Full data view for gene RBM8A

Information The variants shown are described using the NM_005105.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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ID_report     

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+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 13 - 2-generation family, 1 affected F no - - >5y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 15 (mother of 13) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 16 - 2-generation family, 1 affected F no - - >15y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 17 (father of 16) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 19 - patient ? no - - >23y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 20 - patient ? no - - >23y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 21 - patient ? no - - >26y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 22 - patient ? no - - >27y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 23 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 40 - 2-generation family, 2 affecteds ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 41 - 2-generation family, 2 affecteds ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 38 (parent 1 of 40 and 41) - 2-generation family, parent 2 patients ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 42 - 2-generation family, 1 affected F no - - >17y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 43 (mother of 42) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 47 - 2-generation family, 1 affected M no - - >4m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 48 (mother of 47) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 50 - 2-generation family, 1 affected M no - - >26y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 51 (mother of 50) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 53 - 2-generation family, 1 affected F no - - >1y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 55 (father of 53) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 de novo in patient (maternal allele) PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 56 - 2-generation family, 1 affected F no - - >34y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 de novo in patient (maternal allele) PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 59 - 2-generation family, 1 affected M no - - >26y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 64 - patient M no - - >23y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 65 - 2-generation family, 1 affected F no - - >34y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 66 (mother of 65) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 68 - 2-generation family, 1 affected M no - - >1y6m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 69 (mother of 68) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 70 - 2-generation family, 2 affecteds F no - - >18y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 71 - 2-generation family, 2 affecteds F no - - >6m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 72 (mother of 70 and 71) - 2-generation family, mother 2 patients F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 74 - 2-generation family, 1 affected M no - - >39y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 75 (mother of 74) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 76 - 2-generation family, 1 affected M no - - >2y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 77 (mother of 76) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 allele not maternal PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 83 - 2-generation family, 1 affected F no - - >37y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 85 - 2-generation family, 1 affected F no - - >17d - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 88 - patient F no - - >4y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 89 - patient M no - - >8y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 de novo in patient, maternal allele PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 92 - 2-generation family, 1 affected M no - - >1y6m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 95 - 2-generation family, 1 affected M no - - >6y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 96 (mother of 95) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 98 - patient F no - - >4y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 101 - 2-generation family, 1 affected F no - - >17y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 102 (mother of 101) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 113 - patient ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 114 - 2-generation family, 1 affected ? no - - >8y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 116 - 2-generation family, 1 affected F no - - >8y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 118 (mother of 116) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 121 - 2-generation family, 1 affected F no - - >36y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 145 (mother of 121) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 122 - patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 123 - patient ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 124 - patient F no - - >22y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 125 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 126 (father of 125) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 128 - 2-generation family, 1 affected F no - - >8y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 134 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 132 (mother of 134) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 allele not paternal PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 136 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - TAR 139 - 2-generation family, 1 affected F no - - >17y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 142 - 2-generation family, 1 affected M no - - >16y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 144 (father of 142) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; de novo on maternal allele PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 1 - 2-generation family, 1 affected M no - - >31y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; de novo on maternal allele PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 2 - 2-generation family, 1 affected F no - - >6m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 3 - 2-generation family, 1 affected F no - - >14y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 103 (mother of 3) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 4 - 2-generation family, 1 affected F no - - >14y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 108 (father of 4) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 5 - 2-generation family, 1 affected F no - - >29y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 112 (father of 5) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 6 - 2-generation family, 1 affected F no - - >28y6m - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 82 (father of 6) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 7 - 2-generation family, 1 affected F no - - >22y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 91 (father of 7) - 2-generation family, father patient M no - - - - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 8 - 2-generation family, 1 affected F no - - >2d - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 10 - 2-generation family, 1 affected M no - - >28y - - - 1 LOVD
+/. 1_6 c.-110_*4325[0] r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_145507557)_(145513536_?)del - 1q21 deletion, heterozygous - RBM8A_000001 not in 5919 controls; normal 2nd chromosome PubMed: Albers 2012 - - Unknown - - - - - DNA PCR, SEQ - - Healthy/Control 11 (father of 10) - 2-generation family, father patient M no - - - - - - 1 LOVD
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