Full data view for gene SOS1

Information The variants shown are described using the NM_005633.3 transcript reference sequence.

286 entries on 3 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.? r.(?) p.? Parent #1 - pathogenic g.? - - - SOS1_000042 - PubMed: Barroso 2003 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
?/. - c.64C>G r.(?) p.Leu22Val Unknown ACMG VUS g.39347500G>C g.39120359G>C - - SOS1_000156 - - - rs773916713 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
-?/. - c.87+10A>G r.(=) p.(=) Unknown - likely benign g.39347467T>C g.39120326T>C SOS1(NM_005633.3):c.87+10A>G - SOS1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109A>G r.(?) p.(Thr37Ala) Unknown - likely benign g.39294873T>C g.39067732T>C SOS1(NM_005633.3):c.109A>G (p.T37A) - SOS1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.109A>G r.(?) p.(Thr37Ala) Unknown - pathogenic g.39294873T>C g.39067732T>C - - SOS1_000034 aa change predicted to be benign by PolyPhen; aa change predicted to be tolerated by SIFT; variant at a conserved residue/ Original exon: 3 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
-?/. - c.109A>G r.(?) p.(Thr37Ala) Unknown - likely benign g.39294873T>C g.39067732T>C SOS1(NM_005633.3):c.109A>G (p.T37A) - SOS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137A>T r.(?) p.(Gln46Leu) Unknown - VUS g.39294845T>A g.39067704T>A - - SOS1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169A>T r.(?) p.(Asn57Tyr) Unknown - VUS g.39294813T>A g.39067672T>A - - SOS1_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195A>C r.(?) p.(Arg65=) Unknown - benign g.39294787T>G g.39067646T>G SOS1(NM_005633.3):c.195A>C (p.R65=) - SOS1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.195A>C r.(?) p.(Arg65=) Unknown - benign g.39294787T>G g.39067646T>G SOS1(NM_005633.3):c.195A>C (p.R65=) - SOS1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213+14_213+16del r.(=) p.(=) Unknown - likely benign g.39294756_39294758del g.39067615_39067617del SOS1(NM_005633.3):c.213+14_213+16delTGT - SOS1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.233T>G r.(?) p.(Phe78Cys) Unknown - benign g.39285926A>C g.39058785A>C SOS1(NM_005633.3):c.233T>G (p.F78C) - SOS1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.233T>G r.(?) p.(Phe78Cys) Maternal (confirmed) - VUS g.39285926A>C g.39058785A>C - - SOS1_000051 possible polymorphism PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - unaffected carrier mother - - - - - 0 - - 2 LOVD
?/. - c.236C>G r.(?) p.(Pro79Arg) Unknown - VUS g.39285923G>C - SOS1(NM_005633.3):c.236C>G (p.(Pro79Arg)) - SOS1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.283G>A r.(?) p.(Glu95Lys) Unknown - likely benign g.39285876C>T g.39058735C>T - - SOS1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.305C>G r.(?) p.(Pro102Arg) Parent #1 - pathogenic g.39285854G>C g.39058713G>C - - SOS1_000057 - PubMed: Denayer 2010 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+?/. - c.305C>G r.(?) p.(Pro102Arg) Unknown - likely pathogenic g.39285854G>C g.39058713G>C - - SOS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.322G>A r.(?) p.(Glu108Lys) Unknown - pathogenic g.39285837C>T g.39058696C>T - - SOS1_000001 Original exon: 4 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 2, fam unknown - - - - - 0 - - 2 LOVD
+/? 3 c.322G>A r.(?) p.(Glu108Lys) Parent #1 - pathogenic g.39285837C>T g.39058696C>T - - SOS1_000001 not in 310 control chromosomes PubMed: Tartaglia 2007 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 3 c.322G>A r.(?) p.(Glu108Lys) Parent #1 - pathogenic g.39285837C>T g.39058696C>T - - SOS1_000001 not in 310 control chromosomes PubMed: Tartaglia 2007 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+?/. - c.322G>A r.(?) p.(Glu108Lys) Unknown - likely pathogenic g.39285837C>T g.39058696C>T - - SOS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323A>G r.(?) p.(Glu108Gly) Unknown - likely pathogenic g.39285836T>C g.39058695T>C SOS1(NM_005633.3):c.323A>G (p.E108G) - SOS1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.335C>G r.(?) p.(Pro112Arg) Unknown - pathogenic g.39285824G>C g.39058683G>C - - SOS1_000026 unavailable parent DNA samples; aa change predicted to be possibly damaging by PolyPhen; aa change predicted to tolerated by SIFT/ Original exon: 4 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic - - - - - 0 - - 1 LOVD
