Full data view for gene SQSTM1

Information The variants shown are described using the NM_003900.4 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
-?/. - c.87C>G r.(?) p.(Pro29=) Unknown - likely benign g.179248023C>G - SQSTM1(NM_003900.5):c.87C>G (p.P29=) - C5orf45_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.98C>T r.(?) p.(Ala33Val) Unknown - likely benign g.179248034C>T g.179821034C>T SQSTM1(NM_003900.5):c.98C>T (p.A33V) - C5orf45_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Leu47Val) Unknown - VUS g.179248075C>G g.179821075C>G SQSTM1(NM_003900.5):c.139C>G (p.L47V) - C5orf45_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Leu47Val) Unknown - VUS g.179248075C>G g.179821075C>G SQSTM1(NM_003900.5):c.139C>G (p.L47V) - C5orf45_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - likely benign g.179248090G>T g.179821090G>T SQSTM1(NM_003900.5):c.154G>T (p.A52S) - C5orf45_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - VUS g.179248090G>T g.179821090G>T SQSTM1(NM_003900.5):c.154G>T (p.A52S) - C5orf45_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>T r.(?) p.(Gly61=) Unknown - likely benign g.179248119C>T g.179821119C>T SQSTM1(NM_003900.5):c.183C>T (p.G61=) - SQSTM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>T r.(?) p.(Gly61=) Unknown - likely benign g.179248119C>T - SQSTM1(NM_003900.5):c.183C>T (p.G61=) - SQSTM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185G>T r.(?) p.(Gly62Val) Unknown - VUS g.179248121G>T g.179821121G>T SQSTM1(NM_003900.5):c.185G>T (p.G62V) - C5orf45_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.241G>A r.(?) p.(Glu81Lys) Unknown - likely pathogenic g.179249993G>A g.179822993G>A NM_003900.4:c.241G>A (E81K) - SQSTM1_000003 not in 768 control chromosomes PubMed: Yang 2015 - rs368853286 Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat1 PubMed: Yang 2015 - F - China - - - - - 1 Johan den Dunnen
?/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - VUS g.179250884C>T g.179823884C>T SQSTM1(NM_001142298.1):c.76C>T (p.R26C) - SQSTM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Ala117Val) Unknown - likely benign g.179250906C>T g.179823906C>T SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V) - SQSTM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Ala117Val) Unknown - likely benign g.179250906C>T g.179823906C>T SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V) - SQSTM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Ala117Val) Unknown - likely benign g.179250906C>T - SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V) - SQSTM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365T>G r.(?) p.(Val122Gly) Unknown - VUS g.179250921T>G g.179823921T>G SQSTM1(NM_003900.5):c.365T>G (p.V122G) - SQSTM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - VUS g.179250930A>G g.179823930A>G SQSTM1(NM_003900.5):c.374A>G (p.N125S) - SQSTM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415C>T r.(?) p.(Arg139Cys) Unknown - VUS g.179250971C>T - SQSTM1(NM_003900.5):c.415C>T (p.(Arg139Cys)) - C5orf45_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431T>A r.(?) p.(Val144Asp) Unknown - VUS g.179250987T>A - SQSTM1(NM_003900.5):c.431T>A (p.(Val144Asp)) - C5orf45_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457G>A r.(?) p.(Val153Ile) Unknown - VUS g.179251013G>A g.179824013G>A SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I) - C5orf45_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457G>A r.(?) p.(Val153Ile) Unknown - likely benign g.179251013G>A g.179824013G>A SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I) - C5orf45_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457G>A r.(?) p.(Val153Ile) Unknown - likely benign g.179251013G>A - SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I) - C5orf45_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.530A>C r.(?) p.