Unique variants in the SERPINF1 gene


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_002615.5 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 2 - c.-86C>A r.(=) p.(=) - likely benign g.1665330C>A g.1762036C>A - - SERPINF1_000085 1 homozygous; Clinindb (India), 85 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9913583 Germline - 1/2795 individuals, 85/2795 individuals - - - Mohammed Faruq
+/+ 1 1i c.-9+2dup r.spl p.? - pathogenic g.1665409dup - - - SERPINF1_000011 1 more item PubMed: Shaheen 2012 - - Germline - - - - - Raymond Dalgleish
-/. 1 - c.-9+17G>A r.(=) p.(=) - benign g.1665424G>A g.1762130G>A SERPINF1(NM_002615.7):c.-9+17G>A - SERPINF1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 2 c.1A>G r.(?) p.(Met1?) - pathogenic g.1670205A>G - - - SERPINF1_000048 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
-?/. 1 - c.15G>T r.(?) p.(=) - likely benign g.1670219G>T - SERPINF1(NM_002615.7):c.15G>T (p.V5=) - SERPINF1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/-? 1 2 c.18A>G r.(?) (p.Leu6=) - likely benign g.1670222A>G - - - SERPINF1_000069 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
-?/-? 1 2 c.21C>A r.(?) (p.Leu7=) - likely benign g.1670225C>A - - - SERPINF1_000070 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 1 2 c.72dup r.(?) p.(Glu27Glyfs*38) - pathogenic g.1670276dup - c.72dupC - SERPINF1_000015 - PubMed: Cho 2013 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.77C>G r.(?) p.(Pro26Arg) - likely benign g.1670281C>G - SERPINF1(NM_002615.5):c.77C>G (p.(Pro26Arg)) - SERPINF1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 2 c.77dup r.(?) p.(Glu27Glyfs*38) - pathogenic g.1670281dup - c.77dupC - SERPINF1_000051 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+?/. 1 - c.80dup r.(?) p.(Glu28GlyfsTer37) - likely pathogenic g.1670284dup g.1766990dup 80dupA - SERPINF1_000111 ACMG PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.84+15G>A r.(=) p.(=) - likely benign g.1670303G>A - SERPINF1(NM_002615.7):c.84+15G>A - SERPINF1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/-? 1 2i c.84+40G>A r.(?) p.(=) - likely benign g.1670328G>A - - - SERPINF1_000066 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
-/. 1 - c.85-14C>T r.(=) p.(=) - benign g.1673132C>T g.1769838C>T SERPINF1(NM_002615.7):c.85-14C>T - SERPINF1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.151G>A r.(?) p.(Val51Met) - benign, likely benign g.1673212G>A g.1769918G>A SERPINF1(NM_001329903.1):c.151G>A (p.(Val51Met)), SERPINF1(NM_002615.7):c.151G>A (p.V51M) - SERPINF1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/+, -/-, -?/., ?/. 4 3 c.167C>G r.(?) p.(Ala56Gly) - benign, likely benign, pathogenic, VUS g.1673228C>G - SERPINF1(NM_001329903.1):c.167C>G (p.(Ala56Gly)), SERPINF1(NM_002615.6):c.167C>G (p.A56G) - SERPINF1_000023 VKGL data sharing initiative Nederland PubMed: Ji 2019, PubMed: Ziff 2016 - rs76119062 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+, +/. 2 3 c.184G>A r.(?) p.(Gly62Ser) - pathogenic, pathogenic (recessive) g.1673245G>A g.1769951G>A - - SERPINF1_000033 - PubMed: Liu 2017, PubMed: Wang 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
+/. 1 - c.188dup r.(?) p.(Tyr63Ter) - pathogenic g.1673249dup g.1769955dup 188dupA - SERPINF1_000112 ACMG BS1, BS2, BP4 PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.202G>C r.(?) p.(Val68Leu) - likely benign g.1673263G>C g.1769969G>C SERPINF1(NM_002615.5):c.202G>C (p.(Val68Leu)), SERPINF1(NM_002615.7):c.202G>C (p.V68L) - SERPINF1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/., -?/? 3 3 c.215C>T r.(?) p.(Thr72Met), p.Thr72Met - benign, likely benign g.1673276C>T g.1769982C>T SERPINF1(NM_002615.7):c.215C>T (p.T72M) - SERPINF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Ahmed Khairy Saad