-?/. - c.345+7C>T r.(=) p.(=) Unknown - likely benign g.39285807G>A g.39058666G>A - - SOS1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.345+12_345+13dup r.(=) p.(=) Unknown - likely benign g.39285801_39285802dup - SOS1(NM_005633.3):c.345+12_345+13dupCT - SOS1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+15C>T r.(=) p.(=) Unknown - benign g.39285799G>A g.39058658G>A SOS1(NM_005633.3):c.345+15C>T - SOS1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.345+15C>T r.(=) p.(=) Unknown - benign g.39285799G>A - SOS1(NM_005633.3):c.345+15C>T - SOS1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.508A>G r.(?) p.(Lys170Glu) Unknown - pathogenic g.39283845T>C g.39056704T>C - - SOS1_000002 Original exon: 5 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic; 2, fam unknown - - - - - 0 - - 3 LOVD
+/? 4 c.508A>G r.(?) p.(Lys170Glu) Parent #1 - pathogenic g.39283845T>C g.39056704T>C - - SOS1_000002 - PubMed: Ko 2008 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+?/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - likely pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508A>G r.(?) p.(Lys170Glu) Unknown - pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511-18A>G r.(=) p.(=) Unknown - likely benign g.39281982T>C g.39054841T>C - - SOS1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.512T>G r.(?) p.(Val171Gly) Unknown - likely pathogenic g.39281963A>C g.39054822A>C SOS1(NM_005633.3):c.512T>G (p.V171G) - SOS1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551A>G r.(?) p.(Asn184Ser) Unknown - likely benign g.39281924T>C - SOS1(NM_005633.3):c.551A>G (p.N184S) - SOS1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570C>T r.(?) p.(Asp190=) Unknown - likely benign g.39281905G>A g.39054764G>A SOS1(NM_005633.3):c.570C>T (p.D190=) - SOS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.570C>T r.(?) p.(Asp190=) Unknown - benign g.39281905G>A g.39054764G>A SOS1(NM_005633.3):c.570C>T (p.D190=) - SOS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570C>T r.(?) p.(Asp190=) Unknown - likely benign g.39281905G>A g.39054764G>A SOS1(NM_005633.3):c.570C>T (p.D190=) - SOS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571G>A r.(?) p.(Glu191Lys) Unknown - VUS g.39281904C>T g.39054763C>T SOS1(NM_005633.3):c.571G>A (p.E191K) - SOS1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571G>A r.(?) p.(Glu191Lys) Unknown - VUS g.39281904C>T - SOS1(NM_005633.3):c.571G>A (p.E191K) - SOS1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698A>G r.(?) p.(Asn233Ser) Unknown - likely benign g.39281777T>C - SOS1(NM_005633.3):c.698A>G (p.N233S) - SOS1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749T>C r.(?) p.(Val250Ala) Unknown - benign g.39278400A>G - SOS1(NM_005633.3):c.749T>C (p.(Val250Ala)) - SOS1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.755T>C r.(?) p.(Ile252Thr) Unknown - pathogenic g.39278394A>G g.39051253A>G - - SOS1_000027 variant not occurring in over 300 population-matched unaffected subjects; aa change predicted to be probably damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 7 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, familial - - - - - 0 - - 1 LOVD
+?/? 6 c.755T>C r.(?) p.(Ile252Thr) Maternal (confirmed) - likely pathogenic g.39278394A>G g.39051253A>G - - SOS1_000027 the consequences of the variant are functional Moncini et al., submitted to European Journal of Human Genetics - - Germline - - - 0 - DNA SEQ - - NS1 - - - F no Italy - - 0 - - 1 Paola Riva
?/. - c.755T>C r.(?) p.(Ile252Thr) Unknown - VUS g.39278394A>G - SOS1(NM_005633.3):c.755T>C (p.I252T) - SOS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797C>A r.(?) p.(Thr266Lys) Unknown - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.797C>A r.(?) p.(Thr266Lys) Unknown - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000003 Original exon: 7 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic; 3, fam unknown - - - - - 0 - - 4 LOVD
+/? 6 c.797C>A r.(?) p.(Thr266Lys) Parent #1 - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000003 - PubMed: Roberts 2007, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - NS - - - F - - - - 0 - - 1 LOVD
