Full data view for gene PAPSS2

Information The variants shown are described using the NM_001015880.1 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 1i c.27+3A>C r.spl? p.? Both (homozygous) - pathogenic g.89419768A>C g.87660011A>C - - PAPSS2_000008 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
-/. - c.27+1024A>G r.(=) p.(=) Unknown - benign g.89420789A>G g.87661032A>G PAPSS2(NM_001015880.2):c.27+1024A>G - PAPSS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28-14G>C r.(=) p.(=) Unknown - likely benign g.89468939G>C - PAPSS2(NM_001015880.1):c.28-14G>C (p.(=)) - PAPSS2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28G>A r.(?) p.(Glu10Lys) Unknown - benign g.89468953G>A g.87709196G>A PAPSS2(NM_001015880.1):c.28G>A (p.(Glu10Lys)) - PAPSS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(?) p.(=) Unknown - likely benign g.89468973C>T - PAPSS2(NM_001015880.1):c.48C>T (p.(Thr16=)) - PAPSS2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60T>C r.(?) p.(=) Unknown - likely benign g.89468985T>C - PAPSS2(NM_001015880.1):c.60T>C (p.(Tyr20=)) - PAPSS2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82A>G r.(?) p.(Asn28Asp) Unknown - VUS g.89469007A>G - PAPSS2(NM_001015880.1):c.82A>G (p.(Asn28Asp)) - PAPSS2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41*) Both (homozygous) ACMG pathogenic g.89469046C>T g.87709289C>T - - PAPSS2_000014 - - - - Germline - - - - - DNA SEQ-NG - - BCYM - - - - - - - - - - - 1 Allan Richards
+?/. - c.121C>T r.(?) p.(Arg41*) Unknown - likely pathogenic g.89469046C>T - PAPSS2(NM_001015880.1):c.121C>T (p.(Arg41Ter)) - PAPSS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41*) Unknown - pathogenic g.89469046C>T - PAPSS2(NM_001015880.1):c.121C>T (p.(Arg41Ter)) - PAPSS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.128G>A r.(?) p.(Cys43Tyr) Both (homozygous) - pathogenic g.89469053G>A g.87709296G>A - - PAPSS2_000007 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
+/. - c.143C>G r.(?) p.(Thr48Arg) Unknown - pathogenic g.89469068C>G - PAPSS2(NM_001015880.2):c.143C>G (p.T48R) - PAPSS2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+17T>C r.(=) p.(=) Unknown - likely benign g.89469087T>C - PAPSS2(NM_001015880.1):c.145+17T>C (p.(=)) - PAPSS2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145+29_145+32del r.(=) p.(=) Unknown - benign g.89469099_89469102del g.87709342_87709345del PAPSS2(NM_001015880.1):c.145+14_145+17del (p.(=)) - PAPSS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+31_145+32del r.(=) p.(=) Unknown - likely benign g.89469101_89469102del g.87709344_87709345del PAPSS2(NM_001015880.1):c.145+31_145+32del (p.(=)) - PAPSS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+31_145+32dup r.(=) p.(=) Unknown - likely benign g.89469101_89469102dup - PAPSS2(NM_001015880.1):c.145+31_145+32dup (p.(=)) - PAPSS2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193T>C r.(?) p.(Tyr65His) Unknown - VUS g.89472879T>C - PAPSS2(NM_001015880.1):c.193T>C (p.(Tyr65His)) - PAPSS2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194A>G r.(?) p.(Tyr65Cys) Unknown - VUS g.89472880A>G - PAPSS2(NM_001015880.2):c.194A>G (p.(Tyr65Cys)) - PAPSS2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>A r.(?) p.(Val67=) Unknown - likely benign g.89472887C>A - PAPSS2(NM_001015880.1):c.201C>A (p.(=)) - PAPSS2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202T>C r.(?) p.(Ser68Pro) Unknown - likely benign g.89472888T>C g.87713131T>C PAPSS2(NM_001015880.1):c.202T>C (p.(Ser68Pro)) - PAPSS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.227T>A r.(?) p.(Leu76Gln) Paternal (inferred) - pathogenic g.89472913T>A g.87713156T>A - - PAPSS2_000001 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
