Unique variants in the SFTPC gene

Information The variants shown are described using the NM_003018.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/. 1 - c.? r.(?) p.? - pathogenic g.? - 140delA - SFTPC_000000 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
?/. 1 - c.-7652C>G r.(?) p.(=) - VUS g.22011690C>G g.22154177C>G LGI3(NM_139278.2):c.387G>C (p.(Lys129Asn)) - LGI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-6391C>G r.(?) p.(=) - VUS g.22012951C>G g.22155438C>G LGI3(NM_139278.2):c.232G>C (p.(Glu78Gln)) - LGI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-5442G>C r.(?) p.(=) - VUS g.22013900G>C g.22156387G>C LGI3(NM_139278.3):c.156C>G (p.C52W) - LGI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.88C>T r.(?) p.(Pro30Leu) - pathogenic g.22020132C>T g.22162619C>T - - SFTPC_000010 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
?/? 1 2 c.178A>G r.(?) p.(Met60Val) - VUS g.22020222A>G g.22162709A>G - - SFTPC_000027 - - - - Germline - - - - - Joanne van der Vis
?/? 1 2 c.180G>A r.(?) p.(Met60Ile) - VUS g.22020224G>A g.22162711G>A - - SFTPC_000028 - PubMed: Juge 2017 - - Germline - - - - - Joanne van der Vis
+/. 1 2 c.196G>A r.(?) p.(Glu66Lys) - pathogenic g.22020240G>A g.22162727G>A - - SFTPC_000002 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917836 Unknown - - - - - Donatella Peca
+?/+? 1 3 c.211A>G r.(?) p.(Met71Val) - likely pathogenic g.22020602A>G g.22163089A>G - - SFTPC_000029 - PubMed: van Moorsel 2010 - - Germline - - - - - Joanne van der Vis
+/+, +/. 16 3 c.218T>C r.(?) p.(Ile73Thr) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Coghlan 2014, PubMed: Cottin 2011, PubMed: Juge 2017, PubMed: Peca 2015, Journal: Peca 2015, 1 more item - rs121917834 Germline, Germline/De novo (untested), Unknown ? - - - - Johan den Dunnen, Donatella Peca, Joanne van der Vis
+/. 1 4 c.228T>C r.(?) p.(Ile73Thr) - pathogenic g.22020619T>C g.22163106T>C - - SFTPC_000011 1 more item PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
-?/. 1 - c.288C>T r.(?) p.(Ile96=) - likely benign g.22020679C>T g.22163166C>T SFTPC(NM_003018.3):c.288C>T (p.I96=) - SFTPC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 3 3 c.298G>A r.(?) p.(Gly100Ser) - VUS g.22020689G>A g.22163176G>A - - SFTPC_000030 - PubMed: Ono 2011 - - Germline - - - - - Joanne van der Vis
+/. 1 4 c.299G>T r.(?) p.(Gly100Val) - pathogenic g.22020690G>T g.22163177G>T - - SFTPC_000012 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
+/., ?/? 2 3 c.304G>A r.(?) p.(Val102Met) - pathogenic, VUS g.22020695G>A g.22163182G>A - - SFTPC_000003 - PubMed: Fattori 2019, PubMed: Peca 2015, Journal: Peca 2015 - rs772568845 Germline, Unknown - - - - - Donatella Peca, Joanne van der Vis
+/. 1 4 c.310T>C r.(?) p.(Tyr104His) - pathogenic g.22020701T>C g.22163188T>C - - SFTPC_000013 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
?/? 1 4 c.329T>G r.(?) p.(Leu110Arg) - VUS g.22020953T>G g.22163440T>G - - SFTPC_000031 - PubMed: Coghlan 2014 - rs1003901489 Germline - - - - - Joanne van der Vis
?/? 1 4 c.334G>A r.(?) p.(Ala112Thr) - VUS g.22020958G>A g.22163445G>A - - SFTPC_000032 - PubMed: Coghlan 2014 - - Germline - - - - - Joanne van der Vis
?/? 2 4 c.338A>G r.(?) p.(Tyr113Cys) - VUS g.22020962A>G g.22163449A>G - - SFTPC_000033 - - - - Germline - - - - - Joanne van der Vis
+/. 1 4 c.344C>T r.(?) p.(Pro115Leu) - pathogenic g.22020968C>T g.22163455C>T - - SFTPC_000014 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
+/. 1 5 c.377T>G r.(?) p.(Ile126Arg) - pathogenic g.22021001T>G g.22163488T>G - - SFTPC_000015 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
+?/+? 1 4 c.397A>C r.(?) p.(Ser133Arg) - likely pathogenic g.22021021A>C g.22163508A>C - - SFTPC_000034 - PubMed: Kazzi 2018 - - De novo - - - - - Joanne van der Vis