-?/., ?/? 2 3 c.242C>G r.(?) p.(Ser81Cys) - likely benign, VUS g.1673303C>G - SERPINF1(NM_002615.6):c.242C>G (p.S81C) - SERPINF1_000029 VKGL data sharing initiative Nederland PubMed: Essawi 2018 - rs140512665 CLASSIFICATION record, Germline - - - - - Sofie Symoens, VKGL-NL_Rotterdam
+/+ 1 3 c.248_249del r.(?) p.(Leu83Glnfs*28) - pathogenic g.1673309_1673310del - - - SERPINF1_000049 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+?/? 1 3 c.250dup r.(?) p.(Ser84Lysfs*28) - likely pathogenic g.1673311dup - c.250dupA - SERPINF1_000059 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/+, +/. 3 3 c.261_265dup r.(?) p.(Leu89Argfs*26) - pathogenic, pathogenic (recessive) g.1673322_1673326dup g.1770028_1770032dup 259_260insCGGCC - SERPINF1_000046, SERPINF1_000098 - PubMed: Li 2019, Journal: Li 2019, PubMed: Zhalsanova 2023 - - Germline - - - - - Xiuli Zhao, Kim Worring
+/. 1 - c.263_267dup r.(?) p.(Ser90ProfsTer25) - pathogenic g.1673324_1673328dup g.1770030_1770034dup SERPINF1(NM_002615.7):c.263_267dupCCCTC (p.S90Pfs*25) - SERPINF1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +/. 11 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic, pathogenic (recessive) g.1673332_1673340dup g.1770038_1770046dup 271_279dupGCCCTCTCG - SERPINF1_000007 1 more item PubMed: Caparros-Martin 2016, PubMed: Li 2019, Journal: Li 2019, PubMed: Liu 2017, PubMed: Rauch 2012, 2 more items - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish, Xiuli Zhao
+/+ 1 3_3i c.273_283+1del r.spl p.? - pathogenic g.1673334_1673345del - - - SERPINF1_000035 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+?/? 1 3 c.277_278dup r.(?) p.(Leu94Argfs*20) - likely pathogenic g.1673338_1673339dup - - - SERPINF1_000057 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/. 1 - c.278C>A r.(?) p.(Ser93*) ACMG likely pathogenic (recessive) g.1673339C>A - - - SERPINF1_000093 ACMG PVS1, PM2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 ClinVar-SCV001976359 - Germline - - - - - Thanakorn Theerapanon
+/+, +/. 2 3i c.283+1G>T r.spl p.? - pathogenic, pathogenic (recessive) g.1673345G>T g.1770051G>T - - SERPINF1_000030 - PubMed: Liu 2017, PubMed: Wang 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
+/+ 1 3i_5i c.283+485_643+116del r.spl p.(Ala96_Gly215del) - pathogenic g.1673829_1675485del - - - SERPINF1_000045 1 more item PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 4 4 c.295C>T r.(?) p.(Arg99*) - pathogenic g.1674334C>T - - - SERPINF1_000004 1 more item PubMed: Homan 2011, PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4 c.324_325dup r.(?) p.(Tyr109Serfs*5) - pathogenic g.1674363_1674364dup - - - SERPINF1_000002 - PubMed: Becker 2011 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4 c.331G>A r.(?) p.(Asp111Asn) - pathogenic g.1674370G>A - - - SERPINF1_000024 - PubMed: Ziff 2016 - - Germline - - - - - Raymond Dalgleish
?/. 1 - c.336G>T r.(?) p.(Leu112Phe) - VUS g.1674375G>T - SERPINF1(NM_002615.7):c.336G>T (p.(Leu112Phe)) - SERPINF1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.384G>A r.(?) p.(Thr128=) - likely benign g.1674423G>A - SERPINF1(NM_002615.7):c.384G>A (p.T128=) - SERPINF1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., ?/? 2 4 c.390T>C r.(?) p.(Thr130=), p.Thr130= - benign, VUS g.1674429T>C g.1771135T>C SERPINF1(NM_002615.7):c.390T>C (p.T130=) - SERPINF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Ahmed Khairy Saad
