Unique variants in the ABCC6 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001171.5 transcript reference sequence.

549 entries on 6 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     
./. 1 - c.-243860_*1438609dup r.? p.? - pathogenic g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-71169_*749286del r.? p.? - pathogenic g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_1i c.-3189_36+1181del r.(=) p.0 - pathogenic g.16316077_16320482del g.16222220_16226625del 1-3189_36+1181del - ABCC6_000382 - PubMed: Chassaing 2007 - - Germline - - - - - Tim Hefferon
-?/. 1 _1 c.-219A>C - - - likely benign g.16317510T>G g.16223653T>G 1-219A>C - ABCC6_000419 - PubMed: Pulkkinen 2001 - - Germline - 0.050 - - - Johan den Dunnen
-?/. 1 _1 c.-132C>T - - - likely benign g.16317423G>A g.16223566G>A 1-132C>T - ABCC6_000418 - PubMed: Pulkkinen 2001 - - Germline - 0.047 - - - Johan den Dunnen
-?/. 1 _1 c.-127C>T - - - likely benign g.16317418G>A g.16223561G>A 1-127C>T - ABCC6_000417 - PubMed: Pulkkinen 2001 - - Germline - 0.143 - - - Johan den Dunnen
+/. 12 _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-2_-1insTGCC r.(?) p.(=) - likely benign g.16317295_16317296insAGGC g.16223438_16223439insAGGC ABCC6(NM_001171.5):c.-2_-1insTGCC - ABCC6_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 _1_21i c.(?_-1)_(2787+1_2788-1)del r.0 p.0 - pathogenic g.(16263711_16267140)_(16317292_?)del - 1-2787+?del - ABCC6_000373 M1_R929 del PubMed: Miksch 2005 - - Germline - - - - - Tim Hefferon
+/+ 1 _1_31_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_16243989)_(16317292_?)del - - - ABCC6_000399 del ABCC6; not in 114 controls PubMed: Bergen 2000 - - Germline - - - - - Tim Hefferon
+/+ 1 22i_29i c.(2995+1_2996-1)_(4208+1_42091-)del r.? p.? - pathogenic g.(16244630_16248484)_(16259791_16263502)del - del23-29 - ABCC6_000411 - PubMed: Audo 2007 - - Germline - - - - - Johan den Dunnen
+/+ 4 _1_31_ c.0 r.0 p.0 - pathogenic g.16243989_16317292del - - - ABCC6_000350 4 more items PubMed: Meloni 2001, PubMed: Miksch 2005 - - Germline - - - - - Tim Hefferon
+/+ 1 17i c.2248-2_1delAG r.spl p.? - pathogenic g.16272823_16272824del g.16178966_16178967del IVS17del-2,-1 - ABCC6_000363 1 more item PubMed: Gheduzzi 2004 - - Germline - - - - - Tim Hefferon
+/+ 1 17i c.2416-2_1delAG r.spl p.? - pathogenic g.16271484_16271485del g.16177627_16177628del IVS18-2delAG - ABCC6_000405 1 more item - - - Germline - - - - - Tim Hefferon
+/+ 1 17i c.2248-12_11delTT r.spl p.? - pathogenic g.16272833_16272834del g.16178976_16178977del IVS17-12delTT - ABCC6_000359 1 more item PubMed: Hu 2003 - - Germline - - - - - Tim Hefferon
+/. 1 1i c.36+1G>T r.spl p.? - pathogenic g.16317255C>A g.16223398C>A - - ABCC6_000414 - Legrand, submitted - - Germline - - - - - Anne Legrand
+/+, ?/. 2 1i c.37-1G>A r.(=), r.spl p.? - pathogenic, VUS g.16315689C>T g.16221832C>T - - ABCC6_000221 - PubMed: Schulz 2006 - rs72657702 Germline - - - - - Tim Hefferon