(Glu177Ala) Unknown - likely benign g.179251086A>C g.179824086A>C SQSTM1(NM_001142298.1):c.278A>C (p.E93A), SQSTM1(NM_003900.5):c.530A>C (p.(Glu177Ala), p.E177A) - SQSTM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>C r.(?) p.(Glu177Ala) Unknown - VUS g.179251086A>C g.179824086A>C SQSTM1(NM_001142298.1):c.278A>C (p.E93A), SQSTM1(NM_003900.5):c.530A>C (p.(Glu177Ala), p.E177A) - SQSTM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>C r.(?) p.(Glu177Ala) Unknown - VUS g.179251086A>C - SQSTM1(NM_001142298.1):c.278A>C (p.E93A), SQSTM1(NM_003900.5):c.530A>C (p.(Glu177Ala), p.E177A) - SQSTM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Arg183Cys) Unknown - VUS g.179251197C>T g.179824197C>T SQSTM1(NM_001142298.1):c.295C>T (p.R99C) - C5orf45_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Arg183Cys) Unknown - VUS g.179251197C>T g.179824197C>T SQSTM1(NM_001142298.1):c.295C>T (p.R99C) - C5orf45_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>G r.(?) p.(Leu185=) Unknown - likely benign g.179251205C>G g.179824205C>G SQSTM1(NM_003900.5):c.555C>G (p.L185=) - C5orf45_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663G>A r.(?) p.(Thr221=) Unknown - likely benign g.179251313G>A g.179824313G>A SQSTM1(NM_003900.5):c.663G>A (p.T221=) - SQSTM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.673+1G>T r.spl? p.? Unknown - pathogenic g.179251324G>T - - - C5orf45_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674-7dup r.(=) p.(=) Unknown - likely benign g.179252139dup g.179825139dup SQSTM1(NM_003900.5):c.674-7dupA - C5orf45_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712A>G r.(?) p.(Lys238Glu) Unknown - likely benign g.179252184A>G g.179825184A>G SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E) - SQSTM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712A>G r.(?) p.(Lys238Glu) Unknown - likely benign g.179252184A>G g.179825184A>G SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E) - SQSTM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.712A>G r.(?) p.(Lys238Glu) Unknown - benign g.179252184A>G g.179825184A>G SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E) - SQSTM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.712A>G r.(?) p.(Lys238Glu) Parent #1 - benign g.179252184A>G g.179825184A>G - - SQSTM1_000017 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11548633 Germline - 20/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
+?/. 5 c.712_713insTCCTCCGAGTGTGAATTTCCTGA r.(?) p.(Lys238IlefsTer5) Both (homozygous) - likely pathogenic g.179252184_179252185insTCCTCCGAGTGTGAATTTCCTGA g.179825184_179825185insTCCTCCGAGTGTGAATTTCCTGA - - SQSTM1_000033 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4130 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.717C>A r.(?) p.(Asn239Lys) Unknown - likely pathogenic g.179252189C>A g.179825189C>A NM_003900.4:c.717C>A (N239K) - SQSTM1_000004 not in 768 control chromosomes PubMed: Yang 2015 - - Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat2 PubMed: Yang 2015 - F - China - - - - - 1 Johan den Dunnen
?/. - c.719T>C r.(?) p.(Val240Ala) Unknown - VUS g.179252191T>C g.179825191T>C SQSTM1(NM_003900.5):c.719T>C (p.V240A) - SQSTM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755-23G>A r.(=) p.(=) Unknown - benign g.179260009G>A g.179833009G>A - - C5orf45_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811G>A r.(?) p.(Val271Ile) Unknown - likely benign g.179260088G>A g.179833088G>A SQSTM1(NM_001142298.1):c.559G>A (p.V187I) - C5orf45_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.822G>C r.(?) p.(Glu274Asp) Unknown - benign g.179260099G>C g.179833099G>C SQSTM1(NM_003900.5):c.822G>C (p.E274D) - SQSTM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.822G>C r.(?) p.(Glu274Asp) Unknown - benign g.179260099G>C g.179833099G>C SQSTM1(NM_003900.5):c.822G>C (p.E274D) - SQSTM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.822G>Y r.(?) p.(Glu274Asp) Unknown - pathogenic g.179260099G>Y g.179833099G>Y E274D - SQSTM1_000035 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA SEQ - - ALS TRPM7/SQSTM1#1 PubMed: Jiang 2022 - M - China - - - - - 2 Johan den Dunnen
