Unique variants in the OBSL1 gene

Information The variants shown are described using the NM_015311.2 transcript reference sequence.

117 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-4229C>G r.(?) p.(=) - VUS g.220440183G>C g.219575461G>C INHA(NM_002191.3):c.1036G>C (p.(Gly346Arg)) - INHA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-4025G>A r.(?) p.(=) - likely benign g.220439979C>T - INHA(NM_002191.4):c.832C>T (p.R278W) - INHA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3959G>A r.(?) p.(=) - VUS g.220439913C>T g.219575191C>T INHA(NM_002191.3):c.766C>T (p.(Pro256Ser)) - INHA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-3680C>T r.(?) p.(=) - likely benign g.220439634G>A g.219574912G>A INHA(NM_002191.3):c.487G>A (p.(Val163Met)) - INHA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1349G>A r.(?) p.(=) - likely benign g.220437303C>T - INHA(NM_002191.4):c.207C>T (p.H69=) - INHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-1320G>A r.(?) p.(=) - likely pathogenic g.220437274C>T g.219572552C>T - - INHA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.119C>G r.(?) p.(Pro40Arg) - likely benign g.220435836G>C g.219571114G>C OBSL1(NM_001173408.1):c.119C>G (p.(Pro40Arg)) - OBSL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.202G>A r.(?) p.(Gly68Ser) - likely benign g.220435753C>T - OBSL1(NM_001173408.1):c.202G>A (p.(Gly68Ser)) - INHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.255_629del r.(?) p.(Ala90_Ala214del) - likely pathogenic (recessive) g.220435326_220435700del g.219570604_219570978del NM_015311.2:c.268_642del:p.(Ala90_Ala214del) - OBSL1_000067 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
?/. 1 - c.458G>A r.(?) p.(Gly153Asp) - VUS g.220435497C>T - OBSL1(NM_015311.2):c.458G>A (p.G153D) - INHA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.518del r.(?) p.(Asp173AlafsTer85) - VUS g.220435437del g.219570715del OBSL1(NM_001173408.1):c.518delA (p.(Asp173AlafsTer85)) - INHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.569C>G r.(?) p.(Ala190Gly) - likely benign g.220435386G>C - OBSL1(NM_001173408.1):c.569C>G (p.(Ala190Gly)) - INHA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.580C>T r.(?) p.(Leu194=) - benign g.220435375G>A g.219570653G>A OBSL1(NM_015311.3):c.580C>T (p.L194=) - OBSL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.593C>A r.(?) p.(Ala198Glu) - likely benign g.220435362G>T - OBSL1(NM_001173408.1):c.593C>A (p.(Ala198Glu)) - INHA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.622G>A r.(?) p.(Val208Met) - likely benign g.220435333C>T g.219570611C>T OBSL1(NM_001173408.1):c.622G>A (p.(Val208Met)) - INHA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.707del r.(?) p.(Asp236Thrfs*22) - pathogenic (recessive) g.220435250del g.219570528del 706delG - OBSL1_000068 - - - - Germline - - - - - Xiuli Zhao
-?/. 1 - c.751G>T r.(?) p.(Ala251Ser) - likely benign g.220435204C>A - OBSL1(NM_001173408.1):c.751G>T (p.(Ala251Ser)) - INHA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.752C>T r.(?) p.(Ala251Val) - VUS g.220435203G>A g.219570481G>A OBSL1(NM_015311.3):c.752C>T (p.A251V) - INHA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.892C>T r.(?) p.(Arg298Cys) - VUS g.220435063G>A g.219570341G>A OBSL1(NM_001173408.1):c.892C>T (p.(Arg298Cys)) - INHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.921T>C r.(?) p.(Leu307=) - benign g.220435034A>G g.219570312A>G OBSL1(NM_015311.3):c.921T>C (p.L307=) - OBSL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.951C>A r.(?) p.(Tyr317*) - likely pathogenic (recessive) g.220435004G>T g.219570282G>T NM_015311.2:c.951C>A:p.(Tyr317*) - OBSL1_000066 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
