Full data view for gene HSPG2

Information The variants shown are described using the NM_005529.5 transcript reference sequence.

244 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-626700_*1609068del - r.? p.? Unknown g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.109G>A likely benign r.(?) p.(Asp37Asn) Unknown g.22222758C>T - HSPG2(NM_005529.5):c.109G>A (p.(Asp37Asn)) - HSPG2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T likely benign r.(?) p.(=) Unknown g.22222458G>A - HSPG2(NM_001291860.1):c.201C>T (p.=) - HSPG2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>A likely benign r.(?) p.(Asp68Glu) Unknown g.22222455G>T - HSPG2(NM_005529.5):c.204C>A (p.(Asp68Glu)) - HSPG2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324C>T benign r.(?) p.(=) Unknown g.22217108G>A - HSPG2(NM_005529.6):c.324C>T (p.F108=) - HSPG2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325C>G likely benign r.(?) p.(Arg109Gly) Unknown g.22217107G>C - HSPG2(NM_001291860.1):c.325C>G (p.R109G) - HSPG2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337G>A VUS r.(?) p.(Glu113Lys) Unknown g.22217095C>T - HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys)) - HSPG2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>A likely benign r.(?) p.(Glu113Lys) Unknown g.22217095C>T - HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys)) - HSPG2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.415G>T VUS r.(?) p.(Glu139*) Unknown g.22216633C>A - HSPG2(NM_001291860.1):c.415G>T (p.E139*) - HSPG2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.416A>T VUS r.(?) p.(Glu139Val) Unknown g.22216632T>A - HSPG2(NM_001291860.1):c.416A>T (p.E139V) - HSPG2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.444G>C benign r.(?) p.(=) Unknown g.22216604C>G - HSPG2(NM_005529.6):c.444G>C (p.L148=) - HSPG2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.474G>T benign r.(?) p.(=) Unknown g.22216574C>A - HSPG2(NM_005529.6):c.474G>T (p.G158=) - HSPG2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>A likely benign r.(?) p.(Met263Ile) Unknown g.22214082C>T - HSPG2(NM_005529.5):c.789G>A (p.(Met263Ile)) - HSPG2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901G>A likely benign r.(?) p.(Asp301Asn) Unknown g.22213970C>T - HSPG2(NM_005529.5):c.901G>A (p.(Asp301Asn)) - HSPG2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>A likely benign r.(?) p.(Thr361Asn) Unknown g.22211941G>T - HSPG2(NM_001291860.1):c.1082C>A (p.T361N) - HSPG2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>A likely benign r.(?) p.(Thr361Asn) Unknown g.22211941G>T - HSPG2(NM_001291860.1):c.1082C>A (p.T361N) - HSPG2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123T>C VUS r.(?) p.(Cys375Arg) Unknown g.22211900A>G - HSPG2(NM_001291860.1):c.1123T>C (p.C375R) - HSPG2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>C VUS r.(?) p.(Asp396Ala) Unknown g.22211836T>G - HSPG2(NM_001291860.1):c.1187A>C (p.D396A) - HSPG2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1238G>A likely benign r.(?) p.(Arg413Gln) Unknown g.22211623C>T - HSPG2(NM_005529.5):c.1238G>A (p.(Arg413Gln)) - HSPG2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1238G>A likely benign r.(?) p.(Arg413Gln) Unknown g.22211623C>T - HSPG2(NM_005529.5):c.1238G>A (p.(Arg413Gln)) - HSPG2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259G>A likely benign r.(?) p.(Arg420Gln) Unknown g.22211602C>T - HSPG2(NM_005529.5):c.1259G>A (p.(Arg420Gln)) - HSPG2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1267_1270del pathogenic r.(?) p.(Thr423*) Unknown g.22211594_22211597del - HSPG2(NM_001291860.1):c.1267_1270delACAG (p.T423*) - HSPG2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1424G>A VUS r.(?) p.(Gly475Asp) Unknown g.22211343C>T - HSPG2(NM_005529.5):c.1424G>A (p.(Gly475Asp)) - HSPG2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557G>A benign r.(?) p.(=) Unknown g.22211118C>T - HSPG2(NM_001291860.1):c.1560G>A (p.=) - HSPG2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 13 c.1627C>T - r.(?) p.(Arg543Cys) Paternal (confirmed) g.22211048G>A g.21884555G>A - - HSPG2_000004 variant present in affected sister PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Aruba - - 0 - - 1 Danielle Bosch