?/. - c.265C>G r.(?) p.(Leu89Val) Unknown - VUS g.89472951C>G - PAPSS2(NM_001015880.1):c.265C>G (p.(Leu89Val)) - PAPSS2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>T r.(?) p.(Leu89=) Unknown - likely benign g.89472953C>T g.87713196C>T PAPSS2(NM_001015880.1):c.267C>T (p.(Leu89=)) - PAPSS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269G>A r.(?) p.(Gly90Glu) Unknown - VUS g.89472955G>A g.87713198G>A PAPSS2(NM_001015880.1):c.269G>A (p.(Gly90Glu)) - PAPSS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276T>C r.(?) p.(Ser92=) Unknown - likely benign g.89472962T>C - PAPSS2(NM_001015880.1):c.276T>C (p.(Ser92=)) - PAPSS2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>T r.(?) p.(Arg101Cys) Unknown - VUS g.89472987C>T - PAPSS2(NM_001015880.2):c.301C>T (p.(Arg101Cys)) - PAPSS2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.337dup r.(?) p.(Ala113Glyfs*18) Both (homozygous) - pathogenic g.89473023dup g.87713266dup - - PAPSS2_000004 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
+/? 3 c.372del r.(?) p.(Phe125Serfs*24) Both (homozygous) - pathogenic g.89473058del g.87713301del - - PAPSS2_000009 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
-?/. - c.375C>T r.(?) p.(Phe125=) Unknown - likely benign g.89473061C>T g.87713304C>T PAPSS2(NM_001015880.1):c.375C>T (p.F125=, p.(Phe125=)) - PAPSS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375C>T r.(?) p.(Phe125=) Unknown - benign g.89473061C>T - PAPSS2(NM_001015880.1):c.375C>T (p.F125=, p.(Phe125=)) - PAPSS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Ala126Thr) Unknown - likely benign g.89473062G>A - PAPSS2(NM_001015880.1):c.376G>A (p.(Ala126Thr)) - PAPSS2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.377C>A r.(?) p.(Ala126Glu) Unknown - likely benign g.89473063C>A g.87713306C>A PAPSS2(NM_001015880.1):c.377C>A (p.(Ala126Glu)) - PAPSS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.381G>C r.(?) p.(Lys127Asn) Paternal (confirmed) - pathogenic g.89473067G>C g.87713310G>C - - PAPSS2_000011 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.381_381+2del r.spl? p.? Unknown - likely benign g.89473067_89473069del g.87713310_87713312del PAPSS2(NM_001015880.1):c.381_381+2del (p.?) - PAPSS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.381+1G>A r.spl? p.? Unknown - likely pathogenic g.89473068G>A g.87713311G>A PAPSS2(NM_001015880.1):c.381+1G>A (p.?) - PAPSS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+1G>T r.spl? p.? Unknown - likely benign g.89473068G>T - PAPSS2(NM_001015880.1):c.381+1G>T (p.?) - PAPSS2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+1_381+2del r.spl? p.? Unknown - likely benign g.89473068_89473069del - PAPSS2(NM_001015880.1):c.381+1_381+2del (p.?) - PAPSS2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+1_381+2insGAA r.spl? p.? Unknown - VUS g.89473068_89473069insGAA - PAPSS2(NM_001015880.1):c.381+1_381+2insGAA (p.?) - PAPSS2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+1_381+2insGAAA r.spl? p.? Unknown - VUS g.89473068_89473069insGAAA - PAPSS2(NM_001015880.1):c.381+1_381+2insGAAA (p.?) - PAPSS2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+2del r.spl? p.? Unknown - VUS g.89473069del - PAPSS2(NM_001015880.1):c.381+2del (p.?) - PAPSS2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+2T>A r.spl? p.? Unknown - VUS g.89473069T>A - PAPSS2(NM_001015880.1):c.381+2T>A (p.?) - PAPSS2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+2T>G r.spl? p.? Unknown - VUS g.89473069T>G - PAPSS2(NM_001015880.1):c.381+2T>G (p.?) - PAPSS2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+2_381+3del r.spl? p.? Unknown - VUS g.89473069_89473070del - PAPSS2(NM_001015880.1):c.381+2_381+3del (p.?) - PAPSS2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+3A>T r.spl? p.? Unknown - likely benign g.89473070A>T - PAPSS2(NM_001015880.1):c.381+3A>T (p.?) - PAPSS2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+3_381+24dup r.spl? p.? Unknown - likely benign g.89473070_89473091dup g.87713313_87713334dup PAPSS2(NM_001015880.1):c.381+2_381+3insAAAAAAAAAAAAAAAAAAAAAA (p.?) - PAPSS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+7A>G r.