+/. 6 c.823_824del r.(?) p.(Ser275PhefsTer17) Both (homozygous) - pathogenic g.179260100_179260101del g.179833100_179833101del c.823_824delAG - SQSTM1_000034 - PubMed: Ganapathy 2019 ClinVar-RCV000519042.1 - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2368 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.823_824del r.(?) p.(Ser275Phefs*17) Unknown - pathogenic g.179260100_179260101del - SQSTM1(NM_003900.5):c.823_824del (p.(Ser275Phefs*17)) - SQSTM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876C>T r.(?) p.(Asp292=) Unknown - benign g.179260153C>T g.179833153C>T SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=) - SQSTM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876C>T r.(?) p.(Asp292=) Unknown - benign g.179260153C>T g.179833153C>T SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=) - SQSTM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876C>T r.(?) p.(Asp292=) Unknown - benign g.179260153C>T g.179833153C>T SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=) - SQSTM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876C>T r.(?) p.(Asp292=) Unknown - benign g.179260153C>T g.179833153C>T SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=) - SQSTM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876C>T r.(?) p.(Asp292=) Unknown - benign g.179260153C>T g.179833153C>T SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=) - SQSTM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.889G>A r.(?) p.(Gly297Ser) Unknown - likely pathogenic g.179260166G>A g.179833166G>A NM_003900.4:c.889G>A (G297S) - SQSTM1_000005 not in 768 control chromosomes PubMed: Yang 2015 - - Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat3 PubMed: Yang 2015 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.906C>T r.(?) p.(Gly302=) Unknown - likely benign g.179260183C>T g.179833183C>T SQSTM1(NM_003900.5):c.906C>T (p.G302=) - SQSTM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>A r.(?) p.(Ala308=) Unknown - likely benign g.179260201G>A g.179833201G>A SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=)) - SQSTM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>A r.(?) p.(Ala308=) Unknown - likely benign g.179260201G>A g.179833201G>A SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=)) - SQSTM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>A r.(?) p.(Ala308=) Unknown - likely benign g.179260201G>A g.179833201G>A SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=)) - SQSTM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>A r.(?) p.(Ala308=) Unknown - likely benign g.179260201G>A - SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=)) - SQSTM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936G>A r.(?) p.(Arg312=) Unknown - benign g.179260213G>A g.179833213G>A SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=) - SQSTM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936G>A r.(?) p.(Arg312=) Unknown - benign g.179260213G>A g.179833213G>A SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=) - SQSTM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936G>A r.(?) p.(Arg312=) Unknown - benign g.179260213G>A g.179833213G>A SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=) - SQSTM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936G>A r.(?) p.(Arg312=) Unknown - benign g.179260213G>A g.179833213G>A SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=) - SQSTM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936G>A r.(?) p.(Arg312=) Unknown - benign g.179260213G>A g.179833213G>A SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=) - SQSTM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.954C>T r.(?) p.