?/. - c.1628G>A VUS r.(?) p.(Arg543His) Unknown g.22211047C>T - HSPG2(NM_001291860.1):c.1631G>A (p.R544H) - HSPG2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1818+15_1818+27del benign r.(=) p.(=) Unknown g.22207811_22207823del - HSPG2(NM_005529.6):c.1818+15_1818+27delCTGCCACCCTGGG - HSPG2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1843C>T VUS r.(?) p.(Arg615Cys) Unknown g.22207304G>A - HSPG2(NM_005529.5):c.1843C>T (p.(Arg615Cys)) - HSPG2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1852G>A likely benign r.(?) p.(Val618Met) Unknown g.22207295C>T - HSPG2(NM_005529.5):c.1852G>A (p.(Val618Met)) - HSPG2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903G>A VUS r.(?) p.(Val635Met) Unknown g.22207244C>T - HSPG2(NM_005529.5):c.1903G>A (p.(Val635Met)) - HSPG2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1912A>G benign r.(?) p.(Met638Val) Unknown g.22207235T>C - HSPG2(NM_005529.6):c.1912A>G (p.M638V) - HSPG2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1939C>T pathogenic r.(?) p.(Arg647*) Unknown g.22207208G>A - HSPG2(NM_001291860.1):c.1942C>T (p.R648*) - HSPG2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1999-13C>T likely benign r.(=) p.(=) Unknown g.22207065G>A - HSPG2(NM_005529.6):c.1999-13C>T - HSPG2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2034G>T likely benign r.(?) p.(Gln678His) Unknown g.22207017C>A - HSPG2(NM_005529.5):c.2034G>T (p.(Gln678His)) - HSPG2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2049G>A likely benign r.(?) p.(=) Unknown g.22207002C>T - HSPG2(NM_001291860.1):c.2052G>A (p.L684=) - HSPG2_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 16 c.2074G>A - r.(?) p.(Val692Met) Maternal (confirmed) g.22206977C>T g.21880484C>T - - HSPG2_000003 variant present in affected sister PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Aruba - - 0 - - 1 Danielle Bosch
-?/. - c.2074G>A likely benign r.(?) p.(Val692Met) Unknown g.22206977C>T - HSPG2(NM_001291860.1):c.2077G>A (p.V693M) - HSPG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2109C>T benign r.(?) p.(=) Unknown g.22206942G>A - HSPG2(NM_005529.6):c.2109C>T (p.A703=) - HSPG2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2195+1G>T likely pathogenic r.spl? p.? Unknown g.22206855C>A - HSPG2(NM_005529.5):c.2195+1G>T (p.?) - HSPG2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2294A>G benign r.(?) p.(Asn765Ser) Unknown g.22206649T>C - HSPG2(NM_005529.6):c.2294A>G (p.N765S) - HSPG2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2357A>G - r.(?) p.(Asn786Ser) Paternal (confirmed) g.22205601T>C g.21879108T>C - - HSPG2_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.2357A>G likely benign r.(?) p.(Asn786Ser) Unknown g.22205601T>C - HSPG2(NM_005529.5):c.2357A>G (p.(Asn786Ser)) - HSPG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2467C>T VUS r.(?) p.(Arg823Cys) Unknown g.22205491G>A - HSPG2(NM_001291860.1):c.2470C>T (p.R824C) - HSPG2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2521G>T VUS r.(?) p.(Ala841Ser) Unknown g.22205107C>A - HSPG2(NM_001291860.1):c.2524G>T (p.A842S) - HSPG2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2549G>A likely benign r.(?) p.(Arg850His) Unknown g.22205079C>T - HSPG2(NM_005529.5):c.2549G>A (p.(Arg850His)) - HSPG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2596G>A likely benign r.(?) p.(Gly866Ser) Unknown g.22204947C>T - HSPG2(NM_005529.5):c.2596G>A (p.(Gly866Ser)) - HSPG2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614G>A likely benign r.(?) p.(Val872Ile) Unknown g.22204929C>T - HSPG2(NM_005529.5):c.2614G>A (p.(Val872Ile)) - HSPG2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2725G>A VUS r.(?) p.(Gly909Ser) Unknown g.22203106C>T - HSPG2(NM_005529.5):c.2725G>A (p.(Gly909Ser)) - HSPG2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2755G>A likely benign r.(?) p.(Asp919Asn) Unknown g.22203076C>T - HSPG2(NM_005529.5):c.2755G>A (p.(Asp919Asn)) - HSPG2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2819G>A VUS r.(?) p.(Arg940His) Unknown g.22203012C>T - HSPG2(NM_005529.5):c.2819G>A (p.