All variants in the SERPINF1 gene


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

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

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     
-?/. - c.-86C>A r.(=) p.(=) - likely benign g.1665330C>A g.1762036C>A - - SERPINF1_000085 85 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9913583 Germline - 85/2795 individuals - - - Mohammed Faruq
-?/. - c.-86C>A r.(=) p.(=) - likely benign g.1665330C>A g.1762036C>A - - SERPINF1_000085 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9913583 Germline - 1/2795 individuals - - - Mohammed Faruq
+/+ 1i c.-9+2dup r.spl p.? - pathogenic g.1665409dup - - - SERPINF1_000011 The variant in this patient is incorrectly described as c.1-4796dupT in {PMID23054245:Shaheen et al., 2012}. PubMed: Shaheen 2012 - - Germline - - - - - Raymond Dalgleish
-/. - 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
+/+ 2 c.1A>G r.(?) p.(Met1?) - pathogenic g.1670205A>G - - - SERPINF1_000048 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
-?/. - 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
-?/-? 2 c.18A>G r.(?) (p.Leu6=) - likely benign g.1670222A>G - - - SERPINF1_000069 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
-?/-? 2 c.21C>A r.(?) (p.Leu7=) - likely benign g.1670225C>A - - - SERPINF1_000070 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 2 c.72dup r.(?) p.(Glu27Glyfs*38) - pathogenic g.1670276dup - c.72dupC - SERPINF1_000015 - PubMed: Cho 2013 - - Germline - - - - - Raymond Dalgleish
-?/. - 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
+/+ 2 c.77dup r.(?) p.(Glu27Glyfs*38) - pathogenic g.1670281dup - c.77dupC - SERPINF1_000051 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+?/. - c.80dup r.(?) p.(Glu28GlyfsTer37) - likely pathogenic g.1670284dup g.1766990dup 80dupA - SERPINF1_000111 ACMG PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
-?/. - 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
-?/-? 2i c.84+40G>A r.(?) p.(=) - likely benign g.1670328G>A - - - SERPINF1_000066 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
-/. - 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
-?/. - c.151G>A r.(?) p.(Val51Met) - 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_VUmc
-/. - c.151G>A r.(?) p.(Val51Met) - benign g.1673212G>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
-?/. - c.167C>G r.(?) p.(Ala56Gly) - likely benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 c.167C>G r.(?) p.(Ala56Gly) - pathogenic g.1673228C>G - - - SERPINF1_000023 - PubMed: Ziff 2016 - rs76119062 Germline - - - - - Raymond Dalgleish
-/- 3 c.167C>G r.(?) p.(Ala56Gly) - benign g.1673228C>G - - - SERPINF1_000023 - PubMed: Ji 2019 - rs76119062 Germline - - - - - Raymond Dalgleish
?/. - c.167C>G r.(?) p.(Ala56Gly) - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.184G>A r.(?) p.(Gly62Ser) - pathogenic (recessive) g.1673245G>A g.1769951G>A - - SERPINF1_000033 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/+ 3 c.184G>A r.(?) p.(Gly62Ser) - pathogenic g.1673245G>A - - - SERPINF1_000033 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/. - c.188dup r.(?) p.(Tyr63Ter) - pathogenic g.1673249dup g.1769955dup 188dupA - SERPINF1_000112 ACMG BS1, BS2, BP4 PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
-?/. - 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
-?/. - 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_VUmc
-/. - c.215C>T r.(?) p.(Thr72Met) - 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 - - - - - VKGL-NL_Groningen
-/. - c.215C>T r.(?) p.(Thr72Met) - 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 - - - - - VKGL-NL_VUmc
-?/? 3 c.215C>T r.(?) p.Thr72Met - likely benign g.1673276C>T - - - SERPINF1_000040 - - - - Germline - - - - - Ahmed Khairy Saad
-?/. - c.242C>G r.(?) p.(Ser81Cys) - likely benign g.1673303C>G - SERPINF1(NM_002615.6):c.242C>G (p.S81C) - SERPINF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 3 c.242C>G r.(?) p.(Ser81Cys) - VUS g.1673303C>G - - - SERPINF1_000029 - PubMed: Essawi 2018 - rs140512665 Germline - - - - - Sofie Symoens