+/-, -?/. 3 4 c.392C>A r.(?) p.(Ala131Asp) - likely benign, pathogenic g.1674431C>A g.1771137C>A SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D) - SERPINF1_000025 VKGL data sharing initiative Nederland PubMed: Ziff 2016 - rs148005190 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.395C>G r.(?) p.(Pro132Arg) - benign g.1674434C>G g.1771140C>G SERPINF1(NM_002615.7):c.395C>G (p.P132R) - SERPINF1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +/. 3 4 c.397C>T r.(?) p.(Gln133*) - pathogenic g.1674436C>T g.1771142C>T - - SERPINF1_000034 - PubMed: Li 2019, Journal: Li 2019, PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish, Muhammad Umair, Xiuli Zhao
+/+ 1 4 c.421dup r.(?) p.(Arg141Profs*5) - pathogenic g.1674460dup - c.421dupC - SERPINF1_000016 - PubMed: Cho 2013 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4 c.423del r.(?) p.(Ile142Serfs*9) - pathogenic g.1674462del - c.423delG - SERPINF1_000006 - PubMed: Venturi 2011 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.439+7C>T r.(=) p.(=) - likely benign g.1674485C>T - SERPINF1(NM_002615.7):c.439+7C>T - SERPINF1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 4i c.439+34C>T r.spl p.? - pathogenic g.1674512C>T - - - SERPINF1_000052 - PubMed: Jin 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4i c.439+127_643+545del r.spl p.Lys147_Gly215delinsArg - pathogenic g.1674605_1675914del - - - SERPINF1_000009 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.440-338G>A r.(=) p.(=) - likely benign g.1674828G>A - SERPINF1(NM_002615.7):c.440-338G>A - SERPINF1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.440-338G>C r.(=) p.(=) - likely benign g.1674828G>C - SERPINF1(NM_002615.7):c.440-338G>C - SERPINF1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 4i c.440-40_440-38del r.spl p.? - pathogenic g.1675126_1675128del - c.440-40_440-38delTCG - SERPINF1_000026 1 more item PubMed: Ziff 2016 - - Germline - - - - - Raymond Dalgleish
-/?, ?/? 2 4i c.440-39C>T r.(?) p.(=) - benign, VUS g.1675127C>T - - - SERPINF1_000039 - - - - Germline - - - - - Ahmed Khairy Saad
?/- 1 4i c.440-28C>T r.(?) p.(=) - VUS g.1675138C>T - - - SERPINF1_000041 - - - - Germline - - - - - Ahmed Khairy Saad
+/+ 1 5 c.(439+1_440-1)_(643+1_644-1)del r.(?) p.(Lys147_Gly215delinsArg) - pathogenic g.(1674479_1675165)_(1675370_1678351)del g.(1771185_1771871)_(1772076_1775057)del c.440-?_643+?del - SERPINF1_000017 - PubMed: Rauch 2014 - - Germline - - - - - Raymond Dalgleish
+/+ 2 5 c.441G>C r.(?) p.(Lys147Asn) - pathogenic g.1675167G>C - - - SERPINF1_000027 1 more item PubMed: Ziff 2016 - rs138341386 Germline - - - - - Raymond Dalgleish
?/. 1 - c.446G>A r.(?) p.(Arg149His) - VUS g.1675172G>A g.1771878G>A SERPINF1(NM_002615.5):c.446G>A (p.(Arg149His)) - SERPINF1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/. 2 5 c.498_499del r.(?) p.(Arg167Serfs*35) - pathogenic, pathogenic (recessive) g.1675224_1675225del g.1771930_1771931del 498_499delCA - SERPINF1_000031 - PubMed: Liu 2017, PubMed: Wang 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
+/+ 1 5 c.532C>T r.(?) p.(Gln178*) - pathogenic g.1675258C>T - - - SERPINF1_000021 - PubMed: Stephen 2015 - - Germline - - - - - Raymond Dalgleish
+/+ 1 5 c.540dup r.(?) p.(Asn181Glnfs*22) - pathogenic g.1675266dup - c.540dupC - SERPINF1_000018 1 more item PubMed: Al-Jallad 2014 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.577G>A r.(?) p.(Ala193Thr) - likely benign g.1675303G>A - SERPINF1(NM_002615.7):c.577G>A (p.A193T) - SERPINF1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 5 c.601G>A r.(?) p.(Asp201Asn) - pathogenic g.1675327G>A - - - SERPINF1_000028 - PubMed: Ziff 2016 - rs137997656 Germline - - - - - Raymond Dalgleish
+/+, ?/. 2 5 c.620T>G r.(?) p.(Leu207Arg), p.(Leu20Arg) - pathogenic, VUS g.1675346T>G g.1772052T>G - - SERPINF1_000053 ACMG PVS1, PM2, PP3 PubMed: Mohd Nawawi 2018, PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen, Raymond Dalgleish
