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)     

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.-626700_*1609068del r.? p.? Unknown - pathogenic 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 r.(?) p.(Asp37Asn) Unknown - likely benign g.22222758C>T g.21896265C>T HSPG2(NM_005529.5):c.109G>A (p.(Asp37Asn)) - HSPG2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T r.(?) p.(Asp67=) Unknown - likely benign g.22222458G>A g.21895965G>A HSPG2(NM_001291860.2):c.201C>T (p.D67=) - HSPG2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324C>T r.(?) p.(Phe108=) Unknown - benign g.22217108G>A g.21890615G>A HSPG2(NM_005529.6):c.324C>T (p.F108=) - HSPG2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325C>G r.(?) p.(Arg109Gly) Unknown - likely benign g.22217107G>C g.21890614G>C HSPG2(NM_001291860.1):c.325C>G (p.R109G) - HSPG2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337G>A r.(?) p.(Glu113Lys) Unknown - VUS g.22217095C>T g.21890602C>T HSPG2(NM_001291860.1):c.337G>A (p.E113K), HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys)) - HSPG2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>A r.(?) p.(Glu113Lys) Unknown - likely benign g.22217095C>T g.21890602C>T HSPG2(NM_001291860.1):c.337G>A (p.E113K), HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys)) - HSPG2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.415G>T r.(?) p.(Glu139Ter) Unknown - VUS g.22216633C>A g.21890140C>A HSPG2(NM_001291860.1):c.415G>T (p.E139*) - HSPG2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.416A>T r.(?) p.(Glu139Val) Unknown - VUS g.22216632T>A g.21890139T>A HSPG2(NM_001291860.1):c.416A>T (p.E139V) - HSPG2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.444G>C r.(?) p.(Leu148=) Unknown - benign g.22216604C>G g.21890111C>G HSPG2(NM_005529.6):c.444G>C (p.L148=) - HSPG2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.474G>T r.(?) p.(Gly158=) Unknown - benign g.22216574C>A g.21890081C>A HSPG2(NM_005529.6):c.474G>T (p.G158=) - HSPG2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.732A>G r.(?) p.(Thr244=) Unknown - likely benign g.22214139T>C g.21887646T>C HSPG2(NM_001291860.1):c.732A>G (p.T244=) - HSPG2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745G>A r.(?) p.(Val249Met) Unknown - likely benign g.22214126C>T g.21887633C>T HSPG2(NM_005529.5):c.745G>A (p.(Val249Met)) - HSPG2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901G>A r.(?) p.(Asp301Asn) Unknown - likely benign g.22213970C>T g.21887477C>T HSPG2(NM_005529.5):c.901G>A (p.(Asp301Asn)) - HSPG2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907C>T r.(?) p.(Leu303Phe) Unknown - VUS g.22213964G>A g.21887471G>A HSPG2(NM_001291860.1):c.907C>T (p.L303F) - HSPG2_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>A r.(?) p.(Thr361Asn) Unknown - likely benign g.22211941G>T g.21885448G>T HSPG2(NM_001291860.2):c.1082C>A (p.T361N), HSPG2(NM_005529.5):c.1082C>A (p.(Thr361Asn)) - HSPG2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>A r.(?) p.(Thr361Asn) Unknown - likely benign g.22211941G>T g.21885448G>T HSPG2(NM_001291860.2):c.1082C>A (p.T361N), HSPG2(NM_005529.5):c.1082C>A (p.(Thr361Asn)) - HSPG2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123T>C r.(?) p.(Cys375Arg) Unknown - VUS g.22211900A>G g.21885407A>G HSPG2(NM_001291860.1):c.1123T>C (p.C375R) - HSPG2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>C r.(?) p.(Asp396Ala) Unknown - VUS g.22211836T>G g.21885343T>G HSPG2(NM_001291860.1):c.1187A>C (p.D396A) - HSPG2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1238G>A r.(?) p.