Full data view for gene SPTB

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

187 entries on 2 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.148+56G>A r.(=) p.(=) Unknown - likely benign g.65289609C>T g.64822891C>T SPTB(NM_001024858.3):c.148+56G>A - SPTB_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148+130T>C r.(=) p.(=) Unknown - benign g.65289535A>G g.64822817A>G SPTB(NM_001024858.3):c.148+130T>C - SPTB_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148+131C>T r.(=) p.(=) Unknown - benign g.65289534G>A g.64822816G>A SPTB(NM_001024858.3):c.148+131C>T - SPTB_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177C>T r.(?) p.(Thr59=) Unknown - benign g.65271780G>A g.64805062G>A SPTB(NM_001024858.3):c.177C>T (p.T59=) - SPTB_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(=) Unknown - likely benign g.65271753C>T - SPTB(NM_001355436.2):c.204G>A (p.L68=) - SPTB_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+7T>C r.(=) p.(=) Unknown - benign g.65271650A>G g.64804932A>G SPTB(NM_001024858.3):c.300+7T>C - SPTB_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+23C>T r.(=) p.(=) Unknown - benign g.65271634G>A g.64804916G>A SPTB(NM_001024858.3):c.300+23C>T - SPTB_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+24G>A r.(=) p.(=) Unknown - benign g.65271633C>T g.64804915C>T SPTB(NM_001024858.3):c.300+24G>A - SPTB_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+57G>T r.(=) p.(=) Unknown - benign g.65271600C>A g.64804882C>A SPTB(NM_001024858.3):c.300+57G>T - SPTB_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+140G>A r.(=) p.(=) Unknown - benign g.65271517C>T g.64804799C>T SPTB(NM_001024858.3):c.300+140G>A - SPTB_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.300+177T>C r.(=) p.(=) Unknown - benign g.65271480A>G g.64804762A>G SPTB(NM_001024858.3):c.300+177T>C - SPTB_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301-29T>C r.(=) p.(=) Unknown - benign g.65270527A>G g.64803809A>G SPTB(NM_001024858.3):c.301-29T>C - SPTB_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301-18G>A r.(=) p.(=) Unknown - benign g.65270516C>T g.64803798C>T SPTB(NM_001024858.3):c.301-18G>A - SPTB_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345T>C r.(?) p.(Asn115=) Unknown - benign g.65270454A>G g.64803736A>G SPTB(NM_001024858.3):c.345T>C (p.N115=) - SPTB_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408C>T r.(?) p.(His136=) Unknown - benign g.65270391G>A g.64803673G>A SPTB(NM_001024858.3):c.408C>T (p.H136=) - SPTB_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474+53G>T r.(=) p.(=) Unknown - benign g.65270272C>A g.64803554C>A SPTB(NM_001024858.3):c.474+53G>T - SPTB_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474+103T>C r.(=) p.(=) Unknown - benign g.65270222A>G g.64803504A>G SPTB(NM_001024858.3):c.474+103T>C - SPTB_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474+110del r.(=) p.(=) Unknown - benign g.65270216del g.64803498del SPTB(NM_001024858.3):c.474+110delA - SPTB_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.544T>G r.(?) p.(Trp182Gly) Unknown - pathogenic g.65268966A>C g.64802248A>C SPTB(NM_001024858.3):c.544T>G (p.W182G) - SPTB_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560C>T r.(?) p.(Thr187Met) Unknown - VUS g.65268950G>A - SPTB(NM_001355436.2):c.560C>T (p.(Thr187Met)) - SPTB_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.567-166T>C r.(=) p.(=) Unknown - benign g.65268718A>G g.64802000A>G SPTB(NM_001024858.3):c.567-166T>C - SPTB_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.567-53T>C r.(=) p.(=) Unknown - benign g.65268605A>G g.64801887A>G SPTB(NM_001024858.3):c.567-53T>C - SPTB_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580A>T r.(?) p.(Asn194Tyr) Unknown - VUS g.65268539T>A - SPTB(NM_001024858.2):c.580A>T (p.(Asn194Tyr)) - SPTB_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.606G>A r.(?) p.(Trp202*) Unknown - pathogenic g.65268513C>T - SPTB(NM_001024858.3):c.606G>A (p.W202*) - SPTB_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.609G>A r.(?) p.(Lys203=) Unknown - benign g.65268510C>T g.64801792C>T SPTB(NM_001024858.3):c.609G>A (p.K203=) - SPTB_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647+21G>A r.(=) p.(=) Unknown - benign g.65268451C>T g.64801733C>T SPTB(NM_001024858.3):c.647+21G>A - SPTB_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647+68C>A r.