-/. 1 - c.39C>T r.(?) p.(Val13=) - benign g.16315686G>A g.16221829G>A ABCC6(NM_001171.5):c.39C>T (p.V13=) - ABCC6_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.67G>T r.(?) p.(Ala23Ser) - likely benign g.16315658C>A g.16221801C>A ABCC6(NM_001171.5):c.67G>T (p.A23S) - ABCC6_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.96G>A r.(?) p.(Leu32=) - likely benign g.16315629C>T - ABCC6(NM_001171.5):c.96G>A (p.L32=) - ABCC6_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/., ?/? 3 2 c.105del r.(?) p.(Val37Serfs*44) - pathogenic, VUS g.16315620del g.16221763del - - ABCC6_000001 corrected from p.(Ser37fs*80) PubMed: Miksch 2005 - rs72664223 Germline - - - - - Tim Hefferon
+/., +/?, ?/. 3 2 c.113G>C r.(?) p.(Trp38Ser) - pathogenic, VUS g.16315612C>G g.16221755C>G - - ABCC6_000002 - Legrand, submitted, PubMed: Schulz 2006 - rs72653752 Germline - - - - - Tim Hefferon, Anne Legrand
-?/. 1 - c.117A>G r.(?) p.(Val39=) - likely benign g.16315608T>C g.16221751T>C ABCC6(NM_001171.5):c.117A>G (p.V39=) - ABCC6_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.123dup r.(?) p.(Met42HisfsTer59) - pathogenic g.16315607dup g.16221750dup ABCC6(NM_001171.5):c.123dupC (p.M42Hfs*59) - ABCC6_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.177_181del r.(?) p.(Arg60Leufs*39) - pathogenic g.16315546_16315550del g.16221689_16221693del - - ABCC6_000385 - PubMed: Vanakker 2008 - - Germline - - - - - Tim Hefferon
?/. 1 1i c.179-195del r.(=) p.(=) - VUS g.16315741del g.16221884del - - ABCC6_000338 1 more item - - rs72664224 Germline - - - - - Tim Hefferon
-/., -?/. 2 - c.179G>A r.(?) p.(Arg60Gln) - benign, likely benign g.16315546C>T g.16221689C>T ABCC6(NM_001171.5):c.179G>A (p.R60Q) - ABCC6_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+, ?/? 5 2, 20i c.179_187del r.(?) p.(Arg60_Tyr62del) - pathogenic, VUS g.16315540_16315548del g.16221683_16221691del 177-185del9, 179del12ins3, 179del12insTCC, 179del9 - ABCC6_000220, ABCC6_000379, ABCC6_000406 - PubMed: Pfendner 2007, PubMed: Pulkkinen 2001 - rs74315110 Germline yes - - - - Tim Hefferon
+/+ 1 2 c.179_195del r.(?) p.(Arg60Leufs*35) - pathogenic g.16315530_16315546del g.16221673_16221689del - - ABCC6_000352 - PubMed: Le Saux 2001 - - Germline - - - - - Tim Hefferon
-/- 1 2 c.182G>A r.(?) p.(Gly61Asp) - benign g.16315543C>T g.16221686C>T - - ABCC6_000003 - PubMed: Le Saux 2001 - rs72657696 Germline - - - - - Tim Hefferon
?/. 1 2 c.(191G>A) r.(?) p.(Arg64Gln) - NA g.16315534C>T g.16221677C>T - - ABCC6_000415 variant co-amplified from ABCC6P1 (scored as heterozygous) PubMed: Pulkkinen 2001 - - Artefact - - - - - Johan den Dunnen
?/. 1 - c.194T>A r.(?) p.(Met65Lys) - VUS g.16315531A>T - ABCC6(NM_001171.5):c.194T>A (p.M65K) - ABCC6_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.(196dupT) r.(?) p.(Ser66Phefs*35) - NA g.16315529dupA g.16221672dupA 196insT - ABCC6_000416 1 more item PubMed: Pulkkinen 2001 - - Artefact - - - - - Johan den Dunnen
+/+?, ?/. 2 2i c.220-1G>C r.spl p.? - pathogenic, VUS g.16313805C>G g.16219948C>G - - ABCC6_000342 - PubMed: Pfendner 2007 - rs72664203 Germline - - - - - Tim Hefferon
+/+, ?/. 2 3 c.220_222del r.(?) p.(Val74del) - pathogenic, VUS g.16313803_16313805del g.16219946_16219948del - - ABCC6_000004 - PubMed: Chassaing 2004 - rs72664225 Germline - - - - - Tim Hefferon
+?/., -?/., ?/? 4 1, 3, 30i c.232G>A r.(?) p.(Ala78Thr) - likely benign, likely pathogenic, VUS g.16313792C>T g.16219935C>T ABCC6(NM_001171.5):c.232G>A (p.A78T), c.232G>A - ABCC6_000408 VKGL data sharing initiative Nederland PubMed: Booij-2011, PubMed: Pulkkinen 2001 - rs2856597 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Tim Hefferon, VKGL-NL_Rotterdam
+/. 1 3 c.280_281insG r.(?) p.(Ile94Serfs*7) - pathogenic g.16313743_16313744insC g.16219886_16219887insC 281insG - ABCC6_000421 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.302C>G r.(?) p.(Ala101Gly) - likely benign g.16313722G>C - ABCC6(NM_001171.5):c.302C>G (p.A101G) - ABCC6_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/., ?/. 3 3i c.345+26C>T r.(=) p.(=) - benign, VUS g.16313653G>A g.16219796G>A ABCC6(NM_001171.5):c.345+26C>T - ABCC6_000222 VKGL data sharing initiative Nederland PubMed: Miksch 2005 - rs56019914 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_AMC
-/-, -/., -?/., ?/., ?/? 7 3i c.346-6G>A r.(=), r.(?) p.(=) - benign, likely benign, VUS g.16313545C>T g.16219688C>T ABCC6(NM_001171.5):c.346-6G>A (, p.(=)), ABCC6(NM_001351800.1):c.4-6G>A - ABCC6_000223 VKGL data sharing initiative Nederland PubMed: Le Saux 2001, PubMed: Pulkkinen 2001 - rs55778939 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Tim Hefferon, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 1 c.373G>A r.(?) p.(Glu125Lys) - likely pathogenic g.16313512C>T - c.373G>A - ABCC6_000550 - PubMed: Booij-2011 - rs3853814 Germline - - - - - LOVD
+/+ 1 4 c.373G>T r.(?) p.(Glu125*) - pathogenic g.16313512C>A g.16219655C>A - - ABCC6_000368 - PubMed: Miksch 2005 - - Germline - - - - - Tim Hefferon
+/+, ?/. 2 4 c.386G>A r.(?) p.(Gly129Glu) - pathogenic, VUS g.16313499C>T g.16219642C>T - - ABCC6_000005 - PubMed: Miksch 2005 - rs72653753 Germline - - - - - Tim Hefferon
+?/., -/-, ?/. 3 1, 4 c.473C>T r.(?) p.(Ala158Val) - benign, likely pathogenic, VUS g.16313412G>A g.16219555G>A c.473C>T - ABCC6_000006 - PubMed: Booij-2011, PubMed: Schulz 2005 - rs2606921 Germline - - - - - Tim Hefferon
-/-, ?/. 2 4i c.475-45C>T r.(=) p.(=) - benign, VUS g.16308351G>A g.16214494G>A - - ABCC6_000224 - PubMed: Miksch 2005 - rs2239319 Germline - - - - - Tim Hefferon
-?/. 1 - c.486C>T r.(?) p.(Ser162=) - likely benign g.16308295G>A g.16214438G>A - - ABCC6_000523 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.487G>A r.(?) p.(Asp163Asn) - benign g.16308294C>T g.16214437C>T ABCC6(NM_001171.5):c.487G>A (p.D163N) - ABCC6_000498 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.507C>T r.(?) p.(Ser169=) - likely benign g.16308274G>A g.16214417G>A ABCC6(NM_001171.5):c.507C>T (p.S169=) - ABCC6_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.518G>A r.(?) p.(Cys173Tyr) - likely benign g.16308263C>T g.16214406C>T ABCC6(NM_001171.5):c.518G>A (p.(Cys173Tyr)) - ABCC6_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 1 c.527T>C r.(?) p.(Leu176Pro) - likely pathogenic g.16308254A>G - c.527T>C - ABCC6_000549 - PubMed: Booij-2011 - - Germline - - - - - LOVD
-/-, ?/. 3 2, 5 c.549G>A r.(?) p.(=), p.(Leu183=) - benign, VUS g.16308232C>T g.16214375C>T L183L - ABCC6_000007 - PubMed: Le Saux 2000 - rs72664281 Germline yes - - - - Tim Hefferon
+/+, +/. 10 5 c.595C>T r.(?) p.(Gln199*) - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017, PubMed: Yoshida 2005 - - Germline - - - - - Johan den Dunnen, Tim Hefferon
-/-, ?/. 2 5i c.600+23C>T r.(=) p.(=) - benign, VUS g.16308158G>A g.16214301G>A - - ABCC6_000225 - PubMed: Miksch 2005 - rs72664290 Germline - - - - - Tim Hefferon