(Arg413Gln) Unknown - likely benign g.22211623C>T g.21885130C>T HSPG2(NM_001291860.1):c.1238G>A (p.R413Q) - HSPG2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1238G>A r.(?) p.(Arg413Gln) Unknown - likely benign g.22211623C>T g.21885130C>T HSPG2(NM_001291860.1):c.1238G>A (p.R413Q) - HSPG2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1267_1270del r.(?) p.(Thr423Ter) Unknown - pathogenic g.22211594_22211597del g.21885101_21885104del HSPG2(NM_001291860.1):c.1267_1270delACAG (p.T423*) - HSPG2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557G>A r.(?) p.(Leu519=) Unknown - benign g.22211118C>T g.21884625C>T HSPG2(NM_001291860.2):c.1560G>A (p.L520=) - HSPG2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 13 c.1627C>T r.(?) p.(Arg543Cys) Paternal (confirmed) - likely benign 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 r.(?) p.(Arg543His) Unknown - VUS g.22211047C>T g.21884554C>T HSPG2(NM_001291860.1):c.1631G>A (p.R544H) - HSPG2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1707G>C r.(?) p.(Thr569=) Unknown - - g.22207943C>G - HSPG2(NM_001291860.1):c.1710G>C (p.T570=) - chr1_013954 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1818+15_1818+27del r.(=) p.(=) Unknown - benign g.22207811_22207823del g.21881318_21881330del HSPG2(NM_005529.6):c.1818+15_1818+27delCTGCCACCCTGGG - HSPG2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1843C>T r.(?) p.(Arg615Cys) Unknown - VUS g.22207304G>A g.21880811G>A HSPG2(NM_005529.5):c.1843C>T (p.(Arg615Cys)) - HSPG2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1852G>A r.(?) p.(Val618Met) Unknown - likely benign g.22207295C>T g.21880802C>T HSPG2(NM_005529.5):c.1852G>A (p.(Val618Met)) - HSPG2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903G>A r.(?) p.(Val635Met) Unknown - VUS g.22207244C>T g.21880751C>T HSPG2(NM_005529.5):c.1903G>A (p.(Val635Met)) - HSPG2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1912A>G r.(?) p.(Met638Val) Unknown - benign g.22207235T>C g.21880742T>C HSPG2(NM_005529.6):c.1912A>G (p.M638V) - HSPG2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1939C>T r.(?) p.(Arg647Ter) Unknown - pathogenic g.22207208G>A g.21880715G>A HSPG2(NM_001291860.1):c.1942C>T (p.R648*) - HSPG2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1999-13C>T r.(=) p.(=) Unknown - likely benign g.22207065G>A g.21880572G>A HSPG2(NM_005529.6):c.1999-13C>T - HSPG2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2049G>A r.(?) p.(Leu683=) Unknown - likely benign g.22207002C>T g.21880509C>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) - likely benign 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 r.(?) p.(Val692Met) Unknown - likely benign g.22206977C>T g.21880484C>T HSPG2(NM_001291860.1):c.2077G>A (p.V693M) - HSPG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2074G>A r.(?) p.(Val692Met) Parent #1 - VUS g.22206977C>T g.21880484C>T - - HSPG2_000003 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143669458 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.2109C>T r.(?) p.(Ala703=) Unknown - benign g.22206942G>A g.21880449G>A HSPG2(NM_005529.6):c.2109C>T (p.A703=) - HSPG2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2195+1G>T r.spl? p.? Unknown - likely pathogenic g.22206855C>A g.21880362C>A HSPG2(NM_005529.5):c.2195+1G>T (p.?) - HSPG2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2294A>G r.(?) p.(Asn765Ser) Unknown - benign g.22206649T>C g.21880156T>C HSPG2(NM_005529.6):c.2294A>G (p.N765S) - HSPG2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2335C>T r.(?) p.(His779Tyr) Unknown - likely benign g.22206608G>A g.21880115G>A HSPG2(NM_001291860.1):c.2338C>T (p.H780Y) - HSPG2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2335C>T r.(?) p.(His779Tyr) Unknown - VUS g.22206608G>A g.21880115G>A HSPG2(NM_001291860.1):c.2338C>T (p.H780Y) - HSPG2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2357A>G r.(?) p.(Asn786Ser) Paternal (confirmed) - pathogenic 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 r.(?) p.(Asn786Ser) Unknown - likely benign g.22205601T>C g.21879108T>C HSPG2(NM_005529.5):c.2357A>G (p.(Asn786Ser)) - HSPG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2357A>G r.(?) p.(Asn786Ser) Parent #1 - VUS g.22205601T>C g.21879108T>C - - HSPG2_000005 20 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143736974 Germline - 20/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 20 Mohammed Faruq
-?/. - c.2462C>T r.(?) p.(Ala821Val) Parent #1 - likely benign g.22205496G>A g.21879003G>A - - HSPG2_000242 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs141901178 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.2467C>T r.(?) p.(Arg823Cys) Unknown - VUS g.22205491G>A g.21878998G>A HSPG2(NM_001291860.1):c.2470C>T (p.R824C) - HSPG2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2521G>T r.(?) p.(Ala841Ser) Unknown - VUS g.22205107C>A g.21878614C>A HSPG2(NM_001291860.1):c.2524G>T (p.A842S) - HSPG2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2549G>A r.(?) p.(Arg850His) Unknown - likely benign g.22205079C>T g.21878586C>T HSPG2(NM_005529.5):c.2549G>A (p.(Arg850His)) - HSPG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2725G>A r.(?) p.(Gly909Ser) Unknown - VUS g.22203106C>T g.21876613C>T HSPG2(NM_005529.5):c.2725G>A (p.(Gly909Ser)) - HSPG2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2755G>A r.(?) p.(Asp919Asn) Unknown - likely benign g.22203076C>T g.21876583C>T HSPG2(NM_005529.5):c.2755G>A (p.(Asp919Asn)) - HSPG2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2869A>C r.(?) p.(Asn957His) Unknown - likely benign g.22202856T>G g.21876363T>G HSPG2(NM_005529.5):c.2869A>C (p.(Asn957His)) - HSPG2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2890A>T r.(?) p.(Thr964Ser) Unknown - likely benign g.22202835T>A g.21876342T>A HSPG2(NM_001291860.1):c.2893A>T (p.T965S) - HSPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2966A>G r.(?) p.(Tyr989Cys) Unknown - VUS g.22202759T>C g.21876266T>C HSPG2(NM_001291860.1):c.2969A>G (p.Y990C) - HSPG2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3029G>A r.(?) p.(Arg1010His) Unknown - VUS g.22202510C>T g.21876017C>T HSPG2(NM_001291860.1):c.3032G>A (p.R1011H) - HSPG2_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3056C>T r.(?) p.(Pro1019Leu) Unknown - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3056C>T r.(?) p.(Pro1019Leu) Unknown - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.3056C>T r.(?) p.(Pro1019Leu) Unknown - likely benign g.22202483G>A g.21875990G>A HSPG2(NM_005529.5):c.3056C>T (p.(Pro1019Leu)) - HSPG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3119_3120dup r.(?) p.(His1041SerfsTer39) Unknown - pathogenic g.22202421_22202422dup g.21875928_21875929dup - - HSPG2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3269G>A r.(?) p.(Arg1090Gln) Unknown - likely benign g.22202155C>T g.21875662C>T HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q), HSPG2(NM_001291860.2):c.3272G>A (p.R1091Q) - HSPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3269G>A r.(?) p.(Arg1090Gln) Unknown - likely benign g.22202155C>T g.21875662C>T HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q), HSPG2(NM_001291860.2):c.3272G>A (p.R1091Q) - HSPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3302+13G>A r.(=) p.(=) Unknown - benign g.22202109C>T g.21875616C>T HSPG2(NM_005529.6):c.3302+13G>A - HSPG2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3337G>A r.(?) p.(Glu1113Lys) Unknown - likely benign g.22201461C>T g.21874968C>T HSPG2(NM_001291860.1):c.3340G>A (p.E1114K) - HSPG2_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3505G>A r.(?) p.(Glu1169Lys) Unknown - VUS g.22201132C>T g.21874639C>T HSPG2(NM_001291860.1):c.3508G>A (p.E1170K), HSPG2(NM_001291860.2):c.3508G>A (p.E1170K) - HSPG2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3505G>A r.(?) p.(Glu1169Lys) Unknown - VUS g.22201132C>T g.21874639C>T HSPG2(NM_001291860.1):c.3508G>A (p.E1170K), HSPG2(NM_001291860.2):c.3508G>A (p.E1170K) - HSPG2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3557G>A r.(?) p.(Arg1186Gln) Unknown - likely benign g.22200998C>T g.21874505C>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) - likely pathogenic 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 r.(?) p.(Gly1230Ser) Unknown - likely benign g.22200473C>T g.21873980C>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) - pathogenic 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 r.(?) p.(Ala1236Glu) Unknown - likely benign g.22200454G>T g.21873961G>T HSPG2(NM_001291860.1):c.3710C>A (p.A1237E) - HSPG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3707C>T r.(?) p.(Ala1236Val) Unknown - likely benign g.22200454G>A g.21873961G>A HSPG2(NM_001291860.1):c.3710C>T (p.A1237V), HSPG2(NM_005529.5):c.3707C>T (p.(Ala1236Val)) - HSPG2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3707C>T r.(?) p.(Ala1236Val) Unknown - likely benign g.22200454G>A g.21873961G>A HSPG2(NM_001291860.1):c.3710C>T (p.A1237V), HSPG2(NM_005529.5):c.3707C>T (p.(Ala1236Val)) - HSPG2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3888+8C>T r.(=) p.(=) Unknown - likely benign g.22199482G>A g.21872989G>A HSPG2(NM_005529.5):c.3888+8C>T (p.(=)) - HSPG2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3897G>A r.(?) p.(Val1299=) Unknown - benign g.22199245C>T g.21872752C>T HSPG2(NM_005529.6):c.3897G>A (p.V1299=) - HSPG2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3967C>G r.(?) p.(Leu1323Val) Unknown - likely benign g.22199175G>C g.21872682G>C HSPG2(NM_005529.5):c.3967C>G (p.(Leu1323Val)) - HSPG2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4221+6C>T r.(=) p.(=) Unknown - likely benign g.22198673G>A g.21872180G>A HSPG2(NM_005529.5):c.4221+6C>T (p.(=)) - HSPG2_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4234G>A r.(?) p.(Gly1412Ser) Parent #1 - VUS g.22192290C>T g.21865797C>T - - HSPG2_000241 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs146184130 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.4317C>T r.(?) p.(Gly1439=) Unknown - VUS g.22191856G>A g.21865363G>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) - VUS g.22191782C>T g.21865289C>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.4489T>A r.(?) p.(Phe1497Ile) Unknown - VUS g.22191473A>T g.21864980A>T HSPG2(NM_001291860.1):c.4492T>A (p.F1498I) - HSPG2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4489T>A r.(?) p.(Phe1497Ile) Parent #1 - VUS g.22191473A>T g.21864980A>T - - HSPG2_000183 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138460117 Germline - 2/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.4508C>T r.(?) p.(Ala1503Val) Unknown - benign g.22191454G>A g.21864961G>A HSPG2(NM_005529.6):c.4508C>T (p.A1503V) - HSPG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4519A>G r.