(=) p.(=) Unknown - benign g.65268404G>T g.64801686G>T SPTB(NM_001024858.3):c.647+68C>A - SPTB_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647+148T>A r.(=) p.(=) Unknown - benign g.65268324A>T g.64801606A>T SPTB(NM_001024858.3):c.647+148T>A - SPTB_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.648-113C>T r.(=) p.(=) Unknown - benign g.65268231G>A g.64801513G>A SPTB(NM_001024858.3):c.648-113C>T - SPTB_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.648-49G>A r.(=) p.(=) Unknown - benign g.65268167C>T g.64801449C>T SPTB(NM_001024858.3):c.648-49G>A - SPTB_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666T>C r.(?) p.(Phe222=) Unknown - benign g.65268100A>G g.64801382A>G SPTB(NM_001024858.3):c.666T>C (p.F222=) - SPTB_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696C>T r.(?) p.(His232=) Unknown - likely benign g.65268070G>A - SPTB(NM_001024858.3):c.696C>T (p.H232=) - SPTB_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.764-24dup r.(=) p.(=) Unknown - benign g.65267610dup g.64800892dup SPTB(NM_001024858.3):c.764-25_764-24insA - SPTB_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876+5A>G r.spl? p.? Unknown - benign g.65267469T>C g.64800751T>C SPTB(NM_001024858.3):c.876+5A>G - SPTB_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.964A>G r.(?) p.(Ile322Val) Unknown - likely benign g.65266565T>C - SPTB(NM_001024858.2):c.964A>G (p.(Ile322Val)), SPTB(NM_001355436.2):c.964A>G (p.I322V) - SPTB_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.964A>G r.(?) p.(Ile322Val) Unknown - VUS g.65266565T>C - SPTB(NM_001024858.2):c.964A>G (p.(Ile322Val)), SPTB(NM_001355436.2):c.964A>G (p.I322V) - SPTB_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.996C>T r.(?) p.(Asn332=) Unknown - benign g.65266533G>A g.64799815G>A SPTB(NM_001024858.3):c.996C>T (p.N332=) - SPTB_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008C>T r.(?) p.(=) Unknown - likely benign g.65266521G>A - SPTB(NM_001355436.2):c.1008C>T (p.G336=) - SPTB_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1064A>C r.(?) p.(Lys355Thr) Unknown - VUS g.65266465T>G - SPTB(NM_001024858.3):c.1064A>C (p.K355T) - SPTB_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1179_1182+17del r.(?) p.(Leu388_Arg394del) Unknown - likely pathogenic g.65264430_65264450del - SPTB(NM_001024858.2):c.1179_1182+17delCAGGGTACCACAGCATTTTCC (p.(Asn393fs)) - SPTB_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1182+225C>T r.(=) p.(=) Unknown - benign g.65264222G>A g.64797504G>A SPTB(NM_001024858.3):c.1182+225C>T - SPTB_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1183-158dup r.(=) p.(=) Unknown - benign g.65263593dup g.64796875dup SPTB(NM_001024858.3):c.1183-158dupA - SPTB_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1269G>A r.(?) p.(Leu423=) Unknown - benign g.65263347C>T g.64796629C>T SPTB(NM_001024858.3):c.1269G>A (p.L423=) - SPTB_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1293C>T r.(?) p.(Ala431=) Unknown - likely benign g.65263323G>A - SPTB(NM_001024858.3):c.1293C>T (p.A431=) - SPTB_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1303G>C r.(?) p.(Glu435Gln) Unknown - VUS g.65263313C>G - SPTB(NM_001024858.3):c.1303G>C (p.E435Q) - SPTB_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1316G>A r.(?) p.(Ser439Asn) Unknown - benign g.65263300C>T g.64796582C>T SPTB(NM_001024858.3):c.1316G>A (p.S439N) - SPTB_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1341+101C>T r.(=) p.(=) Unknown - benign g.65263174G>A g.64796456G>A SPTB(NM_001024858.3):c.1341+101C>T - SPTB_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1342-68G>T r.(=) p.(=) Unknown - benign g.65262425C>A g.64795707C>A SPTB(NM_001024858.3):c.1342-68G>T - SPTB_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1508del r.(?) p.(Lys503Argfs*70) Unknown - pathogenic g.65262192del - SPTB(NM_001355436.2):c.1508delA (p.K503Rfs*70) - SPTB_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1606G>A r.(?) p.(Asp536Asn) Unknown - VUS g.65262093C>T - SPTB(NM_001024858.2):c.1606G>A (p.(Asp536Asn)) - SPTB_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1623C>T r.(?) p.(Ile541=) Unknown - likely benign g.65262076G>A g.64795358G>A SPTB(NM_001024858.3):c.1623C>T (p.I541=) - SPTB_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1645-68G>T r.(=) p.