Full data view for gene HSPG2

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

485 entries on 5 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 - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>A r.(?) p.(Asp68Glu) Unknown - likely benign g.22222455G>T g.21895962G>T HSPG2(NM_001291860.1):c.204C>A (p.D68E, p.(Asp68Glu)) - HSPG2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>A r.(?) p.(Asp68Glu) Unknown - likely benign g.22222455G>T - HSPG2(NM_001291860.1):c.204C>A (p.D68E, p.(Asp68Glu)) - HSPG2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>G r.(?) p.(Ala86Gly) Unknown - VUS g.22217175G>C - HSPG2(NM_005529.7):c.257C>G (p.A86G) - HSPG2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324C>T r.(?) p.(Phe108=) Unknown - benign g.22217108G>A g.21890615G>A HSPG2(NM_005529.7):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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.392T>C r.(?) p.(Val131Ala) Unknown - likely benign g.22216941A>G - HSPG2(NM_001291860.1):c.392T>C (p.(Val131Ala)) - HSPG2_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444G>C r.(?) p.(Leu148=) Unknown - benign g.22216604C>G g.21890111C>G HSPG2(NM_005529.7):c.444G>C (p.L148=) - HSPG2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.467C>T r.(?) p.(Ala156Val) Unknown - likely benign g.22216581G>A - HSPG2(NM_001291860.1):c.467C>T (p.(Ala156Val)) - HSPG2_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.470A>G r.(?) p.(Asp157Gly) Unknown - VUS g.22216578T>C - HSPG2(NM_005529.7):c.470A>G (p.(Asp157Gly)) - HSPG2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474G>T r.(?) p.(Gly158=) Unknown - benign g.22216574C>A g.21890081C>A HSPG2(NM_005529.7):c.474G>T (p.G158=) - HSPG2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598A>T r.(?) p.(Thr200Ser) Unknown - likely benign g.22214536T>A - HSPG2(NM_005529.5):c.598A>T (p.(Thr200Ser)) - HSPG2_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662G>A r.(?) p.(Arg221Gln) Unknown - likely benign g.22214472C>T - HSPG2(NM_001291860.1):c.662G>A (p.R221Q) - HSPG2_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670G>A r.(?) p.(Asp224Asn) Unknown - VUS g.22214464C>T - HSPG2(NM_005529.7):c.670G>A (p.(Asp224Asn)) - HSPG2_000444 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_005529.6):c.732A>G (p.T244=) - HSPG2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732A>G r.(?) p.(Thr244=) Unknown - likely benign g.22214139T>C - HSPG2(NM_001291860.1):c.732A>G (p.T244=), HSPG2(NM_005529.6):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.811G>A r.(?) p.(Ala271Thr) Unknown - VUS g.22214060C>T - HSPG2(NM_005529.5):c.811G>A (p.(Ala271Thr)) - HSPG2_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.862del r.(?) p.(Gln288Argfs*30) Unknown - likely pathogenic g.22214012del - HSPG2(NM_005529.5):c.862delC (p.(Gln288fs)) - HSPG2_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877C>T r.(?) p.(Arg293Cys) Unknown - VUS g.22213994G>A - HSPG2(NM_005529.7):c.877C>T (p.(Arg293Cys)) - HSPG2_000443 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.913G>A r.(?) p.(Asp305Asn) Unknown - VUS g.22213958C>T - HSPG2(NM_005529.7):c.913G>A (p.(Asp305Asn)) - HSPG2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.959-5C>T r.spl? p.? Unknown - likely benign g.22213832G>A - HSPG2(NM_005529.6):c.959-5C>T - HSPG2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1048T>C r.(?) p.(Cys350Arg) Unknown - VUS g.22213738A>G - HSPG2(NM_005529.7):c.1048T>C (p.(Cys350Arg)) - HSPG2_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>A r.(?) p.(Thr361Asn) Unknown - likely benign g.22211941G>T g.21885448G>T HSPG2(NM_001291860.1):c.1082C>A (p.T361N, p.(Thr361Asn)) - HSPG2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1082C>A r.(?) p.(Thr361Asn) Unknown - VUS g.22211941G>T - HSPG2(NM_001291860.1):c.1082C>A (p.T361N, 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>C r.(?) p.(Asp396Ala) Unknown - VUS g.22211836T>G g.21885343T>G HSPG2(NM_001291860.1):c.1187A>C (p.D396A), HSPG2(NM_005529.5):c.1187A>C (p.(Asp396Ala)) - HSPG2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>C r.(?) p.(Asp396Ala) Unknown - VUS g.22211836T>G - HSPG2(NM_001291860.1):c.1187A>C (p.D396A), HSPG2(NM_005529.5):c.1187A>C (p.(Asp396Ala)) - HSPG2_000085 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, p.