List of variants in gene combination LOC130065345, PANK2 reported as likely benign for Pigmentary pallidal degeneration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)	rs71647829	0.00808
NM_153638.4(PANK2):c.276G>A (p.Arg92=)	rs142832849	0.00544
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)	rs528149001	0.00022
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	rs199680057	0.00015
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)	rs546381069	0.00011
NM_001386393.1(PANK2):c.198G>A (p.Gly66=)	rs751025789	0.00006
NM_153638.4(PANK2):c.285C>T (p.Leu95=)	rs573252413	0.00005
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)	rs750766653	0.00004
NM_001386393.1(PANK2):c.291G>A (p.Lys97=)	rs764439399	0.00004
NM_001386393.1(PANK2):c.108G>C (p.Ser36=)	rs1037083433	0.00003
NM_001386393.1(PANK2):c.39G>A (p.Arg13=)	rs1327793374	0.00003
NM_001386393.1(PANK2):c.204G>C (p.Ser68=)	rs767219073	0.00002
NM_001386393.1(PANK2):c.294G>A (p.Arg98=)	rs1443740202	0.00002
NM_001386393.1(PANK2):c.-10G>A	rs771710781	0.00001
NM_001386393.1(PANK2):c.180G>A (p.Ala60=)	rs1167325149	0.00001
NM_001386393.1(PANK2):c.183G>T (p.Ser61=)	rs966862550	0.00001
NM_001386393.1(PANK2):c.207T>A (p.Ala69=)	rs750266345	0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=)	rs746054643	0.00001
NM_001386393.1(PANK2):c.298+10C>T	rs755815669	0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)	rs930563925	0.00001
NM_001386393.1(PANK2):c.-13A>G
NM_001386393.1(PANK2):c.-16G>A
NM_001386393.1(PANK2):c.-28C>A
NM_001386393.1(PANK2):c.-28C>G
NM_001386393.1(PANK2):c.-28C>T	rs544239478
NM_001386393.1(PANK2):c.-31T>G
NM_001386393.1(PANK2):c.-37C>G
NM_001386393.1(PANK2):c.-40T>C	rs555683860
NM_001386393.1(PANK2):c.-40T>G
NM_001386393.1(PANK2):c.-4G>C
NM_001386393.1(PANK2):c.-7T>C
NM_001386393.1(PANK2):c.102C>G (p.Val34=)
NM_001386393.1(PANK2):c.105G>T (p.Ser35=)
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)
NM_001386393.1(PANK2):c.126C>T (p.Ala42=)
NM_001386393.1(PANK2):c.129G>C (p.Gly43=)
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)
NM_001386393.1(PANK2):c.145C>A (p.Arg49=)
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)
NM_001386393.1(PANK2):c.15C>T (p.Leu5=)
NM_001386393.1(PANK2):c.165C>T (p.Arg55=)
NM_001386393.1(PANK2):c.171G>C (p.Ala57=)
NM_001386393.1(PANK2):c.183G>A (p.Ser61=)
NM_001386393.1(PANK2):c.186G>A (p.Val62=)
NM_001386393.1(PANK2):c.186G>T (p.Val62=)
NM_001386393.1(PANK2):c.189C>T (p.Pro63=)	rs71647829
NM_001386393.1(PANK2):c.192G>A (p.Ala64=)
NM_001386393.1(PANK2):c.192G>C (p.Ala64=)
NM_001386393.1(PANK2):c.192G>T (p.Ala64=)
NM_001386393.1(PANK2):c.195C>G (p.Val65=)
NM_001386393.1(PANK2):c.198G>T (p.Gly66=)
NM_001386393.1(PANK2):c.201C>A (p.Ala67=)	rs756936934
NM_001386393.1(PANK2):c.201C>T (p.Ala67=)	rs756936934
NM_001386393.1(PANK2):c.204G>T (p.Ser68=)
NM_001386393.1(PANK2):c.216G>A (p.Thr72=)
NM_001386393.1(PANK2):c.234C>G (p.Gly78=)
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)
NM_001386393.1(PANK2):c.243C>T (p.Ser81=)
NM_001386393.1(PANK2):c.246C>T (p.Gly82=)
NM_001386393.1(PANK2):c.252C>A (p.Thr84=)
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)	rs375741383
NM_001386393.1(PANK2):c.261C>T (p.Ser87=)
NM_001386393.1(PANK2):c.270C>T (p.Arg90=)
NM_001386393.1(PANK2):c.273C>G (p.Val91=)
NM_001386393.1(PANK2):c.273C>T (p.Val91=)
NM_001386393.1(PANK2):c.279C>T (p.Ser93=)
NM_001386393.1(PANK2):c.27A>G (p.Arg9=)
NM_001386393.1(PANK2):c.27A>T (p.Arg9=)
NM_001386393.1(PANK2):c.280C>T (p.Leu94=)
NM_001386393.1(PANK2):c.298+11C>T
NM_001386393.1(PANK2):c.298+11del
NM_001386393.1(PANK2):c.298+12G>C
NM_001386393.1(PANK2):c.298+12G>T
NM_001386393.1(PANK2):c.298+13T>A
NM_001386393.1(PANK2):c.298+18C>T
NM_001386393.1(PANK2):c.298+20C>T
NM_001386393.1(PANK2):c.298+9T>C
NM_001386393.1(PANK2):c.30G>A (p.Leu10=)
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)
NM_001386393.1(PANK2):c.34C>T (p.Leu12=)
NM_001386393.1(PANK2):c.39G>T (p.Arg13=)
NM_001386393.1(PANK2):c.45A>C (p.Gly15=)
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)	rs772205776
NM_001386393.1(PANK2):c.57C>T (p.Leu19=)
NM_001386393.1(PANK2):c.60C>T (p.Gly20=)
NM_001386393.1(PANK2):c.63G>A (p.Ala21=)
NM_001386393.1(PANK2):c.63G>C (p.Ala21=)
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)
NM_001386393.1(PANK2):c.6G>C (p.Gly2=)
NM_001386393.1(PANK2):c.81C>T (p.Gly27=)
NM_001386393.1(PANK2):c.87T>G (p.Ala29=)
NM_001386393.1(PANK2):c.90C>A (p.Ser30=)
NM_001386393.1(PANK2):c.93C>T (p.Ala31=)
NM_001386393.1(PANK2):c.96C>T (p.Thr32=)
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)
NM_001386393.1(PANK2):c.9C>T (p.Gly3=)
NM_153638.4(PANK2):c.189G>A (p.Pro63=)
NM_153638.4(PANK2):c.213G>C (p.Pro71=)
NM_153638.4(PANK2):c.219A>G (p.Pro73=)
NM_153638.4(PANK2):c.222C>G (p.Ala74=)
NM_153638.4(PANK2):c.243G>T (p.Ala81=)
NM_153638.4(PANK2):c.252C>T (p.Arg84=)
NM_153638.4(PANK2):c.258A>C (p.Gly86=)
NM_153638.4(PANK2):c.264C>T (p.Gly88=)
NM_153638.4(PANK2):c.273G>A (p.Pro91=)
NM_153638.4(PANK2):c.273G>C (p.Pro91=)

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