(=) Unknown - benign g.65261403C>A g.64794685C>A SPTB(NM_001024858.3):c.1645-68G>T - SPTB_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1714_1723del r.(?) p.(Met573ThrfsTer9) Unknown - pathogenic g.65261260_65261269del g.64794542_64794551del SPTB(NM_001024858.3):c.1714_1723delTTGATGGAAG (p.M573Tfs*9) - SPTB_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1740A>G r.(?) p.(Gln580=) Unknown - likely benign g.65261240T>C - SPTB(NM_001024858.3):c.1740A>G (p.Q580=) - SPTB_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1765G>A r.(?) p.(Ala589Thr) Unknown - benign g.65261215C>T g.64794497C>T SPTB(NM_001024858.3):c.1765G>A (p.A589T) - SPTB_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1773C>G r.(?) p.(Thr591=) Unknown - likely benign g.65261207G>C - SPTB(NM_001024858.3):c.1773C>G (p.T591=) - SPTB_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1786G>A r.(?) p.(Glu596Lys) Unknown - likely benign g.65261194C>T g.64794476C>T SPTB(NM_001024858.3):c.1786G>A (p.E596K) - SPTB_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1838G>T r.(?) p.(Ser613Ile) Unknown - benign g.65260543C>A g.64793825C>A SPTB(NM_001024858.3):c.1838G>T (p.S613I) - SPTB_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1838G>T r.(?) p.(Ser613Ile) Parent #1 - likely benign g.65260543C>A g.64793825C>A - - SPTB_000073 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3742601 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
+/. - c.1912C>T r.(?) p.(Arg638*) Unknown - pathogenic g.65260469G>A - SPTB(NM_001355436.2):c.1912C>T (p.R638*) - SPTB_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2060G>A r.(?) p.(Arg687His) Parent #1 - likely benign g.65260321C>T g.64793603C>T - - SPTB_000135 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3742602 Germline - 18/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
-?/. - c.2136G>A r.(?) p.(Pro712=) Unknown - likely benign g.65260245C>T g.64793527C>T SPTB(NM_001024858.3):c.2136G>A (p.P712=) - SPTB_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2137C>T r.(?) p.(Gln713Ter) Unknown - pathogenic g.65260244G>A g.64793526G>A SPTB(NM_001024858.3):c.2137C>T (p.Q713*) - SPTB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2154A>C r.(?) p.(Ile718=) Unknown - benign g.65260227T>G g.64793509T>G SPTB(NM_001024858.3):c.2154A>C (p.I718=) - SPTB_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2387G>A r.(?) p.(Arg796His) Unknown - VUS g.65259994C>T - SPTB(NM_001355436.2):c.2387G>A (p.(Arg796His)) - SPTB_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2464C>T r.(?) p.(Arg822Trp) Unknown - VUS g.65259917G>A - SPTB(NM_001024858.2):c.2464C>T (p.(Arg822Trp)) - SPTB_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2480G>A r.(?) p.(Arg827Gln) Unknown - VUS g.65259901C>T g.64793183C>T SPTB(NM_001024858.3):c.2480G>A (p.R827Q) - SPTB_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2562C>T r.(?) p.(Phe854=) Unknown - benign g.65259819G>A g.64793101G>A SPTB(NM_001024858.3):c.2562C>T (p.F854=) - SPTB_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2562_2563insCTGTACAC r.(?) p.(Gly855Leufs*46) Unknown - pathogenic g.65259819_65259820insTGTACAGG - SPTB(NM_001355436.2):c.2562_2563insCTGTACAC (p.G855Lfs*46) - SPTB_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2666+94G>T r.(=) p.(=) Unknown - benign g.65259621C>A g.64792903C>A SPTB(NM_001024858.3):c.2666+94G>T - SPTB_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2666+134C>A r.(=) p.(=) Unknown - benign g.65259581G>T g.64792863G>T SPTB(NM_001024858.3):c.2666+134C>A - SPTB_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2667-70G>C r.(=) p.(=) Unknown - benign g.65258644C>G g.64791926C>G SPTB(NM_001024858.3):c.2667-70G>C - SPTB_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2758C>A r.(?) p.(Pro920Thr) Unknown - VUS g.65258483G>T - SPTB(NM_001024858.3):c.2758C>A (p.P920T) - SPTB_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2805-129del r.(=) p.(=) Unknown - benign g.65254017del g.64787299del SPTB(NM_001024858.3):c.2805-129delT - SPTB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2805-22G>A r.(=) p.(=) Unknown - likely benign g.65253900C>T g.64787182C>T SPTB(NM_001024858.3):c.2805-22G>A - SPTB_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2934G>A r.(?) p.(Glu978=) Unknown - benign g.65253749C>T g.64787031C>T SPTB(NM_001024858.3):c.2934G>A (p.E978=) - SPTB_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2934G>A r.(=) p.(=) Parent #1 - likely benign g.65253749C>T g.64787031C>T - - SPTB_000065 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72724498 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.3103C>T r.(?) p.(Arg1035Trp) Unknown - VUS g.65253580G>A - SPTB(NM_001024858.2):c.3103C>T (p.(Arg1035Trp)), SPTB(NM_001024858.3):c.3103C>T (p.R1035W) - SPTB_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3103C>T r.(?) p.(Arg1035Trp) Unknown - likely benign g.65253580G>A - SPTB(NM_001024858.2):c.3103C>T (p.(Arg1035Trp)), SPTB(NM_001024858.3):c.3103C>T (p.R1035W) - SPTB_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3334G>A r.(?) p.(Gly1112Arg) Unknown - likely benign g.65253349C>T - SPTB(NM_001024858.3):c.3334G>A (p.G1112R) - SPTB_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3449G>A r.(?) p.(Trp1150Ter) Unknown - pathogenic g.65253234C>T g.64786516C>T SPTB(NM_001024858.3):c.3449G>A (p.W1150*) - SPTB_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3451A>G r.(?) p.(Asn1151Asp) Unknown - benign g.65253232T>C g.64786514T>C SPTB(NM_001024858.3):c.3451A>G (p.N1151D) - SPTB_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3479G>A r.(?) p.(Arg1160His) Unknown - VUS g.65253204C>T - SPTB(NM_001024858.2):c.3479G>A (p.(Arg1160His)) - SPTB_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3479G>A r.(?) p.(Arg1160His) Unknown - VUS g.65253204C>T - SPTB(NM_001024858.2):c.3479G>A (p.(Arg1160His)) - SPTB_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3562-179G>A r.(=) p.(=) Unknown - benign g.65252848C>T g.64786130C>T SPTB(NM_001024858.3):c.3562-179G>A - SPTB_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3562-64G>T r.(=) p.(=) Unknown - likely benign g.65252733C>A g.64786015C>A SPTB(NM_001024858.3):c.3562-64G>T - SPTB_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3562-63G>T r.(=) p.(=) Unknown - benign g.65252732C>A g.64786014C>A SPTB(NM_001024858.3):c.3562-63G>T - SPTB_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3764+24G>A r.(=) p.(=) Unknown - benign g.65252443C>T g.64785725C>T SPTB(NM_001024858.3):c.3764+24G>A - SPTB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3855+67G>A r.(=) p.(=) Unknown - benign g.65252188C>T g.64785470C>T SPTB(NM_001024858.3):c.3855+67G>A - SPTB_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3855+140A>G r.(=) p.(=) Unknown - benign g.65252115T>C g.64785397T>C SPTB(NM_001024858.3):c.3855+140A>G - SPTB_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3855+160C>A r.(=) p.(=) Unknown - benign g.65252095G>T g.64785377G>T SPTB(NM_001024858.3):c.3855+160C>A - SPTB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3855+184_3855+185del r.(=) p.(=) Unknown - benign g.65252080_65252081del g.64785362_64785363del SPTB(NM_001024858.3):c.3855+184_3855+185delTT - SPTB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3855+185del r.(=) p.(=) Unknown - benign g.65252081del g.64785363del SPTB(NM_001024858.3):c.3855+185delT - SPTB_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3856-120_3856-119del r.(=) p.(=) Unknown - benign g.65251233_65251234del g.64784515_64784516del SPTB(NM_001024858.3):c.3856-120_3856-119delCT - SPTB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3916C>T r.(?) p.(Arg1306*) Unknown - pathogenic g.65251051G>A - SPTB(NM_001355436.2):c.3916C>T (p.R1306*) - SPTB_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3917G>A r.(?) p.(Arg1306Gln) Unknown - VUS g.65251050C>T - SPTB(NM_001024858.2):c.3917G>A (p.(Arg1306Gln)) - SPTB_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3970_3986del r.(?) p.(Ser1324Argfs*13) Unknown - pathogenic g.65250986_65251002del - SPTB(NM_001024858.3):c.3970_3986delTCCCATGAAGGGTGGCT (p.S1324Rfs*13) - SPTB_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4002+26T>C r.(=) p.(=) Unknown - benign g.65250939A>G g.64784221A>G SPTB(NM_001024858.3):c.4002+26T>C - SPTB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4002+137G>A r.(=) p.(=) Unknown - benign g.65250828C>T g.64784110C>T SPTB(NM_001024858.3):c.4002+137G>A - SPTB_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4003-12T>C r.(=) p.(=) Unknown - benign g.65249283A>G g.64782565A>G SPTB(NM_001024858.3):c.4003-12T>C - SPTB_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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