(Ser318=) Unknown - benign g.179260231C>T g.179833231C>T SQSTM1(NM_003900.5):c.954C>T (p.S318=) - SQSTM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.954C>T r.(?) p.(Ser318=) Unknown - benign g.179260231C>T g.179833231C>T SQSTM1(NM_003900.5):c.954C>T (p.S318=) - SQSTM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.955G>A r.(?) p.(Glu319Lys) Unknown - likely benign g.179260232G>A g.179833232G>A SQSTM1(NM_003900.5):c.955G>A (p.E319K) - C5orf45_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.961C>T r.(?) p.(Arg321Cys) Unknown - likely benign g.179260238C>T g.179833238C>T SQSTM1(NM_003900.5):c.961C>T (p.R321C) - C5orf45_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962G>A r.(?) p.(Arg321His) Unknown - VUS g.179260239G>A - SQSTM1(NM_003900.5):c.962G>A (p.(Arg321His)) - C5orf45_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970-8T>C r.(=) p.(=) Unknown - likely benign g.179260579T>C g.179833579T>C SQSTM1(NM_003900.5):c.970-8T>C - SQSTM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.984G>A r.(?) p.(Ser328=) Unknown - benign g.179260601G>A g.179833601G>A SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=) - SQSTM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984G>A r.(?) p.(Ser328=) Unknown - likely benign g.179260601G>A g.179833601G>A SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=) - SQSTM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984G>A r.(?) p.(Ser328=) Unknown - likely benign g.179260601G>A - SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=) - SQSTM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996A>G r.(?) p.(Ser332=) Unknown - likely benign g.179260613A>G g.179833613A>G SQSTM1(NM_003900.5):c.996A>G (p.S332=) - SQSTM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996A>G r.(?) p.(Ser332=) Unknown - likely benign g.179260613A>G g.179833613A>G SQSTM1(NM_003900.5):c.996A>G (p.S332=) - SQSTM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032A>G r.(?) p.(Lys344=) Unknown - likely benign g.179260649A>G g.179833649A>G SQSTM1(NM_001142298.1):c.780A>G (p.K260=) - C5orf45_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>A r.(?) p.(Val346=) Unknown - likely benign g.179260655G>A g.179833655G>A SQSTM1(NM_003900.5):c.1038G>A (p.V346=) - C5orf45_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044G>A r.(?) p.(Pro348=) Unknown - likely benign g.179260661G>A g.179833661G>A SQSTM1(NM_001142298.2):c.792G>A (p.P264=), SQSTM1(NM_003900.5):c.1044G>A (p.P348=) - SQSTM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108T>C r.(?) p.(Ser370Pro) Unknown - likely benign g.179260725T>C g.179833725T>C SQSTM1(NM_003900.5):c.1108T>C (p.S370P) - SQSTM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108T>C r.(?) p.(Ser370Pro) Unknown - likely benign g.179260725T>C g.179833725T>C SQSTM1(NM_003900.5):c.1108T>C (p.S370P) - SQSTM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1116G>C r.(?) p.(Glu372Asp) Unknown - likely pathogenic g.179260733G>C g.179833733G>C NM_003900.4:c.1116G>C (E372D) - SQSTM1_000006 not in 768 control chromosomes PubMed: Yang 2015 - - Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat4 PubMed: Yang 2015 - F - China - - - - - 1 Johan den Dunnen
-?/. - c.1141G>A r.(?) p.(Ala381Thr) Unknown - likely benign g.179260758G>A g.179833758G>A SQSTM1(NM_003900.5):c.1141G>A (p.A381T) - C5orf45_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1149C>A r.(?) p.(Tyr383*) Unknown - likely pathogenic g.179260766C>A - SQSTM1(NM_003900.5):c.1149C>A (p.(Tyr383*)) - C5orf45_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156C>G r.(?) p.(Leu386Val) Unknown ACMG VUS g.179260773C>G - - - SQSTM1_000036 ACMG: PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - DMRV 251394 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.1162C>T r.(?) p.(Pro388Ser) Unknown - likely pathogenic g.179260779C>T g.179833779C>T NM_003900.4:c.1162C>T (P388S) - SQSTM1_000007 not in 768 control chromosomes PubMed: Yang 2015 - - Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat5 PubMed: Yang 2015 - M - China - - - - - 1 Johan den Dunnen