(=) p.(=) Unknown - likely benign g.89473074A>G - PAPSS2(NM_001015880.1):c.381+7A>G (p.(=)) - PAPSS2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+10_381+24dup r.(=) p.(=) Unknown - likely benign g.89473077_89473091dup g.87713320_87713334dup PAPSS2(NM_001015880.1):c.381+10_381+24dup (p.(=)) - PAPSS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+11_381+24dup r.(=) p.(=) Unknown - likely benign g.89473078_89473091dup - PAPSS2(NM_001015880.1):c.381+11_381+24dup (p.(=)) - PAPSS2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381+12_381+24dup r.(=) p.(=) Unknown - VUS g.89473079_89473091dup - PAPSS2(NM_001015880.1):c.381+12_381+24dup (p.(=)) - PAPSS2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+13_381+24dup r.(=) p.(=) Unknown - likely benign g.89473080_89473091dup g.87713323_87713334dup PAPSS2(NM_001015880.1):c.381+2_381+3insAAAAAAAAAAAA (p.?) - PAPSS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+14_381+24dup r.(=) p.(=) Unknown - likely benign g.89473081_89473091dup g.87713324_87713334dup PAPSS2(NM_001015880.1):c.381+14_381+24dup (p.(=)) - PAPSS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381+15_381+24dup r.(=) p.(=) Unknown - benign g.89473082_89473091dup - PAPSS2(NM_001015880.1):c.381+15_381+24dup (p.(=)) - PAPSS2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+16_381+24dup r.(=) p.(=) Unknown - likely benign g.89473083_89473091dup - PAPSS2(NM_001015880.1):c.381+17_381+25dupAAAAAAAAA - PAPSS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+18_381+24dup r.(=) p.(=) Unknown - likely benign g.89473085_89473091dup - PAPSS2(NM_001015880.1):c.381+18_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+18_381+24dupAAAAAAA - PAPSS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+18_381+24dup r.(=) p.(=) Unknown - likely benign g.89473085_89473091dup - PAPSS2(NM_001015880.1):c.381+18_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+18_381+24dupAAAAAAA - PAPSS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+19_381+24dup r.(=) p.(=) Unknown - likely benign g.89473086_89473091dup g.87713329_87713334dup PAPSS2(NM_001015880.1):c.381+19_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+19_381+24dupAAAAAA - PAPSS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+19_381+24dup r.(=) p.(=) Unknown - likely benign g.89473086_89473091dup - PAPSS2(NM_001015880.1):c.381+19_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+19_381+24dupAAAAAA - PAPSS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+20_381+24del r.(=) p.(=) Unknown - likely benign g.89473087_89473091del - PAPSS2(NM_001015880.1):c.381+20_381+24del (p.(=)) - PAPSS2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+20_381+24dup r.(=) p.(=) Unknown - likely benign g.89473087_89473091dup g.87713330_87713334dup PAPSS2(NM_001015880.1):c.381+20_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+20_381+24dupAAAAA - PAPSS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+20_381+24dup r.(=) p.(=) Unknown - likely benign g.89473087_89473091dup - PAPSS2(NM_001015880.1):c.381+20_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+20_381+24dupAAAAA - PAPSS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381+21_381+24del r.(=) p.(=) Unknown - benign g.89473088_89473091del - PAPSS2(NM_001015880.1):c.381+21_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+21_381+24delAAAA - PAPSS2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+21_381+24del r.(=) p.(=) Unknown - likely benign g.89473088_89473091del - PAPSS2(NM_001015880.1):c.381+21_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+21_381+24delAAAA - PAPSS2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+21_381+24dup r.(=) p.(=) Unknown - likely benign g.89473088_89473091dup g.87713331_87713334dup PAPSS2(NM_001015880.1):c.381+21_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+22_381+25dupAAAA - PAPSS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+21_381+24dup r.(=) p.(=) Unknown - likely benign g.89473088_89473091dup - PAPSS2(NM_001015880.1):c.381+21_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+22_381+25dupAAAA - PAPSS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+22_381+24del r.(=) p.(=) Unknown - likely benign g.89473089_89473091del g.87713332_87713334del PAPSS2(NM_001015880.1):c.381+22_381+24del (p.(=)), PAPSS2(NM_001015880.2):c.381+22_381+24delAAA - PAPSS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381+22_381+24del r.(=) p.(=) Unknown - benign g.89473089_89473091del - PAPSS2(NM_001015880.1):c.381+22_381+24del (p.(=)), PAPSS2(NM_001015880.2):c.381+22_381+24delAAA - PAPSS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+22_381+24dup r.(=) p.(=) Unknown - likely benign g.89473089_89473091dup g.87713332_87713334dup PAPSS2(NM_001015880.1):c.381+22_381+24dup (p.?), PAPSS2(NM_001015880.1):c.381+23_381+25dupAAA - PAPSS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381+22_381+24dup r.(=) p.(=) Unknown - benign g.89473089_89473091dup - PAPSS2(NM_001015880.1):c.381+22_381+24dup (p.?), PAPSS2(NM_001015880.1):c.381+23_381+25dupAAA - PAPSS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+23_381+24del r.(=) p.(=) Unknown - likely benign g.89473090_89473091del g.87713333_87713334del PAPSS2(NM_001015880.1):c.381+23_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+23_381+24delAA - PAPSS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+23_381+24del r.(=) p.(=) Unknown - likely benign g.89473090_89473091del - PAPSS2(NM_001015880.1):c.381+23_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+23_381+24delAA - PAPSS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+23_381+24dup r.(=) p.(=) Unknown - likely benign g.89473090_89473091dup g.87713333_87713334dup PAPSS2(NM_001015880.1):c.381+23_381+24dup (p.(=)) - PAPSS2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381+23_381+24insGAAAAAAAAAAAA r.(=) p.(=) Unknown - benign g.89473090_89473091insGAAAAAAAAAAAA - PAPSS2(NM_001015880.1):c.381+11_381+12insAAAAAAAAAAAAG (p.(=)) - PAPSS2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+24del r.(=) p.(=) Unknown - likely benign g.89473091del g.87713334del PAPSS2(NM_001015880.1):c.381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+24delA - PAPSS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+24del r.(=) p.(=) Unknown - likely benign g.89473091del - PAPSS2(NM_001015880.1):c.381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+24delA - PAPSS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+24dup r.(=) p.(=) Unknown - likely benign g.89473091dup g.87713334dup PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA - PAPSS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+24dup r.(=) p.(=) Unknown - likely benign g.89473091dup - PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA - PAPSS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381+24dup r.(=) p.(=) Unknown - likely benign g.89473091dup - PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA - PAPSS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>C r.(?) p.(Arg129Pro) Unknown ACMG VUS g.89473805G>C g.87714048G>C - - PAPSS2_000015 - - - - Germline - - - - - DNA SEQ-NG - - BCYM - - - - - - - - - - - 1 Allan Richards