(Arg413Gln)), HSPG2(NM_001291860.2):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, p.(Arg413Gln)), HSPG2(NM_001291860.2):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, p.(Arg413Gln)), HSPG2(NM_001291860.2):c.1238G>A (p.R413Q) - HSPG2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259G>A r.(?) p.(Arg420Gln) Unknown - likely benign g.22211602C>T g.21885109C>T HSPG2(NM_005529.7):c.1259G>A (p.(Arg420Gln)) - HSPG2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1267_1270del r.(?) p.(Thr423Ter) Unknown - pathogenic g.22211594_22211597del g.21885101_21885104del HSPG2(NM_001291860.2):c.1267_1270delACAG (p.T423*) - HSPG2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1371C>A r.(?) p.(Ser457Arg) Unknown - VUS g.22211396G>T - HSPG2(NM_005529.7):c.1371C>A (p.(Ser457Arg)) - HSPG2_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1450G>A r.(?) p.(Ala484Thr) Unknown - likely benign g.22211317C>T - HSPG2(NM_001291860.1):c.1450G>A (p.A484T) - HSPG2_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1454G>A r.(?) p.(Arg485Gln) Unknown - likely benign g.22211313C>T - HSPG2(NM_005529.5):c.1454G>A (p.(Arg485Gln)) - HSPG2_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480G>A r.(?) p.(Gly494Ser) Unknown - likely benign g.22211287C>T - HSPG2(NM_005529.5):c.1480G>A (p.(Gly494Ser)) - HSPG2_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557G>A r.(?) p.(Leu519=) Unknown - likely benign g.22211118C>T - HSPG2(NM_001291860.1):c.1560G>A (p.L520=), HSPG2(NM_005529.7):c.1557G>A (p.(Leu519=)) - HSPG2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557G>A r.(?) p.(Leu519=) Unknown - likely benign g.22211118C>T - HSPG2(NM_001291860.1):c.1560G>A (p.L520=), HSPG2(NM_005529.7):c.1557G>A (p.(Leu519=)) - HSPG2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - likely benign g.22211072G>A - HSPG2(NM_005529.7):c.1603C>T (p.(Arg535Cys)) - HSPG2_000375 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 - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Aruba - - - - - 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.1654+15G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.22211006C>T g.21884513C>T - - HSPG2_000351 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat40 PubMed: Westra 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1707G>C r.(?) p.(Thr569=) Unknown - likely benign g.22207943C>G - HSPG2(NM_001291860.1):c.1710G>C (p.T570=) - HSPG2_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1818+15_1818+27del r.(=) p.(=) Unknown - benign g.22207811_22207823del g.21881318_21881330del HSPG2(NM_005529.7):c.1818+15_1818+27delCTGCCACCCTGGG - HSPG2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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(NM_005529.7):c.1903G>A (p.V635M) - HSPG2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903G>A r.(?) p.(Val635Met) Unknown - VUS g.22207244C>T - HSPG2(NM_005529.5):c.1903G>A (p.(Val635Met)), HSPG2(NM_005529.7):c.1903G>A (p.V635M) - 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_005529.7):c.1912A>G (p.M638V) - HSPG2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1933C>T r.(?) p.(Leu645Phe) Unknown - VUS g.22207214G>A - HSPG2(NM_005529.7):c.1933C>T (p.(Leu645Phe)) - HSPG2_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1940G>A r.(?) p.(Arg647Gln) Unknown - likely pathogenic g.94490591C>T g.94025035C>T c.4553G>A; p.Ser1518Asn - ABCA4_001249 Ocular disease gene; heterozygous variant PubMed: Wan 2018 - - Unknown ? - - - - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0011 PubMed: Wan 2018 - ? - China Han Chinese - - - - 1 LOVD
-?/. - c.1998+9C>T r.(=) p.(=) Unknown - likely benign g.22207140G>A - HSPG2(NM_001291860.1):c.2001+9C>T, HSPG2(NM_005529.7):c.1998+9C>T - HSPG2_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1998+9C>T r.(=) p.(=) Unknown - likely benign g.22207140G>A - HSPG2(NM_001291860.1):c.2001+9C>T, HSPG2(NM_005529.7):c.1998+9C>T - HSPG2_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2027C>T r.(?) p.(Pro676Leu) Unknown - VUS g.22207024G>A - HSPG2(NM_001291860.1):c.2030C>T (p.(Pro677Leu)) - HSPG2_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Aruba - - - - - 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, p.(Val693Met)) - HSPG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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) PubMed: Narang 2020, Journal: Narang 2020 - rs143669458 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.2074G>A r.