-/-?, ?/. 2 6 c.619G>A r.(?) p.(Gly207Arg) - benign, VUS g.16306085C>T g.16212228C>T - - ABCC6_000008 - PubMed: Le Saux 2001 - rs72657697 Germline - - - - - Tim Hefferon
-/-, -/. 2 6 c.645G>A r.(?) p.(Thr215=) - benign g.16306059C>T g.16212202C>T ABCC6(NM_001171.5):c.645G>A (p.T215=), Thr215Thr - ABCC6_000009 VKGL data sharing initiative Nederland PubMed: Pulkkinen 2001 - rs72664282 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_AMC
?/., ?/? 3 6 c.654G>T r.(?) p.(Trp218Cys) - VUS g.16306050C>A g.16212193C>A - - ABCC6_000010 - PubMed: Ringpfeil 2006 - rs72653754 Germline - - - - - Tim Hefferon
-/-, -/. 2 6i c.662+12C>T r.(=), r.(?) p.(=) - benign g.16306030G>A g.16212173G>A ABCC6(NM_001171.5):c.662+12C>T - ABCC6_000226 VKGL data sharing initiative Nederland PubMed: Pulkkinen 2001 - rs72664291 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_AMC
-/- 1 6i c.662+114T>C r.(?) p.(=) - benign g.16305928A>G g.16212071A>G - - ABCC6_000227 - PubMed: Pulkkinen 2001 - rs2239320 Germline - 0.063 - - - Tim Hefferon
-/- 1 6i c.662+298C>G r.(?) p.(=) - benign g.16305744G>C g.16211887G>C - - ABCC6_000228 - PubMed: Pulkkinen 2001 - rs72664292 Germline - - - - - Tim Hefferon
-/- 1 6i c.662+305T>G r.(?) p.(=) - benign g.16305737A>C g.16211880A>C - - ABCC6_000229 - PubMed: Pulkkinen 2001 - rs72664293 Germline - - - - - Tim Hefferon
-/- 1 6i c.662+403T>A r.(?) p.(=) - benign g.16305639A>T g.16211782A>T - - ABCC6_000230 - PubMed: Pulkkinen 2001 - rs72664294 Germline - - - - - Tim Hefferon
-/. 1 - c.663-3C>T r.spl? p.? - benign g.16302719G>A - ABCC6(NM_001351800.1):c.321-3C>T - ABCC6_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, ?/., ?/? 3 7 c.676G>A r.(?) p.(Gly226Arg) - pathogenic, VUS g.16302703C>T g.16208846C>T - - ABCC6_000011 - PubMed: Chassaing 2005 - rs72653755 Germline - - - - - Tim Hefferon
+/+ 1 7 c.681C>G r.(?) p.(Tyr227*) - pathogenic g.16302698G>C g.16208841G>C - - ABCC6_000351 - PubMed: Meloni 2001 - - Germline - - - - - Tim Hefferon
+/+ 1 7 c.708_709dup r.(?) p.(Trp237Serfs*22) - pathogenic g.16302672_16302673dup g.16208815_16208816dup 708_709dupCT - ABCC6_000398 - PubMed: Tan 2012 - - Germline - - - - - Tim Hefferon
+/+, ?/. 2 7 c.724G>T r.(?) p.(Glu242*) - pathogenic, VUS g.16302655C>A g.16208798C>A - - ABCC6_000012 - PubMed: Pfendner 2007 - rs72650697 Germline - - - - - Tim Hefferon
+/., -?/., ?/., ?/? 8 7 c.742C>T r.(?) p.(Leu248Phe) - likely benign, pathogenic, VUS g.16302637G>A g.16208780G>A ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)) - ABCC6_000013 VKGL data sharing initiative Nederland Legrand, submitted - rs72653756 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_Leiden, Anne Legrand, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/?, ?/. 2 7 c.754C>T r.(?) p.(Leu252Phe) - likely pathogenic, VUS g.16302625G>A g.16208768G>A - - ABCC6_000014 - PubMed: Schulz 2006 - rs72653757 Germline - - - - - Tim Hefferon
?/? 1 7 c.754V>T r.(?) p.(Leu252Phe) - VUS g.16302625B>A g.16208768B>A - - ABCC6_000377 1 more item PubMed: Schulz 2006 - - Germline - - - - - Tim Hefferon
-?/. 1 - c.777C>T r.(?) p.(Asn259=) - likely benign g.16302602G>A g.16208745G>A - - ABCC6_000522 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 7 c.787G>T r.(?) p.(Ala263Ser) - likely pathogenic g.16302592C>A g.16208735C>A - - ABCC6_000424 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - Johan den Dunnen
