Full data view for gene ABCC6

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.

1689 entries on 17 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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     
./. - c.-243860_*1438609dup r.? p.? Unknown - pathogenic g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-71169_*749286del r.? p.? Maternal (confirmed) - pathogenic g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/+ _1_1i c.-3189_36+1181del r.(=) p.0 Unknown - pathogenic g.16316077_16320482del g.16222220_16226625del 1-3189_36+1181del - ABCC6_000382 - PubMed: Chassaing 2007 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Chassaing 2007 - - - - - - 0 - - 1 Tim Hefferon
-?/. _1 c.-219A>C - - Unknown - likely benign g.16317510T>G g.16223653T>G 1-219A>C - ABCC6_000419 - PubMed: Pulkkinen 2001 - - Germline - 0.050 - 0 - DNA SEQ - - ? 11702217-? PubMed: Pulkkinen 2001 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. _1 c.-132C>T - - Unknown - likely benign g.16317423G>A g.16223566G>A 1-132C>T - ABCC6_000418 - PubMed: Pulkkinen 2001 - - Germline - 0.047 - 0 - DNA SEQ - - ? 11702217-? PubMed: Pulkkinen 2001 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. _1 c.-127C>T - - Unknown - likely benign g.16317418G>A g.16223561G>A 1-127C>T - ABCC6_000417 - PubMed: Pulkkinen 2001 - - Germline - 0.143 - 0 - DNA SEQ - - ? 11702217-? PubMed: Pulkkinen 2001 - - - United States - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat51 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat52 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat53 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat54 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat55 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat56 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat11 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat12 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat13 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat14 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat30 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat31 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.-2_-1insTGCC r.(?) p.(=) Unknown - likely benign g.16317295_16317296insAGGC g.16223438_16223439insAGGC ABCC6(NM_001171.5):c.-2_-1insTGCC - ABCC6_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_21i c.(?_-1)_(2787+1_2788-1)del r.0 p.0 Unknown - pathogenic g.(16263711_16267140)_(16317292_?)del - 1-2787+?del - ABCC6_000373 M1_R929 del PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
+/+ _1_31_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #1 - pathogenic g.(?_16243989)_(16317292_?)del - - - ABCC6_000399 del ABCC6; not in 114 controls PubMed: Bergen 2000 - - Germline - - - 0 - DNA BESS - - PXE - PubMed: Bergen 2000 - - - - - - 0 - - 1 Tim Hefferon
+/+ 22i_29i c.(2995+1_2996-1)_(4208+1_42091-)del r.? p.? Parent #2 - pathogenic g.(16244630_16248484)_(16259791_16263502)del - del23-29 - ABCC6_000411 - PubMed: Audo 2007 - - Germline - - - 0 - DNA SEQ - - PXE - PubMed: Audo 2007 - M - - white - 0 - - 1 Johan den Dunnen
+/+ _1_31_ c.0 r.0 p.0 Unknown - pathogenic g.16243989_16317292del - - - ABCC6_000350 del ABCC6 ABCC1 MY11 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Meloni 2001 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Meloni 2001 - - - - - - 0 - - 1 Tim Hefferon
+/+ _1_31_ c.0 r.0 p.0 Unknown - pathogenic g.16243989_16317292del - - - ABCC6_000350 del ABCC6 ABCC1 MYH11 +5 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
+/+ _1_31_ c.0 r.0 p.0 Unknown - pathogenic g.16243989_16317292del - - - ABCC6_000350 del ABCC6 ABCC1 MYH11 +7 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
+/+ _1_31_ c.0 r.0 p.0 Unknown - pathogenic g.16243989_16317292del - - - ABCC6_000350 del ABCC6 ABCC1 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
+/+ 17i c.2248-2_1delAG r.spl p.? Unknown - pathogenic g.16272823_16272824del g.16178966_16178967del IVS17del-2,-1 - ABCC6_000363 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Gheduzzi 2004 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Gheduzzi 2004 - - - - - - 0 - - 1 Tim Hefferon
+/+ 17i c.2416-2_1delAG r.spl p.? Unknown - pathogenic g.16271484_16271485del g.16177627_16177628del IVS18-2delAG - ABCC6_000405 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA BESS - - ? - - - - - - - - 0 - - 1 Tim Hefferon