+?/. 7i c.1165+1G>A r.spl p.? Parent #1 - likely pathogenic (!) g.179260783G>A g.179833783G>A - - SQSTM1_000032 variant did not show full dominant penetrance PubMed: Evilä 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P12 PubMed: Evilä 2016 - - - Australia - - - - - 1 Johan den Dunnen
-?/. - c.1165+9A>G r.(=) p.(=) Unknown - likely benign g.179260791A>G g.179833791A>G SQSTM1(NM_003900.5):c.1165+9A>G - SQSTM1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1175C>T r.(?) p.(Pro392Leu) Unknown - likely pathogenic g.179263445C>T g.179836445C>T NM_003900.4:c.1175C>T (P392L) - SQSTM1_000008 not in 768 control chromosomes PubMed: Yang 2015 - rs104893941 Germline - 1/436 cases sALS - - - DNA SEQ - - ALS 25708934-Pat6 PubMed: Yang 2015 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.1175C>T r.(?) p.(Pro392Leu) Unknown - likely benign g.179263445C>T g.179836445C>T SQSTM1(NM_001142298.1):c.923C>T (p.P308L), SQSTM1(NM_003900.5):c.1175C>T (p.P392L) - SQSTM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175C>T r.(?) p.(Pro392Leu) Unknown - VUS g.179263445C>T g.179836445C>T SQSTM1(NM_001142298.1):c.923C>T (p.P308L), SQSTM1(NM_003900.5):c.1175C>T (p.P392L) - SQSTM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1175C>T r.(?) p.(Pro392Leu) Parent #1 - likely pathogenic (!) g.179263445C>T g.179836445C>T - - SQSTM1_000008 variant did not show full dominant penetrance PubMed: Evilä 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P11 PubMed: Evilä 2016 - - - France - - - - - 1 Johan den Dunnen
?/. - c.1175C>T r.(?) p.(Pro392Leu) Parent #1 - VUS g.179263445C>T g.179836445C>T - - SQSTM1_000008 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893941 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.1176G>A r.(?) p.(Pro392=) Unknown - likely benign g.179263446G>A g.179836446G>A SQSTM1(NM_003900.5):c.1176G>A (p.P392=) - C5orf45_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A r.(?) p.(Arg393Gln) Unknown - VUS g.179263448G>A g.179836448G>A SQSTM1(NM_001142298.1):c.926G>A (p.R309Q) - SQSTM1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1207T>A r.(?) p.(Ser403Thr) Unknown - VUS g.179263477T>A - SQSTM1(NM_001142298.1):c.955T>A (p.S319T) - C5orf45_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245G>A r.(?) p.(Arg415=) Unknown - likely benign g.179263515G>A - SQSTM1(NM_001142298.2):c.993G>A (p.R331=) - C5orf45_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277C>T r.(?) p.(Ala426Val) Unknown - VUS g.179263547C>T g.179836547C>T SQSTM1(NM_001142298.1):c.1025C>T (p.A342V) - C5orf45_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278G>A r.(?) p.(Ala426=) Unknown - likely benign g.179263548G>A g.179836548G>A SQSTM1(NM_001142298.1):c.1026G>A (p.A342=), SQSTM1(NM_003900.5):c.1278G>A (p.A426=) - C5orf45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278G>A r.(?) p.(Ala426=) Unknown - likely benign g.179263548G>A - SQSTM1(NM_001142298.1):c.1026G>A (p.A342=), SQSTM1(NM_003900.5):c.1278G>A (p.A426=) - C5orf45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284G>T r.(?) p.(Leu428=) Unknown - likely benign g.179263554G>T g.179836554G>T SQSTM1(NM_003900.5):c.1284G>T (p.L428=) - C5orf45_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295A>G r.(?) p.(Gln432Arg) Unknown - VUS g.179263565A>G g.179836565A>G SQSTM1(NM_001142298.2):c.1043A>G (p.Q348R) - C5orf45_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1316C>T r.(?) p.(Pro439Leu) Unknown - likely benign g.179263586C>T g.179836586C>T SQSTM1(NM_001142298.1):c.1064C>T (p.P355L) - C5orf45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11462T>C r.(=) p.(=) Unknown - likely benign g.179275055T>C - MRNIP(NM_016175.4):c.138A>G (p.(Glu46=)) - C5orf45_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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