-/-, -/., -?/., ?/. 6 7 c.793A>G r.(?) p.(Arg265Gly) - benign, likely benign, VUS g.16302586T>C g.16208729T>C ABCC6(NM_001171.5):c.793A>G (p.R265G), ABCC6(NM_001351800.1):c.451A>G (p.R151G) - ABCC6_000015 VKGL data sharing initiative Nederland PubMed: Le Saux 2001, PubMed: Pulkkinen 2001 - rs72657698 CLASSIFICATION record, Germline - 0.086 - - - Johan den Dunnen, Tim Hefferon, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.794+20G>A r.(=) p.(=) - likely benign g.16302565C>T g.16208708C>T ABCC6(NM_001171.5):c.794+20G>A - ABCC6_000496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.829G>A r.(?) p.(Gly277Ser) - likely benign, VUS g.16297436C>T g.16203579C>T ABCC6(NM_001171.5):c.829G>A (p.G277S), ABCC6(NM_001351800.1):c.487G>A (p.G163S) - ABCC6_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/-, ?/. 2 8 c.841A>G r.(?) p.(Lys281Glu) - benign, VUS g.16297424T>C g.16203567T>C - - ABCC6_000016 - PubMed: Le Saux 2001 - rs4780606 Germline - - - - - Tim Hefferon
-/-, ?/. 2 8 c.855C>T r.(?) p.(=), p.(Thr285=) - benign, VUS g.16297410G>A g.16203553G>A Thr285Thr - ABCC6_000017 - PubMed: Le Saux 2002 - rs4780605 Germline - - - - - Tim Hefferon
?/., ?/? 2 8 c.865_889del r.(?) p.(Leu289Alafs*4) - VUS g.16297377_16297401del g.16203520_16203544del - - ABCC6_000018 - PubMed: Le Saux 2002 - rs74315139 Germline - - - - - Tim Hefferon
+?/. 1 - c.883del r.(?) p.(Gln295SerfsTer6) - likely pathogenic g.16297383del - ABCC6(NM_001351800.1):c.541delC (p.Q181Sfs*6) - ABCC6_000537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/+, ?/. 3 8 c.938dup r.(?) p.(Thr315Aspfs*8) - pathogenic, VUS g.16297327dup g.16203470dup 938-939insT, 938_939insT - ABCC6_000019, ABCC6_000360 - PubMed: Le Saux 2001 - rs72664216 Germline - - - - - Tim Hefferon
?/. 1 8 c.951C>A r.(?) p.(Ser317Arg) - VUS g.16297314G>T g.16203457G>T - - ABCC6_000020 - - - rs78678589 Germline - - - - - Tim Hefferon
?/. 1 8 c.951C>G r.(?) p.(Ser317Arg) - VUS g.16297314G>C g.16203457G>C - - ABCC6_000021 - - - rs78678589 Germline - - - - - Tim Hefferon
+/+, ?/? 4 8 c.951C>R r.(?) p.(Ser317Arg) - pathogenic, VUS g.16297314G>Y g.16203457G>Y 951C>A/G - ABCC6_000369 1 more item PubMed: Miksch 2005, PubMed: Pfendner 2007 - - Germline - - - - - Tim Hefferon
-/-, -?/., ?/. 3 8 c.955A>G r.(?) p.(Ile319Val) - benign, likely benign, VUS g.16297310T>C g.16203453T>C ABCC6(NM_001171.5):c.955A>G (p.I319V) - ABCC6_000022 VKGL data sharing initiative Nederland PubMed: Le Saux 2001 - rs72657699 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_Rotterdam
+/+, ?/. 2 8 c.960del r.(?) p.(Ser321Valfs*35) - pathogenic, VUS g.16297305del g.16203448del - - ABCC6_000023 - PubMed: Meloni 2001 - rs72664226 Germline - - - - - Tim Hefferon
+/. 1 8 c.994del r.(?) p.(Leu332Serfs*24) - pathogenic g.16297271del g.16203414del - - ABCC6_000423 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - Johan den Dunnen
+/+?, ?/., ?/? 3 8i c.998+2del r.(spl?), r.spl p.? - pathogenic, VUS g.16297265del g.16203408del - - ABCC6_000339 - - - rs72664205 Germline - - - - - Tim Hefferon
+/+, ?/., ?/? 4 8i c.998+2_998+3del r.(spl?), r.spl p.? - pathogenic, VUS g.16297265_16297266del g.16203408_16203409del 997+2delTG, IVS8+2delTG - ABCC6_000340, ABCC6_000367 - PubMed: Chassaing 2005 - rs72664204 Germline - - - - - Tim Hefferon