+/+ 17i c.2248-12_11delTT r.spl p.? Unknown - pathogenic g.16272833_16272834del g.16178976_16178977del IVS17-12delTT - ABCC6_000359 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Hu 2003 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Hu 2003 - - - - - - 0 - - 1 Tim Hefferon
+/. 1i c.36+1G>T r.spl p.? Parent #1 - pathogenic g.16317255C>A g.16223398C>A - - ABCC6_000414 - Legrand, submitted - - Germline - - - 0 - DNA SEQ blood - PXE - Legrand submitted - - - France - - 0 - - 1 Anne Legrand
?/. 1i c.37-1G>A r.(=) p.? Unknown - VUS g.16315689C>T g.16221832C>T - - ABCC6_000221 - - - rs72657702 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.37-1G>A r.spl p.? Unknown - pathogenic g.16315689C>T g.16221832C>T - - ABCC6_000221 - PubMed: Schulz 2006 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Schulz 2006 - - - - - - 0 - - 1 Tim Hefferon
-/. - c.39C>T r.(?) p.(Val13=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>T r.(?) p.(Ala23Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>A r.(?) p.(Leu32=) Unknown - likely benign g.16315629C>T - ABCC6(NM_001171.5):c.96G>A (p.L32=) - ABCC6_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.105del r.(?) p.(Val37Serfs*44) Unknown - VUS g.16315620del g.16221763del - - ABCC6_000001 - - - rs72664223 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.105del r.(?) p.(Val37Serfs*44) Unknown - pathogenic g.16315620del g.16221763del - - ABCC6_000001 corrected from p.(Ser37fs*80) PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - PXE - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
?/? 2 c.105del r.(?) p.(Val37Serfs*44) Parent #2 - VUS g.16315620del g.16221763del - - ABCC6_000001 - - - - Germline - - - 0 - DNA SEQ - - PXE - - - - - - - - 0 - - 1 Tim Hefferon
?/. 2 c.113G>C r.(?) p.(Trp38Ser) Unknown - VUS g.16315612C>G g.16221755C>G - - ABCC6_000002 - - - rs72653752 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.113G>C r.(?) p.(Trp38Ser) Unknown - pathogenic g.16315612C>G g.16221755C>G - - ABCC6_000002 - PubMed: Schulz 2006 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Schulz 2006 - - - - - - 0 - - 1 Tim Hefferon
+/. 2 c.113G>C r.(?) p.(Trp38Ser) Parent #1 - pathogenic g.16315612C>G g.16221755C>G - - ABCC6_000002 - Legrand, submitted - - Germline - - - 0 - DNA SEQ blood - PXE - Legrand submitted - - - France - - 0 - - 1 Anne Legrand
-?/. - c.117A>G r.(?) p.(Val39=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.123dup r.(?) p.(Met42HisfsTer59) Unknown - pathogenic g.16315607dup g.16221750dup ABCC6(NM_001171.5):c.123dupC (p.M42Hfs*59) - ABCC6_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.177_181del r.(?) p.(Arg60Leufs*39) Unknown - pathogenic g.16315546_16315550del g.16221689_16221693del - - ABCC6_000385 - PubMed: Vanakker 2008 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Vanakker 2008 - - - - - - 0 - - 1 Tim Hefferon
?/. 1i c.179-195del r.(=) p.(=) Unknown - VUS g.16315741del g.16221884del - - ABCC6_000338 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs72664224 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.179G>A r.(?) p.(Arg60Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179G>A r.(?) p.(Arg60Gln) Unknown - likely benign g.16315546C>T - ABCC6(NM_001171.5):c.179G>A (p.R60Q) - ABCC6_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 20i c.179_187del r.(?) p.(Arg60_Tyr62del) Parent #1 - VUS g.16315540_16315548del g.16221683_16221691del 177-185del9 - ABCC6_000406 - - - - Germline - - - 0 - DNA SEQ - - PXE - - - - - - - - 0 - - 1 Tim Hefferon
+/+ 2 c.179_187del r.(?) p.(Arg60_Tyr62del) Parent #1 - pathogenic g.16315540_16315548del g.16221683_16221691del 179del9 - ABCC6_000220 - PubMed: Pulkkinen 2001 - rs74315110 Germline yes - - 0 - DNA BESS - - PXE 11702217-Fam1 PubMed: Pulkkinen 2001 3-generation family, 3 affecteds (2F, M), unaffected heterozygous carriers F;M yes United States - - 0 - - 3 Tim Hefferon
+/+ 2 c.179_187del r.(?) p.(Arg60_Tyr62del) Unknown - pathogenic g.16315540_16315548del g.16221683_16221691del 179del12ins3 - ABCC6_000379 - PubMed: Pfendner 2007 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Pfendner 2007 - - - - - - 0 - - 1 Tim Hefferon