(Arg940His)) - HSPG2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2869A>C likely benign r.(?) p.(Asn957His) Unknown g.22202856T>G - HSPG2(NM_005529.5):c.2869A>C (p.(Asn957His)) - HSPG2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2890A>T likely benign r.(?) p.(Thr964Ser) Unknown g.22202835T>A - HSPG2(NM_001291860.1):c.2893A>T (p.T965S) - HSPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2998G>A likely benign r.(?) p.(Asp1000Asn) Unknown g.22202727C>T - HSPG2(NM_005529.5):c.2998G>A (p.(Asp1000Asn)) - HSPG2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3056C>T - r.(?) p.(Pro1019Leu) Unknown g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.3056C>T - r.(?) p.(Pro1019Leu) Unknown g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-?/. - c.3056C>T likely benign r.(?) p.(Pro1019Leu) Unknown g.22202483G>A - HSPG2(NM_005529.5):c.3056C>T (p.(Pro1019Leu)) - HSPG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3269G>A likely benign r.(?) p.(Arg1090Gln) Unknown g.22202155C>T - HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q) - HSPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3269G>A likely benign r.(?) p.(Arg1090Gln) Unknown g.22202155C>T - HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q) - HSPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3302+13G>A benign r.(=) p.(=) Unknown g.22202109C>T - HSPG2(NM_005529.6):c.3302+13G>A - HSPG2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3505G>A VUS r.(?) p.(Glu1169Lys) Unknown g.22201132C>T - HSPG2(NM_001291860.1):c.3508G>A (p.E1170K) - HSPG2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3557G>A likely benign r.(?) p.(Arg1186Gln) Unknown g.22200998C>T - HSPG2(NM_005529.5):c.3557G>A (p.(Arg1186Gln)) - HSPG2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28 c.3656+4C>T - r.spl? p.? Paternal (confirmed) g.22200895G>A g.21874402G>A - - HSPG2_000009 - - - - Germline - - - 0 - DNA SEQ-NG - - SJS-1 1 - - M - Brazil - - 0 - - 1 Karina Silveira
-?/. - c.3688G>A likely benign r.(?) p.(Gly1230Ser) Unknown g.22200473C>T - HSPG2(NM_005529.5):c.3688G>A (p.(Gly1230Ser)) - HSPG2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3707C>A - r.(?) p.(Ala1236Glu) Maternal (confirmed) g.22200454G>T g.21873961G>T - - HSPG2_000006 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.3707C>A likely benign r.(?) p.(Ala1236Glu) Unknown g.22200454G>T - HSPG2(NM_001291860.1):c.3710C>A (p.A1237E) - HSPG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3707C>A likely benign r.(?) p.(Ala1236Glu) Unknown g.22200454G>T - HSPG2(NM_001291860.1):c.3710C>A (p.A1237E) - HSPG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3707C>T likely benign r.(?) p.(Ala1236Val) Unknown g.22200454G>A - HSPG2(NM_005529.5):c.3707C>T (p.(Ala1236Val)) - HSPG2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3888+8C>T likely benign r.(=) p.(=) Unknown g.22199482G>A - HSPG2(NM_005529.5):c.3888+8C>T (p.(=)) - HSPG2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3897G>A benign r.(?) p.(=) Unknown g.22199245C>T - HSPG2(NM_005529.6):c.3897G>A (p.V1299=) - HSPG2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3967C>G likely benign r.(?) p.(Leu1323Val) Unknown g.22199175G>C - HSPG2(NM_005529.5):c.3967C>G (p.(Leu1323Val)) - HSPG2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4317C>T VUS r.(?) p.(=) Unknown g.22191856G>A - HSPG2(NM_005529.5):c.4317C>T (p.(=)) - HSPG2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 35 c.4391G>A - r.(?) p.(Arg1464Gln) Paternal (confirmed) g.22191782C>T - - - HSPG2_000099 - PubMed: Guissart 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 29656859-Pat7 PubMed: Guissart 2018 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - - 1 Johan den Dunnen
