOVD
+/. - c.1317del r.(?) p.(Arg440ValfsTer10) - pathogenic g.3893186del g.3912539del PANK2(NM_001324191.2):c.444delT (p.R149Vfs*10) - PANK2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1317del r.(?) p.(Arg440Valfs*10) - pathogenic g.3893186del g.3912539del - - PANK2_000020 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+/. - c.1317del r.(?) p.(Arg440Valfs*10) - pathogenic g.3893186del g.3912539del - - PANK2_000020 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+?/. - c.1317del r.(?) p.(Arg440ValfsTer10) - likely pathogenic g.3893186del g.3912539del PANK2 987delT; 1253C>T - PANK2_000020 different transcript: NM_001386393.1:c.987del = NM_153638.2:c.1317del; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
?/. 4 c.1339G>T r.(?) p.(Asp447Tyr) - VUS g.3893208G>T g.3912561G>T - - PANK2_000058 - - - - Germline - - - - - LOVD
+?/. - c.1391C>G r.(?) p.(Pro464Arg) - likely pathogenic g.3893260C>G g.3912613C>G PANK2 1231G>A; 1061C>G - PANK2_000080 different transcript: NM_001386393.1:c.1061C>G = NM_153638.2:c.1391C>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
+?/. - c.1391C>G r.(?) p.(Pro464Arg) - likely pathogenic g.3893260C>G g.3912613C>G PANK2 1231G>A; 1061C>G - PANK2_000080 different transcript: NM_001386393.1:c.1061C>G = NM_153638.2:c.1391C>G; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
-?/. - c.1413-14_1413-13insCCCCCT r.(=) p.(=) - likely benign g.3897560_3897561insCCCCCT g.3916913_3916914insCCCCCT PANK2(NM_153638.4):c.1413-13delTinsCCCCCTT, PANK2(NM_153638.4):c.1413-14_1413-13insCCCCCT - PANK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1413-14_1413-13insCCCCCT r.(=) p.(=) - benign g.3897560_3897561insCCCCCT - PANK2(NM_153638.4):c.1413-13delTinsCCCCCTT, PANK2(NM_153638.4):c.1413-14_1413-13insCCCCCT - PANK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1413-14_1413-9dup r.(=) p.(=) - benign g.3897560_3897565dup g.3916913_3916918dup PANK2(NM_001324191.2):c.540-14_540-9dupTTCCCC, PANK2(NM_153638.4):c.1413-14_1413-9dupTTCCCC, PANK2(NM_153638.4):c.1413-8delCinsTTCCCCC - PANK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1413-14_1413-9dup r.(=) p.(=) - likely benign g.3897560_3897565dup g.3916913_3916918dup PANK2(NM_001324191.2):c.540-14_540-9dupTTCCCC, PANK2(NM_153638.4):c.1413-14_1413-9dupTTCCCC, PANK2(NM_153638.4):c.1413-8delCinsTTCCCCC - PANK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1413-13dup r.(=) p.(=) - likely benign g.3897561dup g.3916914dup PANK2(NM_153638.4):c.1413-12delCinsTC, PANK2(NM_153638.4):c.1413-13dupT - PANK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1413-13dup r.(=) p.(=) - benign g.3897561dup g.3916914dup PANK2(NM_153638.4):c.1413-12delCinsTC, PANK2(NM_153638.4):c.1413-13dupT - PANK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 4i c.1413-13_1413-12insTTCCCC r.spl? p.? - VUS g.3897561_3897562insTTCCCC g.3916914_3916915insTTCCCC PANK2 c.540-13_540-12insTTCCCC - PANK2_000081 different transcript: NM_001324191.1(PANK2):c.540-13_540-12insTTCCCC; heterozygous PubMed: Han 2016 - - Unknown ? - - - - LOVD
-?/. - c.1413-4A>C r.spl? p.? - likely benign g.3897570A>C g.3916923A>C PANK2(NM_001324191.1):c.540-4A>C - PANK2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1413-1G>T r.(?) p.? - likely pathogenic g.3897573G>T g.3916926G>T PANK2 IVS4-1G>T; 1231G>A - PANK2_000082 different transcript: NM_153638.2:c.1413-1G>T; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
+?/. - c.1413-1G>T r.(?) p.? - likely pathogenic g.3897573G>T g.3916926G>T PANK2 71A>G; IVS4-1G>T - PANK2_000082 different transcript: NM_153638.2:c.1413-1G>T; heterozygous PubMed: Egan 2005 - - Unknown ? - - - - LOVD
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