?/. - c.397C>T r.(?) p.(Arg133Cys) Unknown - VUS g.89473816C>T - PAPSS2(NM_001015880.1):c.397C>T (p.(Arg133Cys)) - PAPSS2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398G>A r.(?) p.(Arg133His) Unknown - VUS g.89473817G>A - PAPSS2(NM_001015880.1):c.398G>A (p.(Arg133His)) - PAPSS2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>T r.(?) p.(Asp159=) Unknown - likely benign g.89473896C>T g.87714139C>T PAPSS2(NM_001015880.1):c.477C>T (p.(Asp159=)) - PAPSS2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4i c.520+2T>A r.spl? p.(Arg129Leufs*25) Maternal (confirmed) - pathogenic g.89473941T>A g.87714184T>A - - PAPSS2_000002 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
+/? 4i c.520+2T>A r.spl? p.(Arg129Leufs*25) Both (homozygous) - pathogenic g.89473941T>A g.87714184T>A - - PAPSS2_000002 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
+/? 4i c.520+2T>A r.spl? p.(Arg129Leufs*25) Both (homozygous) - pathogenic g.89473941T>A g.87714184T>A - - PAPSS2_000002 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
-?/. - c.520+7G>A r.(=) p.(=) Unknown - likely benign g.89473946G>A - PAPSS2(NM_001015880.1):c.520+7G>A (p.(=)) - PAPSS2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520+10T>C r.(=) p.(=) Unknown - likely benign g.89473949T>C g.87714192T>C PAPSS2(NM_001015880.1):c.520+10T>C (p.(=)) - PAPSS2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554C>T r.(?) p.(Pro185Leu) Unknown - VUS g.89474535C>T g.87714778C>T PAPSS2(NM_001015880.1):c.554C>T (p.P185L) - PAPSS2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.569G>T r.(?) p.(Arg190Leu) Unknown - likely benign g.89474550G>T g.87714793G>T PAPSS2(NM_001015880.1):c.569G>T (p.R190L) - PAPSS2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604T>C r.(?) p.(Cys202Arg) Unknown - VUS g.89474585T>C - PAPSS2(NM_004670.3):c.604T>C (p.(Cys202Arg)) - PAPSS2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(His204=) Unknown - likely benign g.89474593C>T - PAPSS2(NM_001015880.1):c.612C>T (p.(His204=)) - PAPSS2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.629_630dup r.(?) p.(Gln211Cysfs*11) Both (homozygous) - pathogenic g.89474610_89474611dup g.87714853_87714854dup - - PAPSS2_000006 - - - - Germline - - - - - DNA SEQ - - BCYM - - - - - - - - - - - 1 Shiro Ikegawa
-?/. - c.675C>T r.(?) p.(His225=) Unknown - likely benign g.89474777C>T g.87715020C>T PAPSS2(NM_001015880.1):c.675C>T (p.(=)) - PAPSS2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676G>A r.(?) p.(Glu226Lys) Unknown - VUS g.89474778G>A - PAPSS2(NM_001015880.1):c.676G>A (p.(Glu226Lys)) - PAPSS2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690G>A r.(?) p.(Pro230=) Unknown - likely benign g.89474792G>A - PAPSS2(NM_001015880.1):c.690G>A (p.(=)) - PAPSS2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705C>T r.(?) p.(Asp235=) Unknown - likely benign g.89474807C>T g.87715050C>T PAPSS2(NM_001015880.1):c.705C>T (p.(=)) - PAPSS2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709G>A r.(?) p.(Val237Ile) Unknown - likely benign g.89474811G>A - PAPSS2(NM_001015880.1):c.709G>A (p.(Val237Ile)) - PAPSS2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712C>T r.(?) p.(Arg238*) Both (homozygous) - pathogenic (recessive) g.89474814C>T - - - PAPSS2_000065 - - - - Germline - - - - - DNA SEQ-NG Peripheral blood - SEMD - - 2-generation family, 2 affected (the proband and her sister) and unaffected heterozygous carrier parents. F no China Chinese - - - - 2 Xiuli Zhao
+/. 6 c.712C>T r.(?) p.(Arg238*) Both (homozygous) ACMG pathogenic (recessive) g.89474814C>T - - - PAPSS2_000065 ACMG: PVS1, PM3, PM2_SUP PMID: 35261200 VCV000932326.11 - Germline - - - - - DNA SEQ-NG-I - - BCYM4 209586 - - M yes Pakistan - - - - - 1 Andreas Laner
-?/. - c.753+4A>C r.spl? p.? Unknown - likely benign g.89474859A>C - PAPSS2(NM_001015880.1):c.753+4A>C (p.?) - PAPSS2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753+14G>A r.(=) p.(=) Unknown - likely benign g.89474869G>A - PAPSS2(NM_001015880.1):c.753+14G>A (p.(=)) - PAPSS2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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