(?) p.(Ser1507Gly) Unknown - likely benign g.22191443T>C g.21864950T>C HSPG2(NM_005529.5):c.4519A>G (p.(Ser1507Gly)) - HSPG2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4601C>G r.(?) p.(Pro1534Arg) Unknown - likely benign g.22191361G>C g.21864868G>C HSPG2(NM_005529.5):c.4601C>G (p.(Pro1534Arg)) - HSPG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del r.spl? p.? Unknown - likely benign g.22190709del g.21864216del HSPG2(NM_001291860.1):c.4630-3delT, HSPG2(NM_001291860.2):c.4630-3delT, HSPG2(NM_005529.5):c.4627-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del r.spl? p.? Unknown - likely benign g.22190709del g.21864216del HSPG2(NM_001291860.1):c.4630-3delT, HSPG2(NM_001291860.2):c.4630-3delT, HSPG2(NM_005529.5):c.4627-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4627-3del r.spl? p.? Unknown - likely benign g.22190709del g.21864216del HSPG2(NM_001291860.1):c.4630-3delT, HSPG2(NM_001291860.2):c.4630-3delT, HSPG2(NM_005529.5):c.4627-3delT (p.?) - HSPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4877G>A r.(?) p.(Arg1626His) Unknown - likely benign g.22188328C>T g.21861835C>T HSPG2(NM_005529.5):c.4877G>A (p.(Arg1626His)) - HSPG2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4909C>T r.(?) p.(Arg1637Cys) Unknown - VUS g.22188296G>A g.21861803G>A HSPG2(NM_001291860.1):c.4912C>T (p.R1638C) - HSPG2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4916C>T r.(?) p.(Thr1639Met) Unknown - likely benign g.22188289G>A g.21861796G>A HSPG2(NM_005529.5):c.4916C>T (p.(Thr1639Met)) - HSPG2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4917G>C r.(?) p.(Thr1639=) Unknown - - g.22188288C>G - HSPG2(NM_001291860.1):c.4920G>C (p.T1640=) - chr1_013953 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5110C>T r.(?) p.(Pro1704Ser) Unknown - VUS g.22186400G>A g.21859907G>A HSPG2(NM_001291860.1):c.5113C>T (p.P1705S) - HSPG2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5115C>G r.(?) p.(Pro1705=) Unknown - likely benign g.22186395G>C g.21859902G>C HSPG2(NM_001291860.1):c.5118C>G (p.P1706=) - HSPG2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5135G>A r.(?) p.(Arg1712His) Unknown - likely benign g.22186375C>T g.21859882C>T HSPG2(NM_005529.5):c.5135G>A (p.(Arg1712His)) - HSPG2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5160C>T r.(?) p.(Ser1720=) Unknown - benign g.22186350G>A g.21859857G>A HSPG2(NM_001291860.1):c.5163C>T (p.S1721=), HSPG2(NM_001291860.2):c.5163C>T (p.S1721=) - HSPG2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5160C>T r.(?) p.(Ser1720=) Unknown - likely benign g.22186350G>A g.21859857G>A HSPG2(NM_001291860.1):c.5163C>T (p.S1721=), HSPG2(NM_001291860.2):c.5163C>T (p.S1721=) - HSPG2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5433C>T r.(?) p.(Asn1811=) Unknown - likely benign g.22183650G>A g.21857157G>A HSPG2(NM_001291860.2):c.5436C>T (p.N1812=) - HSPG2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5442G>A r.(?) p.(Leu1814=) Unknown - benign g.22183641C>T g.21857148C>T HSPG2(NM_001291860.1):c.5445G>A (p.L1815=) - HSPG2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5523C>T r.(?) p.(Thr1841=) Unknown - likely benign g.22183560G>A g.21857067G>A HSPG2(NM_001291860.2):c.5526C>T (p.T1842=) - HSPG2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5545G>A r.(?) p.(Asp1849Asn) Unknown - likely benign g.22183538C>T g.21857045C>T HSPG2(NM_005529.5):c.5545G>A (p.(Asp1849Asn)) - HSPG2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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