?/? 2 c.179_187del r.(?) p.(Arg60_Tyr62del) Parent #2 - VUS g.16315540_16315548del g.16221683_16221691del 179del12insTCC - ABCC6_000379 - - - - Germline - - - 0 - DNA SEQ - - PXE - - - - - - - - 0 - - 1 Tim Hefferon
?/? 2 c.179_187del r.(?) p.(Arg60_Tyr62del) Parent #2 - VUS g.16315540_16315548del g.16221683_16221691del 179del12insTCC - ABCC6_000379 - - - - Germline - - - 0 - DNA SEQ - - PXE - - - - - - - - 0 - - 1 Tim Hefferon
+/+ 2 c.179_195del r.(?) p.(Arg60Leufs*35) Unknown - pathogenic g.16315530_16315546del g.16221673_16221689del - - ABCC6_000352 - PubMed: Le Saux 2001 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Le Saux 2001 - - - - - - 0 - - 1 Tim Hefferon
-/- 2 c.182G>A r.(?) p.(Gly61Asp) Unknown - benign g.16315543C>T g.16221686C>T - - ABCC6_000003 - PubMed: Le Saux 2001 - rs72657696 Germline - - - 0 - DNA BESS - - ? - PubMed: Le Saux 2001 - - - - - - 0 - - 1 Tim Hefferon
?/. 2 c.(191G>A) r.(?) p.(Arg64Gln) Unknown - NA g.16315534C>T g.16221677C>T - - ABCC6_000415 variant co-amplified from ABCC6P1 (scored as heterozygous) PubMed: Pulkkinen 2001 - - Artefact - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.194T>A r.(?) p.(Met65Lys) Unknown - VUS g.16315531A>T - ABCC6(NM_001171.5):c.194T>A (p.M65K) - ABCC6_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.(196dupT) r.(?) p.(Ser66Phefs*35) Unknown - NA g.16315529dupA g.16221672dupA 196insT - ABCC6_000416 variant co-amplified from ABCC6P1 (scored as heterozygous) Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Pulkkinen 2001 - - Artefact - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.220-1G>C r.spl p.? Unknown - VUS g.16313805C>G g.16219948C>G - - ABCC6_000342 - - - rs72664203 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 2i c.220-1G>C r.spl p.? Parent #1 - pathogenic g.16313805C>G g.16219948C>G - - ABCC6_000342 - PubMed: Pfendner 2007 - - Germline - - - 0 - DNA BESS - - PXE - PubMed: Pfendner 2007 - - - - - - 0 - - 1 Tim Hefferon
?/. 3 c.220_222del r.(?) p.(Val74del) Unknown - VUS g.16313803_16313805del g.16219946_16219948del - - ABCC6_000004 - - - rs72664225 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.220_222del r.(?) p.(Val74del) Unknown - pathogenic g.16313803_16313805del g.16219946_16219948del - - ABCC6_000004 - PubMed: Chassaing 2004 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Chassaing 2004 - - - - - - 0 - - 1 Tim Hefferon
?/? 30i c.232G>A r.(?) p.(Ala78Thr) Parent #2 - VUS g.16313792C>T g.16219935C>T - - ABCC6_000408 - - - - Germline - - - 0 - DNA SEQ - - PXE - - - - - - - - 0 - - 1 Tim Hefferon
-?/. 3 c.232G>A r.(?) p.(Ala78Thr) Unknown - likely benign g.16313792C>T g.16219935C>T - - ABCC6_000408 - PubMed: Pulkkinen 2001 - - Germline - - - 0 - DNA SEQ - - ? 11702217-? PubMed: Pulkkinen 2001 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.232G>A r.(?) p.(Ala78Thr) Unknown - likely benign g.16313792C>T - ABCC6(NM_001171.5):c.232G>A (p.A78T) - ABCC6_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.232G>A r.(?) p.(Ala78Thr) Unknown - likely pathogenic g.16313792C>T - c.232G>A - ABCC6_000408 - PubMed: Booij-2011 - rs2856597 Germline - - - 0 - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - 0 - - 1 LOVD
+/. 3 c.280_281insG r.(?) p.(Ile94Serfs*7) Parent #2 - pathogenic g.16313743_16313744insC g.16219886_16219887insC 281insG - ABCC6_000421 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat59 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.302C>G r.(?) p.(Ala101Gly) Unknown - likely benign g.16313722G>C - ABCC6(NM_001171.5):c.302C>G (p.A101G) - ABCC6_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.345+26C>T r.(=) p.(=) Unknown - VUS g.16313653G>A g.16219796G>A - - ABCC6_000222 - - - rs56019914 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 3i c.345+26C>T r.(=) p.(=) Unknown - benign g.16313653G>A g.16219796G>A - - ABCC6_000222 - PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
-/. - c.345+26C>T r.(=) p.(=) Unknown - benign g.16313653G>A g.16219796G>A ABCC6(NM_001171.5):c.345+26C>T - ABCC6_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.346-6G>A r.(=) p.(=) Unknown - VUS g.16313545C>T g.16219688C>T - - ABCC6_000223 - - - rs55778939 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 3i c.346-6G>A r.(=) p.(=) Unknown - benign g.16313545C>T g.16219688C>T - - ABCC6_000223 - PubMed: Le Saux 2001 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Le Saux 2001 - - - - - - 0 - - 1 Tim Hefferon