-?/. 1 - c.955T>G r.(?) p.(Cys319Gly) - likely benign g.220435000A>C g.219570278A>C OBSL1(NM_015311.2):c.955T>G (p.C319G) - INHA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.962C>T r.(?) p.(Ala321Val) - VUS g.220434993G>A - OBSL1(NM_001173408.1):c.962C>T (p.(Ala321Val)) - INHA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.984G>T r.(?) p.(Thr328=) - likely benign g.220434971C>A g.219570249C>A OBSL1(NM_015311.2):c.984G>T (p.T328=) - INHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.992C>A r.(?) p.(Ala331Asp) - VUS g.220434963G>T - OBSL1(NM_001173408.1):c.992C>A (p.(Ala331Asp)) - INHA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1065C>T r.(?) p.(His355=) - likely benign g.220432994G>A - OBSL1(NM_015311.2):c.1065C>T (p.H355=) - INHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1102C>T r.(?) p.(Arg368Cys) - benign, likely benign g.220432957G>A g.219568235G>A OBSL1(NM_001173408.1):c.1102C>T (p.(Arg368Cys)) - OBSL1_000017 61 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs35009641 CLASSIFICATION record, Germline - 61/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.1228T>C r.(?) p.(Tyr410His) - VUS g.220432831A>G - OBSL1(NM_015311.2):c.1228T>C (p.Y410H) - INHA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 3 - c.1255C>T r.(?) p.(Arg419Cys) - pathogenic, VUS g.220432804G>A g.219568082G>A OBSL1(NM_001173408.1):c.1255C>T (p.(Arg419Cys)), OBSL1(NM_015311.2):c.1255C>T (p.R419C) - OBSL1_000002 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 2 - c.1273dup r.(?) p.(Thr425Asnfs*40) - pathogenic g.220432786dup g.219568064dup c.1274dup, OBSL1(NM_001173408.1):c.1273dup (p.(Thr425Asnfs*40)) - INHA_000029, OBSL1_000057 2 heterozygous, no homozygous, VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs762334954 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/. 2 - c.1283-18T>A r.(=) p.(=) - benign g.220432709A>T g.219567987A>T OBSL1(NM_015311.3):c.1283-18T>A - OBSL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 3 - c.1303del r.(?) p.(Arg436Glyfs*14) - pathogenic (recessive) g.220432671del g.219567949del NM_015311.2:c.1306delC:p.(Arg436Glyfs*14) - OBSL1_000065 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
?/. 1 - c.1318G>A r.(?) p.(Val440Ile) - VUS g.220432656C>T - OBSL1(NM_015311.2):c.1318G>A (p.V440I) - INHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1734G>A r.(?) p.(Pro578=) - likely benign g.220432098C>T - OBSL1(NM_015311.2):c.1734G>A (p.P578=) - INHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1737C>A r.(?) p.(Gly579=) - likely benign g.220432095G>T g.219567373G>T OBSL1(NM_015311.2):c.1737C>A (p.G579=) - INHA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1738G>A r.(?) p.(Asp580Asn) - VUS g.220432094C>T g.219567372C>T OBSL1(NM_015311.2):c.1738G>A (p.D580N) - INHA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1742G>A r.(?) p.(Cys581Tyr) - VUS g.220432090C>T g.219567368C>T OBSL1(NM_015311.2):c.1742G>A (p.C581Y) - INHA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1818C>T r.(?) p.(Phe606=) - benign g.220432014G>A g.219567292G>A - - OBSL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1820A>G r.(?) p.(His607Arg) - likely benign g.220432012T>C - OBSL1(NM_001173408.1):c.1820A>G (p.(His607Arg)) - INHA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1912G>A r.(?) p.(Asp638Asn) - likely benign g.220431774C>T g.219567052C>T OBSL1(NM_001173408.1):c.1912G>A (p.(Asp638Asn)) - OBSL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1950T>C r.(?) p.(Asn650=) - likely benign g.220431736A>G g.219567014A>G OBSL1(NM_015311.2):c.1950T>C (p.N650=) - OBSL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1976C>T r.(?) p.(Pro659Leu) - VUS g.220431710G>A g.219566988G>A OBSL1(NM_015311.2):c.1976C>T (p.P659L) - OBSL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1999G>A r.(?) p.(Ala667Thr) - likely benign g.220431687C>T g.219566965C>T OBSL1(NM_001173408.1):c.1999G>A (p.(Ala667Thr)) - OBSL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2055C>A r.(?) p.(Ala685=) - benign g.220431631G>T g.219566909G>T - - OBSL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2056G>A r.(?) p.(Val686Ile) - likely benign g.220431630C>T g.219566908C>T OBSL1(NM_015311.2):c.2056G>A (p.V686I) - OBSL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2077G>C r.(?) p.(Ala693Pro) - pathogenic g.220431609C>G g.219566887C>G - - OBSL1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.2104G>A r.(?) p.(Val702Met) - VUS g.220431582C>T g.219566860C>T OBSL1(NM_001173408.1):c.2104G>A (p.(Val702Met)), OBSL1(NM_015311.2):c.2104G>A (p.V702M) - OBSL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 2 - c.2168G>A r.(?) p.(Arg723Lys) - benign g.220430203C>T g.219565481C>T OBSL1(NM_015311.3):c.2168G>A (p.R723K) - OBSL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.2238G>A r.(?) p.(Pro746=) - likely benign g.220430133C>T g.219565411C>T OBSL1(NM_015311.2):c.2238G>A (p.P746=) - OBSL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2392G>A r.(?) p.(Gly798Ser) - likely benign g.220429979C>T g.219565257C>T OBSL1(NM_015311.2):c.2392G>A (p.G798S) - OBSL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2470T>A r.(?) p.(Cys824Ser) - likely benign g.220428287A>T g.219563565A>T OBSL1(NM_001173408.1):c.2470T>A (p.(Cys824Ser)) - OBSL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2608C>G r.(?) p.(Gln870Glu) - VUS g.220428149G>C - OBSL1(NM_001173408.1):c.2608C>G (p.(Gln870Glu)) - OBSL1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2661C>T r.(?) p.(Tyr887=) - likely benign g.220428096G>A - OBSL1(NM_015311.2):c.2661C>T (p.Y887=) - OBSL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2682C>T r.(?) p.(Asp894=) - benign g.220427395G>A g.219562673G>A OBSL1(NM_015311.3):c.2682C>T (p.D894=) - OBSL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 2 - c.2730C>A r.(?) p.(Ala910=) - benign g.220427347G>T g.219562625G>T OBSL1(NM_015311.3):c.2730C>A (p.A910=) - OBSL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2863C>A r.(?) p.(Leu955Met) - VUS g.220427214G>T g.219562492G>T OBSL1(NM_015311.2):c.2863C>A (p.L955M) - OBSL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2887G>A r.(?) p.(Glu963Lys) - likely benign g.220427190C>T g.219562468C>T OBSL1(NM_001173408.1):c.2887G>A (p.(Glu963Lys)) - OBSL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2938A>G r.(?) p.(Thr980Ala) - likely benign g.220427139T>C g.219562417T>C OBSL1(NM_001173408.1):c.2938A>G (p.(Thr980Ala)) - OBSL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.2947G>A r.(?) p.(Val983Ile) - likely benign, VUS g.220427130C>T g.219562408C>T OBSL1(NM_001173408.1):c.2947G>A (p.(Val983Ile)), OBSL1(NM_015311.2):c.2947G>A (p.V983I) - OBSL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2953+457C>T r.(=) p.(=) - likely benign g.220426667G>A - OBSL1(NM_001173408.1):c.3017C>T (p.(Pro1006Leu)) - OBSL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2998_3012del r.(?) p.(Ile1000_Leu1004del) - VUS g.220424170_220424184del g.219559448_219559462del OBSL1(NM_015311.2):c.2998_3012delATCGCCGTGACCTTG (p.I1000_L1004del) - OBSL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.3077G>A r.(?) p.(Gly1026Glu) - VUS g.220424096C>T - OBSL1(NM_001173431.1):c.3077G>A (p.(Gly1026Glu)) - OBSL1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3118G>A r.(?) p.(Asp1040Asn) - VUS g.220424055C>T g.219559333C>T OBSL1(NM_001173408.1):c.*2551G>A (p.(=)) - OBSL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3252G>A r.(?) p.(Pro1084=) - likely benign g.220423156C>T - OBSL1(NM_015311.2):c.3252G>A (p.P1084=) - OBSL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3259C>T r.(?) p.(Arg1087Cys) - likely benign g.220423149G>A g.219558427G>A OBSL1(NM_001173431.1):c.3259C>T (p.(Arg1087Cys)) - OBSL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3283G>A r.(?) p.(Ala1095Thr) - likely benign g.220423125C>T - OBSL1(NM_001173408.1):c.*3481G>A (p.(=)) - OBSL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3304C>T r.(?) p.(Arg1102Cys) - likely benign g.220423104G>A - OBSL1(NM_001173431.1):c.3304C>T (p.(Arg1102Cys)) - OBSL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3352G>A r.(?) p.(Gly1118Arg) - VUS g.220423056C>T - OBSL1(NM_001173408.1):c.*3550G>A (p.(=)) - OBSL1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.3561T>C r.(?) p.(Pro1187=) - benign g.220422774A>G g.219558052A>G OBSL1(NM_015311.3):c.3561T>C (p.P1187=) - OBSL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.3595C>T r.(?) p.(Arg1199Trp) - likely benign g.220422740G>A g.219558018G>A OBSL1(NM_001173408.1):c.*3866C>T (p.(=)) - OBSL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3596G>A r.(?) p.(Arg1199Gln) - VUS g.220422739C>T g.219558017C>T OBSL1(NM_015311.2):c.3596G>A (p.R1199Q) - OBSL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 3 - c.3649G>A r.(?) p.(Glu1217Lys) - benign, likely benign, VUS g.220422686C>T g.219557964C>T OBSL1(NM_001173408.1):c.*3920G>A (p.(=)), OBSL1(NM_015311.3):c.3649G>A (p.E1217K) - OBSL1_000035 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs72957510 CLASSIFICATION record, Germline - 12/2789 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.3682C>T r.(?) p.(Arg1228Ter) - pathogenic g.220422653G>A g.219557931G>A OBSL1(NM_015311.2):c.3682C>T (p.R1228*) - OBSL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3707G>C r.(?) p.(Gly1236Ala) - likely benign g.220422628C>G g.219557906C>G OBSL1(NM_001173431.1):c.3707G>C (p.(Gly1236Ala)) - OBSL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3731C>T r.(?) p.(Thr1244Ile) - likely benign g.220422604G>A g.219557882G>A OBSL1(NM_001173431.1):c.3731C>T (p.(Thr1244Ile)) - OBSL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.3752C>T r.(?) p.(Pro1251Leu) - likely benign, VUS g.220422583G>A g.219557861G>A OBSL1(NM_001173408.1):c.*4023C>T (p.(=)) - OBSL1_000032 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs145485683 CLASSIFICATION record, Germline - 5/2793 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-?/. 1 - c.3850G>A r.(?) p.(Gly1284Ser) - likely benign g.220422281C>T g.219557559C>T OBSL1(NM_001173431.1):c.3850G>A (p.(Gly1284Ser)) - OBSL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3922C>T r.(?) p.(Arg1308*) - VUS g.220422209G>A - OBSL1(NM_001173408.1):c.*4397C>T (p.(=)) - OBSL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.3931_3935del r.(?) p.(Ser1311Glyfs*64) - pathogenic g.220422198_220422202del - OBSL1(NM_015311.2):c.3931_3935delAGCCA (p.S1311Gfs*64) - OBSL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.3993dup r.(?) p.(Arg1332ThrfsTer45) - likely pathogenic g.220422138dup g.219557416dup OBSL1(NM_001173408.1):c.*4468_*4469insA (p.(=)) - OBSL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4005C>A r.(?) p.(Asp1335Glu) - VUS g.220422126G>T g.219557404G>T OBSL1(NM_001173408.1):c.*4480C>A (p.(=)) - OBSL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4024G>A r.(?) p.(Asp1342Asn) - VUS g.220422107C>T g.219557385C>T OBSL1(NM_001173408.1):c.*4499G>A (p.(=)) - OBSL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4060G>A r.(?) p.(Val1354Met) - VUS g.220422071C>T - OBSL1(NM_001173431.1):c.4060G>A (p.(Val1354Met)) - OBSL1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.4067-11G>T r.(=) p.(=) - benign g.220421456C>A g.219556734C>A - - OBSL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.4069C>T r.(?) p.(Pro1357Ser) - likely benign g.220421443G>A g.219556721G>A OBSL1(NM_001173408.1):c.*5163C>T (p.(=)) - OBSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.4095G>C r.(?) p.(Glu1365Asp) - benign g.220421417C>G g.219556695C>G OBSL1(NM_015311.3):c.4095G>C (p.E1365D) - OBSL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.4147G>A r.(?) p.(Val1383Ile) - VUS g.220421365C>T - OBSL1(NM_001173408.1):c.*5241G>A (p.(=)) - OBSL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4192G>A r.(?) p.(Val1398Ile) - likely benign g.220421320C>T g.219556598C>T OBSL1(NM_001173408.1):c.*5286G>A (p.(=)) - OBSL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4220T>C r.(?) p.(Met1407Thr) - likely benign g.220421292A>G - OBSL1(NM_001173408.1):c.*5314T>C (p.(=)) - OBSL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4285G>A r.(?) p.(Val1429Met) - VUS g.220421227C>T g.219556505C>T OBSL1(NM_001173431.1):c.4285G>A (p.(Val1429Met)) - OBSL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.4361G>A r.(?) p.(Arg1454Gln) - benign, likely benign g.220420990C>T g.219556268C>T OBSL1(NM_001173431.1):c.4361G>A (p.(Arg1454Gln)), OBSL1(NM_015311.3):c.4361G>A (p.R1454Q) - OBSL1_000024 2 homozygous; Clinindb (India), 77 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs183329050 CLASSIFICATION record, Germline - 2/2795 individuals, 77/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-/. 2 - c.4395T>C r.(?) p.(Asp1465=) - benign g.220420956A>G g.219556234A>G OBSL1(NM_015311.3):c.4395T>C (p.D1465=) - OBSL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 2 - c.4429G>A r.(?) p.(Ala1477Thr) - likely benign g.220420922C>T g.219556200C>T OBSL1(NM_001173431.1):c.4429G>A (p.(Ala1477Thr)), OBSL1(NM_015311.2):c.4429G>A (p.A1477T) - OBSL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.4454G>A r.(?) p.(Arg1485Gln) - likely benign g.220420897C>T g.219556175C>T OBSL1(NM_001173408.1):c.*5709G>A (p.(=)) - OBSL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4477G>A r.(?) p.(Asp1493Asn) - likely benign g.220420874C>T g.219556152C>T OBSL1(NM_001173431.1):c.4477G>A (p.(Asp1493Asn)) - OBSL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4483C>T r.(?) p.(Arg1495Cys) - VUS g.220420868G>A g.219556146G>A OBSL1(NM_001173408.1):c.*5738C>T (p.(=)) - OBSL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.4566C>T r.(?) p.(Cys1522=) - benign g.220420785G>A g.219556063G>A OBSL1(NM_015311.3):c.4566C>T (p.C1522=) - OBSL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.4628T>C r.(?) p.(Leu1543Pro) - likely benign g.220419444A>G - OBSL1(NM_001173408.1):c.*7162T>C (p.(=)) - CHPF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.4732C>T r.(?) p.(Gln1578*), p.(Gln1578Ter) - likely benign, VUS g.220419340G>A g.219554618G>A OBSL1(NM_001173431.1):c.*1379C>T (p.(=)) - CHPF_000015 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs116131367 CLASSIFICATION record, Germline - 1/2794 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/. 2 - c.4733A>G r.(?) p.(Gln1578Arg) - benign g.220419339T>C g.219554617T>C OBSL1(NM_015311.3):c.4733A>G (p.Q1578R) - CHPF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
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