-?/. - c.4396-5C>T likely benign r.spl? p.? Unknown g.22191571G>A - HSPG2(NM_005529.5):c.4396-5C>T (p.?) - HSPG2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4466A>G likely benign r.(?) p.(Asp1489Gly) Unknown g.22191496T>C - HSPG2(NM_005529.5):c.4466A>G (p.(Asp1489Gly)) - HSPG2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4489T>A VUS r.(?) p.(Phe1497Ile) Unknown g.22191473A>T - HSPG2(NM_001291860.1):c.4492T>A (p.F1498I) - HSPG2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4508C>T benign r.(?) p.(Ala1503Val) Unknown g.22191454G>A - HSPG2(NM_005529.6):c.4508C>T (p.A1503V) - HSPG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4519A>G likely benign r.(?) p.(Ser1507Gly) Unknown g.22191443T>C - HSPG2(NM_005529.5):c.4519A>G (p.(Ser1507Gly)) - HSPG2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4568G>A likely benign r.(?) p.(Arg1523His) Unknown g.22191394C>T - HSPG2(NM_005529.5):c.4568G>A (p.(Arg1523His)) - HSPG2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4601C>G likely benign r.(?) p.(Pro1534Arg) Unknown g.22191361G>C - HSPG2(NM_005529.5):c.4601C>G (p.(Pro1534Arg)) - HSPG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del likely benign r.spl? p.? Unknown g.22190709del - HSPG2(NM_001291860.1):c.4630-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del likely benign r.spl? p.? Unknown g.22190709del - HSPG2(NM_001291860.1):c.4630-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del likely benign r.spl? p.? Unknown g.22190709del - HSPG2(NM_001291860.1):c.4630-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4877G>A likely benign r.(?) p.(Arg1626His) Unknown g.22188328C>T - HSPG2(NM_005529.5):c.4877G>A (p.(Arg1626His)) - HSPG2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4909C>T VUS r.(?) p.(Arg1637Cys) Unknown g.22188296G>A - HSPG2(NM_001291860.1):c.4912C>T (p.R1638C) - HSPG2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4910G>A likely benign r.(?) p.(Arg1637His) Unknown g.22188295C>T - HSPG2(NM_005529.5):c.4910G>A (p.(Arg1637His)) - HSPG2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4937C>T likely benign r.(?) p.(Thr1646Ile) Unknown g.22188268G>A - HSPG2(NM_005529.5):c.4937C>T (p.(Thr1646Ile)) - HSPG2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5057G>C likely benign r.(?) p.(Ser1686Thr) Unknown g.22186453C>G - HSPG2(NM_005529.5):c.5057G>C (p.(Ser1686Thr)) - HSPG2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5110C>T VUS r.(?) p.(Pro1704Ser) Unknown g.22186400G>A - HSPG2(NM_001291860.1):c.5113C>T (p.P1705S) - HSPG2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5115C>G likely benign r.(?) p.(=) Unknown g.22186395G>C - HSPG2(NM_001291860.1):c.5118C>G (p.P1706=) - HSPG2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5135G>A likely benign r.(?) p.(Arg1712His) Unknown g.22186375C>T - HSPG2(NM_005529.5):c.5135G>A (p.(Arg1712His)) - HSPG2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5160C>T benign r.(?) p.(=) Unknown g.22186350G>A - HSPG2(NM_001291860.1):c.5163C>T (p.=) - HSPG2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5296G>A likely benign r.(?) p.(Ala1766Thr) Unknown g.22183876C>T - HSPG2(NM_005529.5):c.5296G>A (p.(Ala1766Thr)) - HSPG2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5347G>A VUS r.(?) p.(Val1783Met) Unknown g.22183825C>T - HSPG2(NM_005529.5):c.5347G>A (p.(Val1783Met)) - HSPG2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5351G>A likely benign r.(?) p.(Arg1784His) Unknown g.22183821C>T - HSPG2(NM_005529.5):c.5351G>A (p.(Arg1784His)) - HSPG2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5407A>G likely benign r.(?) p.(Thr1803Ala) Unknown g.22183676T>C - HSPG2(NM_005529.5):c.5407A>G (p.(Thr1803Ala)) - HSPG2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5433C>T likely benign r.(?) p.(=) Unknown g.22183650G>A - HSPG2(NM_001291860.1):c.5436C>T (p.=) - HSPG2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5442G>A benign r.(?) p.(=) Unknown g.22183641C>T - HSPG2(NM_001291860.1):c.5445G>A (p.L1815=) - HSPG2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5486A>G likely benign r.(?) p.(Asn1829Ser) Unknown g.22183597T>C - HSPG2(NM_005529.5):c.5486A>G (p.(Asn1829Ser)) - HSPG2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5488G>A VUS r.(?) p.(Val1830Ile) Unknown g.22183595C>T - HSPG2(NM_005529.5):c.5488G>A (p.(Val1830Ile)) - HSPG2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5523C>T likely benign r.(?) p.(=) Unknown g.22183560G>A - HSPG2(NM_001291860.1):c.5526C>T (p.=) - HSPG2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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