+?/. 1 - c.621_623del r.(?) p.(Leu208del) - likely pathogenic g.1675347_1675349del g.1772053_1772055del - - SERPINF1_000113 ACMG PM2, PP3, PM6 PubMed: Tuysuz 2022 VCV000684741.1 - Germline - - - - - Johan den Dunnen
-?/. 1 - c.643+6C>T r.(=) p.(=) - likely benign g.1675375C>T - SERPINF1(NM_002615.7):c.643+6C>T - SERPINF1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.643+8C>T r.(=) p.(=) - benign g.1675377C>T g.1772083C>T SERPINF1(NM_002615.7):c.643+8C>T - SERPINF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.643+9G>A r.(=) p.(=) - benign g.1675378G>A g.1772084G>A SERPINF1(NM_002615.7):c.643+9G>A - SERPINF1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/-? 3 5i c.643+82T>C r.spl p.? - likely pathogenic g.1675451T>C - - - SERPINF1_000067 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
-/. 1 - c.644-14A>T r.(=) p.(=) - benign g.1678338A>T g.1775044A>T SERPINF1(NM_002615.7):c.644-14A>T - SERPINF1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 6 c.648_651del r.(?) p.(Trp217*) - pathogenic g.1678356_1678359del - - - SERPINF1_000056 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/+, +/?, ?/? 5 6 c.651G>A r.(?) p.(Trp217*) - pathogenic, VUS g.1678359G>A - - - SERPINF1_000014 - PubMed: Caparrós-Martin 2013 - - Germline - - - - - Victor L Ruiz-Perez, Ahmed Khairy Saad
+/+, +/. 3 6 c.653del r.(?) p.(Val218Glufs*22) - pathogenic, pathogenic (recessive) g.1678361del g.1775067del NM_002615.5:c.653delT:p.(Val218Glufs*22) - SERPINF1_000012 - PubMed: Maddirevula 2018, PubMed: Shaheen 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 1 6 c.696C>G r.(?) p.(Tyr232*) - pathogenic g.1678404C>G - - - SERPINF1_000001 - PubMed: Becker 2011 - - Germline - - - - - Raymond Dalgleish
?/. 1 - c.730_732del r.(?) p.(Met244del) - VUS g.1678438_1678440del g.1775144_1775146del 730_732delATG - SERPINF1_000114 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
+/+ 1 6 c.752_753ins[KC847088.1:g.51_393] r.? p.? - pathogenic g.1678460_1678461delins[KC847088.1:g.51_393] g.1775166_1775167ins[KC847088.1:g.51_393] c.752_c.753insKC847088.1:g.51_393 - SERPINF1_000013 - PubMed: Caparrós-Martin 2013 - - Germline - - - - - Victor L Ruiz-Perez
?/. 1 - c.754C>T r.(?) p.(Arg252Cys) - VUS g.1678462C>T - SERPINF1(NM_002615.7):c.754C>T (p.(Arg252Cys)) - SERPINF1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.759T>C r.(?) p.(=) - likely benign g.1678467T>C - SERPINF1(NM_002615.7):c.759T>C (p.Y253=) - SERPINF1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.767A>C r.(?) p.(Asp256Ala) - VUS g.1678475A>C - SERPINF1(NM_002615.5):c.767A>C (p.(Asp256Ala)) - SERPINF1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 6i c.787-617G>A r.spl p.? - pathogenic g.1679209G>A - - - SERPINF1_000036 1 more item PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.787-102A>C r.(=) p.(=) - likely benign g.1679724A>C - SERPINF1(NM_002615.7):c.787-102A>C - SERPINF1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 2 6i c.787-10C>G r.spl p.Lys262Ile263insLeuSerGln - pathogenic g.1679816C>G - - - SERPINF1_000022 - PubMed: Ward 2016 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.787-6T>C r.(=) p.(=) - likely benign g.1679820T>C - SERPINF1(NM_002615.7):c.787-6T>C - SERPINF1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 7 c.808G>T r.(?) p.(Gly270*) - pathogenic g.1679847G>T - - - SERPINF1_000019 1 more item PubMed: Al-Jallad 2014 - - Germline - - - - - Raymond Dalgleish
?/. 1 - c.826T>A r.(?) p.(Phe276Ile) - VUS g.1679865T>A g.1776571T>A SERPINF1(NM_002615.6):c.826T>A (p.F276I) - SERPINF1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/+? 3 7 c.829_831del r.(?) p.(Phe277del) - pathogenic g.1679868_1679870del - - - SERPINF1_000008 - PubMed: Li 2019, Journal: Li 2019, PubMed: Rauch 2012, PubMed: Stephen 2015 - - Germline - - - - - Raymond Dalgleish, Xiuli Zhao