?/? 3i c.346-6G>A r.(=) p.(=) Unknown - VUS g.16313545C>T g.16219688C>T - - ABCC6_000223 - - - - Germline - - - 0 - DNA BESS - - ? - - - - - - - - 0 - - 1 Tim Hefferon
-?/. 3i c.346-6G>A r.(?) p.(=) Unknown - likely benign g.16313545C>T g.16219688C>T - - ABCC6_000223 - PubMed: Pulkkinen 2001 - - Germline - - - 0 - DNA SEQ - - ? 11702217-? PubMed: Pulkkinen 2001 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.346-6G>A r.(=) p.(=) Unknown - benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-6G>A r.(=) p.(=) Unknown - likely benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-6G>A r.(=) p.(=) Unknown - likely benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.373G>A r.(?) p.(Glu125Lys) Unknown - likely pathogenic g.16313512C>T - c.373G>A - ABCC6_000550 - PubMed: Booij-2011 - rs3853814 Germline - - - 0 - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - 0 - - 1 LOVD
+/+ 4 c.373G>T r.(?) p.(Glu125*) Unknown - pathogenic g.16313512C>A g.16219655C>A - - ABCC6_000368 - PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
?/. 4 c.386G>A r.(?) p.(Gly129Glu) Unknown - VUS g.16313499C>T g.16219642C>T - - ABCC6_000005 - - - rs72653753 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.386G>A r.(?) p.(Gly129Glu) Unknown - pathogenic g.16313499C>T g.16219642C>T - - ABCC6_000005 - PubMed: Miksch 2005 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
?/. 4 c.473C>T r.(?) p.(Ala158Val) Unknown - VUS g.16313412G>A g.16219555G>A - - ABCC6_000006 - - - rs2606921 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.473C>T r.(?) p.(Ala158Val) Unknown - benign g.16313412G>A g.16219555G>A - - ABCC6_000006 - PubMed: Schulz 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Schulz 2005 - - - - - - 0 - - 1 Tim Hefferon
+?/. 1 c.473C>T r.(?) p.(Ala158Val) Unknown - likely pathogenic g.16313412G>A - c.473C>T - ABCC6_000006 - PubMed: Booij-2011 - rs2606921 Germline - - - 0 - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - 0 - - 1 LOVD
?/. 4i c.475-45C>T r.(=) p.(=) Unknown - VUS g.16308351G>A g.16214494G>A - - ABCC6_000224 - - - rs2239319 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4i c.475-45C>T r.(=) p.(=) Unknown - benign g.16308351G>A g.16214494G>A - - ABCC6_000224 - PubMed: Miksch 2005 - - Germline - - - 0 - DNA BESS - - ? - PubMed: Miksch 2005 - - - - - - 0 - - 1 Tim Hefferon
-?/. - c.486C>T r.(?) p.(Ser162=) Unknown - likely benign g.16308295G>A g.16214438G>A - - ABCC6_000523 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Ser169=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.518G>A r.(?) p.(Cys173Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.527T>C r.(?) p.(Leu176Pro) Unknown - likely pathogenic g.16308254A>G - c.527T>C - ABCC6_000549 - PubMed: Booij-2011 - - Germline - - - 0 - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - 0 - - 1 LOVD
?/. 5 c.549G>A r.(?) p.(=) Unknown - VUS g.16308232C>T g.16214375C>T - - ABCC6_000007 - - - rs72664281 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 2 c.549G>A r.(?) p.(Leu183=) Unknown - benign g.16308232C>T g.16214375C>T L183L - ABCC6_000007 - PubMed: Le Saux 2000 - - Germline yes - - 0 - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - 0 - - 1 Tim Hefferon
-/- 2 c.549G>A r.(?) p.(Leu183=) Parent #1 - benign g.16308232C>T g.16214375C>T L183L - ABCC6_000007 - PubMed: Le Saux 2000 - - Germline yes - - 0 - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - 0 - - 1 Tim Hefferon
+/+ 5 c.595C>T r.(?) p.(Gln199*) Unknown - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Yoshida 2005 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Yoshida 2005 - - - - - - 0 - - 1 Tim Hefferon
+/. 5 c.595C>T r.(?) p.(Gln199*) Both (homozygous) - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat57 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.595C>T r.(?) p.(Gln199*) Both (homozygous) - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat58 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.595C>T r.(?) p.(Gln199*) Parent #1 - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat59 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.595C>T r.(?) p.(Gln199*) Parent #1 - pathogenic g.16308186G>A g.16214329G>A - - ABCC6_000361 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat60 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »