Full data view for gene BLK

Information The variants shown are described using the NM_001715.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.-1-4920T>C r.(?) p.(=) Unknown ACMG VUS g.11395813T>C g.11538304T>C - - BLK_000059 - - - - De novo - - - - - DNA MS, SEQ-NG-I blood - ADHD 314C - - M - Hong Kong Chinese - - - - 1 Larry Baum
?/. - c.8T>C r.(?) p.(Leu3Pro) Unknown - VUS g.11400741T>C - BLK(NM_001715.3):c.8T>C (p.L3P) - BLK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26C>T r.(?) p.(Pro9Leu) Unknown - likely benign g.11400759C>T - BLK(NM_001715.2):c.26C>T (p.P9L) - BLK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72C>T r.(?) p.(Ser24=) Unknown - likely benign g.11400805C>T - BLK(NM_001715.3):c.72C>T (p.S24=) - BLK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81G>A r.(?) p.(Lys27=) Unknown - likely benign g.11400814G>A - BLK(NM_001715.2):c.81G>A (p.K27=) - BLK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - likely benign g.11400821G>A - BLK(NM_001715.2):c.88G>A (p.A30T) - BLK_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely benign g.11400849C>T g.11543340C>T BLK(NM_001715.2):c.116C>T (p.P39L, p.(Pro39Leu)), BLK(NM_001715.3):c.116C>T (p.P39L) - BLK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - VUS g.11400849C>T g.11543340C>T BLK(NM_001715.2):c.116C>T (p.P39L, p.(Pro39Leu)), BLK(NM_001715.3):c.116C>T (p.P39L) - BLK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely benign g.11400849C>T g.11543340C>T BLK(NM_001715.2):c.116C>T (p.P39L, p.(Pro39Leu)), BLK(NM_001715.3):c.116C>T (p.P39L) - BLK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely benign g.11400849C>T - BLK(NM_001715.2):c.116C>T (p.P39L, p.(Pro39Leu)), BLK(NM_001715.3):c.116C>T (p.P39L) - BLK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>A r.(?) p.(Pro40=) Unknown - likely benign g.11400853C>A - BLK(NM_001715.3):c.120C>A (p.P40=) - BLK_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164A>G r.(?) p.(His55Arg) Unknown - VUS g.11403601A>G g.11546092A>G BLK(NM_001715.2):c.164A>G (p.(His55Arg)) - BLK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176-18C>G r.(=) p.(=) Unknown - likely benign g.11405523C>G - BLK(NM_001715.3):c.176-18C>G - BLK_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177C>G r.(?) p.(Asp59Glu) Unknown - benign g.11405542C>G g.11548033C>G BLK(NM_001330465.1):c.-37C>G (p.(=)), BLK(NM_001715.3):c.177C>G (p.D59E) - BLK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177C>G r.(?) p.(Asp59Glu) Unknown - benign g.11405542C>G - BLK(NM_001330465.1):c.-37C>G (p.(=)), BLK(NM_001715.3):c.177C>G (p.D59E) - BLK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187G>A r.(?) p.(Val63Met) Unknown - likely benign g.11405552G>A - BLK(NM_001715.3):c.187G>A (p.V63M) - BLK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>A r.(?) p.(Ala71Thr) Unknown - benign g.11405576G>A g.11548067G>A BLK(NM_001330465.1):c.-3G>A (p.(=)), BLK(NM_001715.3):c.211G>A (p.A71T) - BLK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>A r.(?) p.(Ala71Thr) Unknown - benign g.11405576G>A g.11548067G>A BLK(NM_001330465.1):c.-3G>A (p.(=)), BLK(NM_001715.3):c.211G>A (p.A71T) - BLK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A r.(?) p.(Ala71Thr) Parent #1 - VUS g.11405576G>A g.11548067G>A - - BLK_000003 conflicting interpretations of pathogenicity; 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55758736 Germline - 24/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
?/. - c.223C>G r.(?) p.(Arg75Gly) Unknown - VUS g.11405588C>G g.11548079C>G BLK(NM_001715.2):c.223C>G (p.R75G), BLK(NM_001715.3):c.223C>G (p.R75G) - BLK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223C>G r.(?) p.(Arg75Gly) Unknown - likely benign g.11405588C>G - BLK(NM_001715.2):c.223C>G (p.R75G), BLK(NM_001715.3):c.223C>G (p.R75G) - BLK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258G>A r.(?) p.(Gln86=) Unknown - benign g.11405623G>A g.11548114G>A BLK(NM_001330465.1):c.45G>A (p.(Gln15=)) - BLK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330T>C r.(?) p.(Ser110=) Unknown - benign g.11406593T>C g.11549084T>C BLK(NM_001715.3):c.330T>C (p.S110=) - BLK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335T>C r.(?) p.(Phe112Ser) Unknown - likely benign g.11406598T>C g.11549089T>C BLK(NM_001330465.1):c.122T>C (p.(Phe41Ser)) - BLK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.344G>A r.(?) p.(Arg115Gln) Unknown - likely benign g.11406607G>A - BLK(NM_001715.3):c.344G>A (p.R115Q) - BLK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368+13G>A r.(=) p.(=) Unknown - likely benign g.11406644G>A - BLK(NM_001715.3):c.368+13G>A - BLK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369-9G>A r.(=) p.(=) Unknown - likely benign g.11407659G>A - BLK(NM_001715.2):c.369-9G>A - BLK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391C>A r.(?) p.(Arg131=) Unknown - benign g.11407690C>A g.11550181C>A BLK(NM_001330465.1):c.178C>A (p.(Arg60=)), BLK(NM_001715.2):c.391C>A (p.R131=), BLK(NM_001715.3):c.391C>A (p.R131=) - BLK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391C>A r.(?) p.(Arg131=) Unknown - benign g.11407690C>A g.11550181C>A BLK(NM_001330465.1):c.178C>A (p.(Arg60=)), BLK(NM_001715.2):c.391C>A (p.R131=), BLK(NM_001715.3):c.391C>A (p.R131=) - BLK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391C>A r.(?) p.(Arg131=) Unknown - benign g.11407690C>A - BLK(NM_001330465.1):c.178C>A (p.(Arg60=)), BLK(NM_001715.2):c.391C>A (p.R131=), BLK(NM_001715.3):c.391C>A (p.R131=) - BLK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - VUS g.11407690C>T g.11550181C>T BLK(NM_001715.2):c.391C>T (p.R131W), BLK(NM_001715.3):c.391C>T (p.R131W) - BLK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - VUS g.11407690C>T - BLK(NM_001715.2):c.391C>T (p.R131W), BLK(NM_001715.3):c.391C>T (p.R131W) - BLK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - VUS g.11407690C>T - BLK(NM_001715.2):c.391C>T (p.R131W), BLK(NM_001715.3):c.391C>T (p.R131W) - BLK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - VUS g.11407690C>T - BLK(NM_001715.2):c.391C>T (p.R131W), BLK(NM_001715.3):c.391C>T (p.R131W) - BLK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424A>G r.(?) p.(Ile142Val) Unknown - likely benign g.11407723A>G - BLK(NM_001715.3):c.424A>G (p.I142V) - BLK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433G>A r.(?) p.(Ala145Thr) Unknown - likely benign g.11407732G>A - BLK(NM_001715.2):c.433G>A (p.A145T) - BLK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(Ala145=) Unknown - likely benign g.11407734C>T - BLK(NM_001715.3):c.435C>T (p.A145=) - BLK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472+12G>A r.(=) p.(=) Unknown - benign g.11407783G>A g.11550274G>A BLK(NM_001330465.1):c.259+12G>A (p.(=)), BLK(NM_001715.3):c.472+12G>A - BLK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472+12G>A r.(=) p.(=) Unknown - likely benign g.11407783G>A - BLK(NM_001330465.1):c.259+12G>A (p.(=)), BLK(NM_001715.3):c.472+12G>A - BLK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472+20C>T r.(=) p.(=) Unknown - likely benign g.11407791C>T - BLK(NM_001330465.1):c.259+20C>T (p.(=)) - BLK_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473-7C>G r.(=) p.(=) Unknown - likely benign g.11412245C>G - BLK(NM_001715.2):c.473-7C>G - BLK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539G>A r.(?) p.(Arg180His) Unknown - VUS g.11412318G>A g.11554809G>A BLK(NM_001715.2):c.539G>A (p.(Arg180His)) - BLK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569C>G r.(?) p.(Ser190Cys) Unknown - VUS g.11412348C>G - BLK(NM_001715.3):c.569C>G (p.S190C) - BLK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674C>T r.(?) p.(Pro225Leu) Unknown - VUS g.11412895C>T g.11555386C>T BLK(NM_001715.2):c.674C>T (p.P225L), BLK(NM_001715.3):c.674C>T (p.P225L) - BLK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674C>T r.(?) p.(Pro225Leu) Unknown - likely benign g.11412895C>T g.11555386C>T BLK(NM_001715.2):c.674C>T (p.P225L), BLK(NM_001715.3):c.674C>T (p.P225L) - BLK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678G>C r.(?) p.(Gln226His) Unknown - likely benign g.11412899G>C - BLK(NM_001715.3):c.678G>C (p.Q226H) - BLK_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>T r.(?) p.(Pro237=) Unknown - likely benign g.11412932C>T g.11555423C>T BLK(NM_001330465.1):c.498C>T (p.(Pro166=)), BLK(NM_001715.2):c.711C>T (p.P237=), BLK(NM_001715.3):c.711C>T (p.P237=) - BLK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>T r.(?) p.(Pro237=) Unknown - likely benign g.11412932C>T g.11555423C>T BLK(NM_001330465.1):c.498C>T (p.(Pro166=)), BLK(NM_001715.2):c.711C>T (p.P237=), BLK(NM_001715.3):c.711C>T (p.P237=) - BLK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>T r.(?) p.(Pro237=) Unknown - likely benign g.11412932C>T g.11555423C>T BLK(NM_001330465.1):c.498C>T (p.(Pro166=)), BLK(NM_001715.2):c.711C>T (p.P237=), BLK(NM_001715.3):c.711C>T (p.P237=) - BLK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713G>A r.(?) p.(Arg238Gln) Unknown - likely benign g.11412934G>A g.11555425G>A BLK(NM_001715.2):c.713G>A (p.R238Q), BLK(NM_001715.3):c.713G>A (p.R238Q) - BLK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713G>A r.(?) p.(Arg238Gln) Parent #1 - VUS g.11412934G>A g.11555425G>A - - BLK_000015 conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141865425 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.713G>A r.(?) p.(Arg238Gln) Unknown - likely benign g.11412934G>A g.11555425G>A BLK(NM_001715.2):c.713G>A (p.R238Q), BLK(NM_001715.3):c.713G>A (p.R238Q) - BLK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713G>A r.(?) p.(Arg238Gln) Unknown - likely benign g.11412934G>A - BLK(NM_001715.2):c.713G>A (p.R238Q), BLK(NM_001715.3):c.713G>A (p.R238Q) - BLK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.772+17G>A r.(=) p.(=) Unknown - likely benign g.11413010G>A g.11555501G>A BLK(NM_001715.3):c.772+17G>A - BLK_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803T>C r.(?) p.(Ile268Thr) Unknown - VUS g.11414197T>C g.11556688T>C - - BLK_000022 The effect ist unknown, but a pathogenic tendency of this variant is assumed. - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - MODY11 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.843T>C r.(?) p.(Phe281=) Unknown - benign g.11414237T>C g.11556728T>C BLK(NM_001715.3):c.843T>C (p.F281=) - BLK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879C>T r.(?) p.(His293=) Unknown - likely benign g.11414273C>T g.11556764C>T BLK(NM_001715.2):c.879C>T (p.H293=), BLK(NM_001715.3):c.879C>T (p.H293=) - BLK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879C>T r.(?) p.(His293=) Unknown - likely benign g.11414273C>T g.11556764C>T BLK(NM_001715.2):c.879C>T (p.H293=), BLK(NM_001715.3):c.879C>T (p.H293=) - BLK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953-20T>C r.(=) p.(=) Unknown - likely benign g.11415451T>C g.11557942T>C BLK(NM_001715.3):c.953-20T>C - BLK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974A>C r.(?) p.(Lys325Thr) Parent #1 - VUS g.11415492A>C g.11557983A>C - - BLK_000037 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77401687 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-?/. - c.974A>C r.(?) p.(Lys325Thr) Unknown - likely benign g.11415492A>C - BLK(NM_001715.2):c.974A>C (p.K325T), BLK(NM_001715.3):c.974A>C (p.K325T) - BLK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.974A>C r.(?) p.(Lys325Thr) Unknown - likely benign g.11415492A>C - BLK(NM_001715.2):c.974A>C (p.K325T), BLK(NM_001715.3):c.974A>C (p.K325T) - BLK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1075C>T r.(?) p.(Arg359Cys) Parent #1 - pathogenic g.11418856C>T g.11561347C>T - - BLK_000038 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146505280 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
-?/. - c.1075C>T r.(?) p.(Arg359Cys) Unknown - likely benign g.11418856C>T - BLK(NM_001715.3):c.1075C>T (p.R359C) - BLK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209C>T r.(?) p.(Ala403=) Unknown - likely benign g.11420516C>T g.11563007C>T BLK(NM_001715.3):c.1209C>T (p.A403=) - BLK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(Val434=) Unknown - likely benign g.11420609G>A g.11563100G>A BLK(NM_001715.2):c.1302G>A (p.V434=), BLK(NM_001715.3):c.1302G>A (p.V434=) - BLK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(Val434=) Unknown - likely benign g.11420609G>A - BLK(NM_001715.2):c.1302G>A (p.V434=), BLK(NM_001715.3):c.1302G>A (p.V434=) - BLK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1349G>A r.(?) p.(Arg450His) Unknown - likely benign g.11421448G>A g.11563939G>A BLK(NM_001715.3):c.1349G>A (p.R450H) - BLK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351G>A r.(?) p.(Gly451Ser) Parent #1 - VUS g.11421450G>A g.11563941G>A - - BLK_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199605698 Germline - 1/2781 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1351G>A r.(?) p.(Gly451Ser) Unknown - likely benign g.11421450G>A - BLK(NM_001715.3):c.1351G>A (p.G451S) - BLK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1367G>T r.(?) p.(Arg456Leu) Unknown - likely benign g.11421466G>T - BLK(NM_001715.2):c.1367G>T (p.R456L) - BLK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*428G>A r.(=) p.(=) Unknown - benign g.11422045G>A g.11564536G>A BLK(NM_001715.3):c.*428G>A - BLK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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