+/., +/? 2 7 c.838_839del r.(?) p.(Leu280Glufs*20) ACMG pathogenic g.1679877_1679878del g.1776583_1776584del 838_839delCT - SERPINF1_000058 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish, Anju Shukla
+/+ 1 7 c.879del r.(?) p.(Thr294Profs*8) - pathogenic g.1679918del - c.879delC - SERPINF1_000047 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
?/. 2 - c.902T>C r.(?) p.(Ile301Thr) - VUS g.1679941T>C - SERPINF1(NM_002615.5):c.902T>C (p.(Ile301Thr)), SERPINF1(NM_002615.6):c.902T>C (p.I301T) - SERPINF1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 7 c.907C>T r.(?) p.(Arg303*) - pathogenic g.1679946C>T - - - SERPINF1_000050 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
-/., ?/- 2 7 c.963T>C r.(?) p.(=), p.(Tyr321=) - benign, VUS g.1680002T>C g.1776708T>C SERPINF1(NM_002615.7):c.963T>C (p.Y321=) - SERPINF1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Ahmed Khairy Saad
-?/. 2 - c.969C>T r.(?) p.(=) - likely benign g.1680008C>T - SERPINF1(NM_002615.7):c.969C>T (p.(Gly323=), p.G323=) - SERPINF1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.998-15_998-12del r.(=) p.(=) - likely benign g.1680466_1680469del - SERPINF1(NM_002615.7):c.998-15_998-12delTCTC - SERPINF1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1050C>T r.(?) p.(=) - likely benign g.1680533C>T - SERPINF1(NM_002615.7):c.1050C>T (p.P350=) - SERPINF1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 8 c.1067T>A r.(?) p.(Val356Glu) - pathogenic g.1680550T>A - - - SERPINF1_000054 - PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish
+?/. 1 - c.1075del r.(?) p.(Arg359Glyfs*40) ACMG likely pathogenic (recessive) g.1680558del g.1777264del - - SERPINF1_000086 ACMG: Class 4 (PVS1_STR, PM2, PM3_SUP) - - - Germline ? - - - - Andreas Laner
-?/. 1 - c.1076G>A r.(?) p.(Arg359Gln) - likely benign g.1680559G>A - SERPINF1(NM_002615.5):c.1076G>A (p.(Arg359Gln)) - SERPINF1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 8 c.1076T>A r.(?) p.(Val356Glu) - pathogenic g.1680559T>A - - - SERPINF1_000044 - PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.1079C>T r.(?) p.(Ala360Val) - likely benign g.1680562C>T - SERPINF1(NM_002615.5):c.1079C>T (p.(Ala360Val)) - SERPINF1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1088A>C r.(?) p.(Glu363Ala) - VUS g.1680571A>C - SERPINF1(NM_002615.5):c.1088A>C (p.(Glu363Ala)) - SERPINF1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 2 8 c.1091G>A r.(?) p.(Trp364*) - pathogenic g.1680574G>A - - - SERPINF1_000037 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 1 8 c.1118_1119del r.(?) p.(Pro373Glnfs*18) - pathogenic g.1680601_1680602del - - - SERPINF1_000010 - PubMed: Shaheen 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 1 8 c.1132C>T r.(?) p.(Gln378*) - pathogenic g.1680615C>T - - - SERPINF1_000003 - PubMed: Becker 2011 - - Germline - - - - - Raymond Dalgleish
+/+, +/. 3 8 c.1152_1170del r.(?) p.(Phe384Leufs*9) - pathogenic, pathogenic (recessive) g.1680635_1680653del g.1777341_1777359del Phe384Leufs*9 - SERPINF1_000020 The protein-level variant description is incorrectly reported as p.384_390del. PubMed: Fernandes 2020, PubMed: Minillo 2014 - - Germline - - - - - Raymond Dalgleish, Kim Worring
+/+ 1 8 c.1163_1166dup r.(?) p.(His389Glnfs*4) - pathogenic g.1680646_1680649dup - - - SERPINF1_000005 The published mutation is incorrectly described as ENSG00000132386:g.10440_10443dupATCA PubMed: Homan 2011 - - Germline - - - - - Raymond Dalgleish
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