+/+ 3 c.248_249del r.(?) p.(Leu83Glnfs*28) - pathogenic g.1673309_1673310del - - - SERPINF1_000049 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+?/? 3 c.250dup r.(?) p.(Ser84Lysfs*28) - likely pathogenic g.1673311dup - c.250dupA - SERPINF1_000059 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.261_265dup r.(?) p.(Leu89Argfs*26) - pathogenic g.1673322_1673326dup - - - SERPINF1_000046 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+ 3 c.261_265dup r.(?) p.(Leu89Argfs*26) - pathogenic g.1673322_1673326dup - - - SERPINF1_000046 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/. - c.261_265dup r.(?) p.(Leu89Argfs*26) - pathogenic (recessive) g.1673322_1673326dup g.1770028_1770032dup 259_260insCGGCC - SERPINF1_000098 - PubMed: Zhalsanova 2023 - - Germline - - - - - Kim Worring
+/. - 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
+/. 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic (recessive) g.1673332_1673340dup g.1770038_1770046dup 271_279dupGCCCTCTCG - SERPINF1_000007 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/. 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic (recessive) g.1673332_1673340dup g.1770038_1770046dup 271_279dupGCCCTCTCG - SERPINF1_000007 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 homozygous for a missense variant (c.613G>A) in the CTNS gene which results in cystinosis in addition to OI. PubMed: Tucker 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 3 c.271_279dup r.(?) p.(Ala91_Ser93dup) - pathogenic g.1673332_1673340dup - - - SERPINF1_000007 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+ 3_3i c.273_283+1del r.spl p.? - pathogenic g.1673334_1673345del - - - SERPINF1_000035 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+?/? 3 c.277_278dup r.(?) p.(Leu94Argfs*20) - likely pathogenic g.1673338_1673339dup - - - SERPINF1_000057 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/. - 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
+/. 3i c.283+1G>T r.spl p.? - pathogenic (recessive) g.1673345G>T g.1770051G>T - - SERPINF1_000030 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/+ 3i c.283+1G>T r.spl p.? - pathogenic g.1673345G>T - - - SERPINF1_000030 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 3i_5i c.283+485_643+116del r.spl p.(Ala96_Gly215del) - pathogenic g.1673829_1675485del - - - SERPINF1_000045 The variant in this proband is incorrectly described by the authors as c.283+473_643+104del.; The proband is homozygous for the variant because of uniparental disomy for the paternal allele. The mother does not harbour the variant. PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.295C>T r.(?) p.(Arg99*) - pathogenic g.1674334C>T - - - SERPINF1_000004 The published mutation is incorrectly described as ENSG00000132386:g.4130C>T. This patient was previously described as Patient 1 in {PMID11771667:Glorieux et al., 2002} and subsequently as Patient 1 in {PMID22669302:Rauch et al., 2012}. The patients brother (IV-4) is Patient 2 in these two publications. The distantly related affected relative V-1 is Patient 10 in the latter publication. PubMed: Homan 2011 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.295C>T r.(?) p.(Arg99*) - pathogenic g.1674334C>T - - - SERPINF1_000004 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.295C>T r.(?) p.(Arg99*) - pathogenic g.1674334C>T - - - SERPINF1_000004 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.295C>T r.(?) p.(Arg99*) - pathogenic g.1674334C>T - - - SERPINF1_000004 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.324_325dup r.(?) p.(Tyr109Serfs*5) - pathogenic g.1674363_1674364dup - - - SERPINF1_000002 - PubMed: Becker 2011 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.331G>A r.(?) p.(Asp111Asn) - pathogenic g.1674370G>A - - - SERPINF1_000024 - PubMed: Ziff 2016 - - Germline - - - - - Raymond Dalgleish
?/. - 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
-?/. - 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
-/. - c.390T>C r.(?) p.(Thr130=) - benign g.1674429T>C g.1771135T>C SERPINF1(NM_002615.7):c.390T>C (p.T130=) - SERPINF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/? 4 c.390T>C r.(?) p.Thr130= - VUS g.1674429T>C - - - SERPINF1_000043 - - - - Germline - - - - - Ahmed Khairy Saad
-?/. - c.392C>A r.(?) p.(Ala131Asp) - likely benign g.1674431C>A g.1771137C>A SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D) - SERPINF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/- 4 c.392C>A r.(?) p.(Ala131Asp) - pathogenic g.1674431C>A - - - SERPINF1_000025 - PubMed: Ziff 2016 - rs148005190 Germline - - - - - Raymond Dalgleish
-?/. - c.392C>A r.(?) p.(Ala131Asp) - likely benign g.1674431C>A - SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D) - SERPINF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - 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
+/. - c.397C>T r.(?) p.(Gln133*) - pathogenic g.1674436C>T g.1771142C>T - - SERPINF1_000034 - - - - Germline - - - - - Muhammad Umair
+/+ 4 c.397C>T r.(?) p.(Gln133*) - pathogenic g.1674436C>T - - - SERPINF1_000034 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.397C>T r.(?) p.(Gln133*) - pathogenic g.1674436C>T - - - SERPINF1_000034 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+ 4 c.421dup r.(?) p.(Arg141Profs*5) - pathogenic g.1674460dup - c.421dupC - SERPINF1_000016 - PubMed: Cho 2013 - - Germline - - - - - Raymond Dalgleish
+/+ 4 c.423del r.(?) p.(Ile142Serfs*9) - pathogenic g.1674462del - c.423delG - SERPINF1_000006 - PubMed: Venturi 2011 - - Germline - - - - - Raymond Dalgleish
-?/. - 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
+/+ 4i c.439+34C>T r.spl p.? - pathogenic g.1674512C>T - - - SERPINF1_000052 - PubMed: Jin 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 4i c.439+127_643+545del r.spl p.Lys147_Gly215delinsArg - pathogenic g.1674605_1675914del - - - SERPINF1_000009 - PubMed: Rauch 2012 - - Germline - - - - - Raymond Dalgleish
-?/. - 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
-?/. - 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
+/+ 4i c.440-40_440-38del r.spl p.? - pathogenic g.1675126_1675128del - c.440-40_440-38delTCG - SERPINF1_000026 The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The deletion (c.-202_-200delTCG) results in altered expression of that transcript. PubMed: Ziff 2016 - - Germline - - - - - Raymond Dalgleish
-/? 4i c.440-39C>T r.(?) p.(=) - benign g.1675127C>T - - - SERPINF1_000039 - - - - Germline - - - - - Ahmed Khairy Saad
?/? 4i c.440-39C>T r.(?) p.(=) - VUS g.1675127C>T - - - SERPINF1_000039 - - - - Germline - - - - - Ahmed Khairy Saad
?/- 4i c.440-28C>T r.(?) p.(=) - VUS g.1675138C>T - - - SERPINF1_000041 - - - - Germline - - - - - Ahmed Khairy Saad
+/+ 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
+/+ 5 c.441G>C r.(?) p.(Lys147Asn) - pathogenic g.1675167G>C - - - SERPINF1_000027 The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript. PubMed: Ziff 2016 - rs138341386 Germline - - - - - Raymond Dalgleish
+/+ 5 c.441G>C r.(?) p.(Lys147Asn) - pathogenic g.1675167G>C - - - SERPINF1_000027 The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript. PubMed: Ziff 2016 - rs138341386 Germline - - - - - Raymond Dalgleish
?/. - 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
+/. 5 c.498_499del r.(?) p.(Arg167Serfs*35) - pathogenic (recessive) g.1675224_1675225del g.1771930_1771931del 498_499delCA - SERPINF1_000031 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/+ 5 c.498_499del r.(?) p.(Arg167Serfs*35) - pathogenic g.1675224_1675225del - - - SERPINF1_000031 - PubMed: Wang 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 5 c.532C>T r.(?) p.(Gln178*) - pathogenic g.1675258C>T - - - SERPINF1_000021 - PubMed: Stephen 2015 - - Germline - - - - - Raymond Dalgleish
+/+ 5 c.540dup r.(?) p.(Asn181Glnfs*22) - pathogenic g.1675266dup - c.540dupC - SERPINF1_000018 This variant has been reported in the heterozygous state, but leads to a premature stop codon and is therefore clearly pathogenic. PubMed: Al-Jallad 2014 - - Germline - - - - - Raymond Dalgleish
-?/. - 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
+/+ 5 c.601G>A r.(?) p.(Asp201Asn) - pathogenic g.1675327G>A - - - SERPINF1_000028 - PubMed: Ziff 2016 - rs137997656 Germline - - - - - Raymond Dalgleish
+/+ 5 c.620T>G r.(?) p.(Leu20Arg) - pathogenic g.1675346T>G - - - SERPINF1_000053 - PubMed: Mohd Nawawi 2018 - - Germline - - - - - Raymond Dalgleish
?/. - c.620T>G r.(?) p.(Leu207Arg) - VUS g.1675346T>G g.1772052T>G - - SERPINF1_000053 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
+?/. - 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
-?/. - 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
-/. - 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
-/. - 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
+?/-? 5i c.643+82T>C r.spl p.? - likely pathogenic g.1675451T>C - - - SERPINF1_000067 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
+?/-? 5i c.643+82T>C r.spl p.? - likely pathogenic g.1675451T>C - - - SERPINF1_000067 - PubMed: Barbirato 2016 - - Germline - - - - - Raymond Dalgleish
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