+/? 6 c.797C>A r.(?) p.(Thr266Lys) Parent #1 - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000003 - PubMed: Ferrero 2008, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/. - c.797C>A r.(?) p.(Thr266Lys) Parent #1 - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852812 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.798A>C r.(?) p.(Thr266=) Unknown - likely benign g.39278351T>G g.39051210T>G - - SOS1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.800_811del r.(?) p.(Val267_Thr270del) Unknown - VUS g.39278342_39278353del - - - SOS1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.806T>C r.(?) p.(Met269Thr) Unknown - pathogenic g.39278343A>G g.39051202A>G - - SOS1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.806T>C r.(?) p.(Met269Thr) Unknown - pathogenic g.39278343A>G g.39051202A>G - - SOS1_000004 Original exon: 7 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 3, sporadic; 2, fam unknown - - - - - 0 - - 5 LOVD
+/? 6 c.806T>C r.(?) p.(Met269Thr) Parent #1 - pathogenic g.39278343A>G g.39051202A>G - - SOS1_000004 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/. - c.806T>G r.(?) p.(Met269Arg) Unknown - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.806T>G r.(?) p.(Met269Arg) Unknown - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 Original exon: 7 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 not in 310 control chromosomes PubMed: Tartaglia 2007, OMIM:var0003 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Roberts 2007, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Roberts 2007, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 1 LOVD
+/? 6 c.806T>G r.(?) p.(Met269Arg) Parent #1 - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
-?/. - c.821G>T r.(?) p.(Ser274Ile) Unknown - likely benign g.39278328C>A g.39051187C>A SOS1(NM_005633.3):c.821G>T (p.(Ser274Ile)) - SOS1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.925G>T r.(?) p.(Asp309Tyr) Parent #1 - pathogenic g.39262581C>A g.39035440C>A - - SOS1_000048 - PubMed: Roberts 2007 - - Unknown - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 1 LOVD
+/? 7 c.925G>T r.(?) p.(Asp309Tyr) Parent #1 - pathogenic g.39262581C>A g.39035440C>A - - SOS1_000048 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
-?/. - c.929G>A r.(?) p.(Arg310His) Unknown - likely benign g.39262577C>T - SOS1(NM_005633.3):c.929G>A (p.R310H) - SOS1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.985G>A r.(?) p.(Glu329Lys) Unknown - VUS g.39262442C>T g.39035301C>T - - SOS1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007A>G r.(?) p.(Gln336Arg) Unknown - VUS g.39262420T>C - SOS1(NM_005633.3):c.1007A>G (p.Q336R) - SOS1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1010A>G r.(?) p.(Tyr337Cys) Parent #1 - pathogenic g.39262417T>C g.39035276T>C - - SOS1_000049 - PubMed: Roberts 2007 - - Germline - - - 0 - DNA SEQ - - NS - - - M - - - - 0 - - 2 LOVD
-?/. - c.1018C>T r.(?) p.(Pro340Ser) Unknown - likely benign g.39262409G>A g.39035268G>A - - SOS1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018C>T r.(?) p.(Pro340Ser) Parent #1 - benign g.39262409G>A g.39035268G>A - - SOS1_000179 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs190222208 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.1055A>G r.(?) p.(His352Arg) Unknown - likely benign g.39262372T>C g.39035231T>C - - SOS1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1066C>A r.(?) p.(Leu356Ile) Paternal (confirmed) - likely benign g.39262361G>T g.39035220G>T - - SOS1_000061 - PubMed: Abela 2016 - - Germline no - - 0 - DNA SEQ-NG-I blood WES EE 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - 2 Anaïs Begemann
-?/. - c.1074+5G>C r.spl? p.? Unknown - likely benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1074+5G>C r.spl? p.? Unknown - benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074+5G>C r.spl? p.? Unknown - likely benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074+5G>C r.spl? p.? Unknown - likely benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1074+5G>C r.spl? p.? Unknown - benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132A>G r.(?) p.(Thr378Ala) Parent #1 - likely pathogenic g.39251221T>C g.39024080T>C - - SOS1_000183 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397517146 Germline - 2/2740 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.1203-20T>C r.(=) p.(=) Unknown - benign g.39250386A>G g.39023245A>G SOS1(NM_005633.3):c.1203-20T>C - SOS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1203-20T>C r.