-?/. 1 - c.998+5G>A r.spl? p.? - likely benign g.16297262C>T g.16203405C>T ABCC6(NM_001171.5):c.998+5G>A (p.?) - ABCC6_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.998+13C>T r.(=) p.(=) - likely benign g.16297254G>A - ABCC6(NM_001351800.1):c.656+13C>T - ABCC6_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 9 c.1007A>G r.(?) p.(=) - benign g.16296027T>C g.16202170T>C 1077A>G (Ser359Ser) - ABCC6_000356 1 more item PubMed: Cai 2001 - - Germline - - - - - Tim Hefferon
+/+, +?/., ?/. 3 9 c.1064T>G r.(?) p.(Leu355Arg) - likely pathogenic, pathogenic, VUS g.16295970A>C g.16202113A>C - - ABCC6_000024 VKGL data sharing initiative Nederland PubMed: Miksch 2005 - rs72653758 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_Nijmegen
+?/., ?/. 3 1, 9 c.(1077A>G), c.1077A>G r.(?) p.(=), p.(Ser359=) - likely pathogenic, NA, VUS g.16295957T>C g.16202100T>C c.1077A>G - ABCC6_000025 variant co-amplified from ABCC6P1 (scored as heterozygous) PubMed: Booij-2011, PubMed: Pulkkinen 2001 - rs72664283 Artefact, Germline - - - - - Johan den Dunnen, Tim Hefferon
+/+, ?/., ?/? 3 9 c.1087C>T r.(?) p.(Gln363*) - pathogenic, VUS g.16295947G>A g.16202090G>A - - ABCC6_000026 - PubMed: Pfendner 2007 - rs72650698 Germline - - - - - Tim Hefferon
+/+ 1 9 c.1088_1120del r.(?) p.(Gln363_Arg373del) - pathogenic g.16295916_16295948del g.16202059_16202091del 1088_1120del33 - ABCC6_000029 - PubMed: Chassaing 2004 - rs74315156 Germline - - - - - Tim Hefferon
+/+, ?/. 4 9 c.(1091C>G), c.1091C>G r.(?) p.(Thr364Arg) - NA, pathogenic g.16295943G>C g.16202086G>C - - ABCC6_000027 variant co-amplified from ABCC6P1 (scored as heterozygous) PubMed: Pulkkinen 2001 - rs72653759 Artefact, Germline - - - - - Johan den Dunnen, Tim Hefferon
+/+ 1 9_10i c.1092_1339-1949del r.spl? p.? - pathogenic g.16288729_16295943del g.16194872_16202086del - - ABCC6_000384 - PubMed: Chassaing 2007 - - Germline - - - - - Tim Hefferon
+/+, ?/. 3 9 c.1108A>G r.(?) p.(Asn370Asp) - pathogenic, VUS g.16295926T>C g.16202069T>C ABCC6(NM_001171.5):c.1108A>G (p.N370D) - ABCC6_000028 VKGL data sharing initiative Nederland PubMed: Miksch 2005 - rs72653760 CLASSIFICATION record, Germline - - - - - Tim Hefferon, VKGL-NL_Rotterdam
+/+, +/., +?/., ?/., ?/? 37 1, 9 c.1132C>T r.(?) p.(Gln378*), p.(Gln378Ter) - likely pathogenic, pathogenic, VUS g.16295902G>A g.16202045G>A ABCC6(NM_001171.5):c.1132C>T (p.Q378*), c.1132C>T - ABCC6_000030 VKGL data sharing initiative Nederland Legrand, submitted, PubMed: Booij-2011, PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - rs72650699 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Tim Hefferon, Andreas Laner, Anne Legrand, VKGL-NL_VUmc
+?/., -/-, ?/. 4 1, 9 c.(1141T>C), c.1141T>C r.(?) p.(=), p.(Leu381=) - benign, likely pathogenic, NA, VUS g.16295893A>G g.16202036A>G c.1141T>C, Leu381Leu - ABCC6_000031 variant co-amplified from ABCC6P1 (scored as heterozygous) PubMed: Booij-2011, PubMed: Cai 2001, PubMed: Pulkkinen 2001 - rs72664284 Artefact, Germline - - - - - Johan den Dunnen, Tim Hefferon
+/+, +/+?, ?/. 3 9 c.1144C>T r.(?) p.(Arg382Trp) - pathogenic, VUS g.16295890G>A g.16202033G>A - - ABCC6_000032 - PubMed: Pfendner 2007 - rs72653761 Germline - - - - - Tim Hefferon
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