(?) p.(Val692Met) Unknown - likely benign g.22206977C>T - HSPG2(NM_001291860.1):c.2077G>A (p.V693M, p.(Val693Met)) - HSPG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2092T>C r.(?) p.(Tyr698His) Unknown - VUS g.22206959A>G - HSPG2(NM_005529.7):c.2092T>C (p.(Tyr698His)) - HSPG2_000441 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2109C>T r.(?) p.(Ala703=) Unknown - benign g.22206942G>A g.21880449G>A HSPG2(NM_005529.7):c.2109C>T (p.A703=) - HSPG2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2260G>A r.(?) p.(Gly754Ser) Unknown - likely benign g.22206683C>T - HSPG2(NM_001291860.1):c.2263G>A (p.(Gly755Ser)) - HSPG2_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2294A>G r.(?) p.(Asn765Ser) Unknown - benign g.22206649T>C g.21880156T>C HSPG2(NM_005529.7):c.2294A>G (p.N765S) - HSPG2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_001291860.2):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(NM_001291860.2):c.2338C>T (p.H780Y) - HSPG2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2343G>A r.(?) p.(=) Unknown - VUS g.22206600C>T - HSPG2(NM_005529.7):c.2343G>A (p.(Leu781=)) - HSPG2_000440 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 - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.2357A>G r.(?) p.(Asn786Ser) Unknown - likely benign g.22205601T>C g.21879108T>C HSPG2(NM_001291860.1):c.2360A>G (p.(Asn787Ser)) - 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) PubMed: Narang 2020, Journal: Narang 2020 - rs143736974 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
-?/. - c.2462C>T r.(?) p.(Ala821Val) Parent #1 - likely benign g.22205496G>A g.21879003G>A - - HSPG2_000242 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141901178 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 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(NM_005529.7):c.2467C>T (p.(Arg823Cys)) - HSPG2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2467C>T r.(?) p.(Arg823Cys) Unknown - VUS g.22205491G>A - HSPG2(NM_001291860.1):c.2470C>T (p.R824C), HSPG2(NM_005529.7):c.2467C>T (p.(Arg823Cys)) - 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.2558+9G>A r.(=) p.(=) Unknown - likely benign g.22205061C>T - HSPG2(NM_005529.7):c.2558+9G>A - HSPG2_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2596G>A r.(?) p.(Gly866Ser) Unknown - likely benign g.22204947C>T g.21878454C>T HSPG2(NM_005529.5):c.2596G>A (p.(Gly866Ser)) - HSPG2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628T>A r.(?) p.(Ile876=) Unknown - likely benign g.22204736A>T - HSPG2(NM_001291860.1):c.2631T>A (p.I877=) - HSPG2_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2633G>A r.(?) p.(Arg878His) Unknown - VUS g.22204731C>T - HSPG2(NM_005529.5):c.2633G>A (p.(Arg878His)) - HSPG2_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685+8T>G r.(=) p.(=) Unknown - likely benign g.22204671A>C - HSPG2(NM_005529.5):c.2685+8T>G (p.(=)) - HSPG2_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2725G>A r.(?) p.(Gly909Ser) Unknown - VUS g.22203106C>T g.21876613C>T HSPG2(NM_001291860.1):c.2728G>A (p.(Gly910Ser)) - 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.2850T>C r.(?) p.(Pro950=) Unknown - likely benign g.22202875A>G - HSPG2(NM_005529.6):c.2850T>C (p.P950=) - HSPG2_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2869A>C r.(?) p.(Asn957His) Unknown - likely benign g.22202856T>G g.21876363T>G HSPG2(NM_001291860.1):c.2872A>C (p.(Asn958His)) - 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(NM_005529.7):c.2890A>T (p.(Thr964Ser)) - HSPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2890A>T r.(?) p.(Thr964Ser) Unknown - VUS g.22202835T>A - HSPG2(NM_001291860.1):c.2893A>T (p.T965S), HSPG2(NM_005529.7):c.2890A>T (p.(Thr964Ser)) - HSPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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.2987G>A r.(?) p.(Arg996His) Unknown - VUS g.22202738C>T - HSPG2(NM_005529.7):c.2987G>A (p.(Arg996His)) - HSPG2_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2998G>A r.(?) p.(Asp1000Asn) Unknown - VUS g.22202727C>T g.21876234C>T HSPG2(NM_001291860.1):c.3001G>A (p.(Asp1001Asn)) - HSPG2_000075 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 - - - - - - - - - - - - - - - - - - - - - - -
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