?/? 1 4 c.410T>C r.(?) p.(Leu137Pro) - VUS g.22021034T>C g.22163521T>C - - SFTPC_000035 - - - - Germline - - - - - Joanne van der Vis
-/. 1 - c.413C>A r.(?) p.(Thr138Asn) - benign g.22021037C>A g.22163524C>A SFTPC(NM_001172357.2):c.413C>A (p.T138N) - SFTPC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 4 c.435G>A r.(325_435del), r.325_435del p.(Leu109_Gln145del), p.Leu109_Gln145del - pathogenic g.22021059G>A g.22163546G>A - - SFTPC_000008 - PubMed: Litao 2017, Journal: Litao 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen, Pascale Fanen
+/. 1 4 c.435G>C r.325_435del p.Leu109_Gln145del - pathogenic g.22021059G>C g.22163546G>C - - SFTPC_000006 - - - - Unknown - - - - - Pascale Fanen
+/. 2 4i c.435+1G>A r.325_435del p.Leu109_Gln145del - NA, pathogenic g.22021060G>A g.22163547G>A - - SFTPC_000007 consequences on splicing determined using a mini-gene construct, 1 more item Fanen, submitted, PubMed: Nogee 2001, Journal: Nogee 2001, OMIM:var0001 - - Germline, In vitro (cloned) -, yes - BstNI- - - Johan den Dunnen, Pascale Fanen
+/. 1 5i c.435+1G>T r.spl p.? - pathogenic g.22021060G>T g.22163547G>T 460+1G>T - SFTPC_000009 variant not in 100 control chromosomes PubMed: Nogee 2002 - - De novo - 1/34 cases - - - Johan den Dunnen
+/+ 1 - c.435+2T>C r.spl? p.? - pathogenic g.22021061T>C g.22163548T>C - - SFTPC_000036 - PubMed: van Moorsel 2010 - - Germline - - - - - Joanne van der Vis
?/. 1 5 c.463G>C r.(?) p.(Ala155Pro) - VUS g.22021423G>C g.22163910G>C - - SFTPC_000005 - PubMed: Peca 2015, Journal: Peca 2015 - rs202145169 Unknown - - - - - Donatella Peca
?/. 1 - c.487C>T r.(?) p.(Gln163Ter) - VUS g.22021447C>T g.22163934C>T SFTPC(NM_001172357.1):c.469C>T (p.(Gln157Ter)) - SFTPC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 5 c.518C>A r.(?) p.(Pro173His) - VUS g.22021478C>A g.22163965C>A - - SFTPC_000004 - PubMed: Peca 2015, Journal: Peca 2015 - - Unknown - - - - - Donatella Peca
?/. 1 - c.541C>G r.(?) p.(Leu181Val) - VUS g.22021501C>G g.22163988C>G SFTPC(NM_003018.3):c.541C>G (p.L181V) - SFTPC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.557G>A r.(?) p.(Ser186Asn) - benign g.22021517G>A g.22164004G>A SFTPC(NM_001172357.2):c.539G>A (p.S180N) - SFTPC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 6 c.560C>A r.(?) p.(Thr187Asn) - pathogenic g.22021520C>A g.22164007C>A - - SFTPC_000016 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
+/+ 1 5 c.563T>A r.(?) p.(Leu188Gln) - pathogenic g.22021523T>A g.22164010T>A 5+128T>A - SFTPC_000037 - PubMed: Thomas 2002, PubMed: Chibbar 2004 - rs121917835 Germline - - - - - Joanne van der Vis
+/. 1 6 c.563T>G r.(?) p.(Leu188Arg) - pathogenic g.22021523T>G g.22164010T>G - - SFTPC_000017 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - - - Johan den Dunnen
?/? 1 5 c.566G>A r.(?) p.(Cys189Tyr) - VUS g.22021526G>A g.22164013G>A - - SFTPC_000038 - PubMed: Guillot 2009 - - Germline - - - - - Joanne van der Vis
+?/+? 1 5 c.581T>C r.(?) p.(Leu194Pro) - likely pathogenic g.22021541T>C g.22164028T>C - - SFTPC_000039 - PubMed: Guillot 2009 - rs121918560 Germline - - - - - Joanne van der Vis
-/. 1 - c.*123G>A r.(=) p.(=) - benign g.22021883G>A g.22164370G>A SFTPC(NM_001172357.2):c.*329G>A - SFTPC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*174G>A r.(=) p.(=) - benign g.22021934G>A g.22164421G>A SFTPC(NM_001172357.2):c.*380G>A - SFTPC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*1164C>A r.(=) p.(=) - likely benign g.22022924C>A - BMP1(NM_006129.4):c.6C>A (p.P2=) - SFTPC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1276C>G r.(=) p.(=) - VUS g.22023036C>G g.22165523C>G BMP1(NM_001199.3):c.118C>G (p.(Pro40Ala)) - BMP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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