(=) p.(=) Unknown - likely benign g.39250386A>G g.39023245A>G SOS1(NM_005633.3):c.1203-20T>C - SOS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1203-20T>C r.(=) p.(=) Unknown - benign g.39250386A>G g.39023245A>G SOS1(NM_005633.3):c.1203-20T>C - SOS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1230G>A r.(?) p.(Gln410=) Unknown - likely benign g.39250339C>T g.39023198C>T SOS1(NM_005633.3):c.1230G>A (p.Q410=) - SOS1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1230G>A r.(=) p.(=) Parent #1 - benign g.39250339C>T g.39023198C>T - - SOS1_000120 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141390073 Germline - 15/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
+/+? 10 c.1264A>G r.(?) p.(Met422Val) Unknown - pathogenic g.39250305T>C g.39023164T>C - - SOS1_000028 aa change predicted to be probably damaging by PolyPhen; aa change predicted to tolerated by SIFT; variant at a conserved residue/ Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
+/+? 10 c.1270G>A r.(?) p.(Glu424Lys) Unknown - pathogenic g.39250299C>T g.39023158C>T - - SOS1_000029 aa change predicted to be possibly damaging by PolyPhen; aa change predicted to affect protein function by SIFT; variant at a conserved residue/ Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
?/. - c.1277A>C r.(?) p.(Gln426Pro) Unknown - VUS g.39250292T>G g.39023151T>G - - SOS1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1281_1289del r.(?) p.(Lys427_Asp430delinsAsn) Unknown - pathogenic g.39250281_39250289del g.39023140_39023148del c.1281_1289delGAATATTGA - SOS1_000006 Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, fam unknown - - - - - 0 - - 1 LOVD
?/. - c.1285A>G r.(?) p.(Ile429Val) Unknown - VUS g.39250284T>C g.39023143T>C - - SOS1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1294T>A r.(?) p.(Trp432Arg) Unknown - likely pathogenic g.39250275A>T g.39023134A>T - - SOS1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1294T>C r.(?) p.(Trp432Arg) Unknown - pathogenic g.39250275A>G g.39023134A>G - - SOS1_000007 Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic; 1, fam unknown - - - - - 0 - - 2 LOVD
+/? 10 c.1294T>C r.(?) p.(Trp432Arg) Parent #1 - pathogenic g.39250275A>G g.39023134A>G - - SOS1_000007 not in 310 control chromosomes PubMed: Tartaglia 2007 - - Germline - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 2 LOVD
+/? 10 c.1294T>C r.(?) p.(Trp432Arg) Parent #1 - pathogenic g.39250275A>G g.39023134A>G - - SOS1_000007 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 10 c.1294T>C r.(?) p.(Trp432Arg) Parent #1 - pathogenic g.39250275A>G g.39023134A>G - - SOS1_000007 - PubMed: Hanna 2009 - - Germline - - - 0 - DNA SEQ - - NS - - 2 brothers M - - - - 0 - - 2 LOVD
+/. - c.1294T>C r.(?) p.(Trp432Arg) Unknown - pathogenic g.39250275A>G g.39023134A>G SOS1(NM_005633.3):c.1294T>C (p.W432R) - SOS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1294_1299del r.(?) p.(Trp432_Glu433del) Unknown - pathogenic g.39250270_39250275del g.39023129_39023134del c.1294_1299delTGGGAG - SOS1_000008 variant not occurring in over 300 population-matched unaffected subjects; unavailable parent DNA samples/ Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 1, sporadic - - - - - 0 - - 1 LOVD
+/. - c.1297G>A r.(?) p.(Glu433Lys) Unknown - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1297G>A r.(?) p.(Glu433Lys) Unknown - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000009 Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - 0 - DNA SEQ - - NS - - # of cases: 3, sporadic; 3, fam unknown - - - - - 0 - - 6 LOVD
+/? 10 c.1297G>A r.(?) p.(Glu433Lys) Parent #1 - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000009 not in 310 control chromosomes PubMed: Tartaglia 2007 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 10 c.1297G>A r.(?) p.(Glu433Lys) Parent #1 - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000009 not in 310 control chromosomes PubMed: Tartaglia 2007 - - Unknown - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
+/? 10 c.1297G>A r.(?) p.(Glu433Lys) Parent #1 - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000009 - PubMed: Zenker 2007 - - De novo - - - 0 - DNA SEQ - - NS - - - - - - - - 0 - - 1 LOVD
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