Full data view for gene A2LD1

Information The variants shown are described using the NM_001195087.1 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.-10-7214del r.(=) p.(=) Unknown - VUS g.101192069del g.100539815del - - A2LD1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.1A>G r.? p.? Unknown - pathogenic g.101184845T>C - - - A2LD1_000036 - - - - Germline - - - 0 - DNA arrayCGH - - LGMD Pat1 PubMed: De Laurenzi 1996 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents F no Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.*1979G>A r.(=) p.(=) Unknown - likely benign g.101182405C>T g.100530151C>T PCCA(NM_000282.3):c.2172C>T (p.L724=) - A2LD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1979G>A r.(=) p.(=) Unknown - likely benign g.101182405C>T g.100530151C>T PCCA(NM_000282.3):c.2172C>T (p.L724=) - A2LD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16552dup r.(?) p.(=) Unknown - likely benign g.101167832dup - PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT - A2LD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16552dup r.(?) p.(=) Unknown - likely benign g.101167832dup - PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT - A2LD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16571C>T r.(=) p.(=) Unknown - VUS g.101167813G>A - PCCA(NM_000282.3):c.2032G>A (p.G678R) - A2LD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16586C>G r.(=) p.(=) Unknown - likely benign g.101167798G>C g.100515544G>C PCCA(NM_000282.4):c.2017G>C (p.V673L) - A2LD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16608C>T r.(=) p.(=) Unknown - likely benign g.101167776G>A g.100515522G>A PCCA(NM_000282.4):c.1995G>A (p.P665=) - A2LD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16610G>A r.(=) p.(=) Unknown - VUS g.101167774C>T - PCCA(NM_000282.3):c.1993C>T (p.P665S) - A2LD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*16704C>T r.(=) p.(=) Unknown - pathogenic g.101167680G>A g.100515426G>A PCCA(NM_000282.4):c.1900-1G>A - PCCA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*82828T>C r.(=) p.(=) Unknown - likely benign g.101101556A>G g.100449302A>G PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=) - PCCA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*82828T>C r.(=) p.(=) Unknown - VUS g.101101556A>G g.100449302A>G PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=) - PCCA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*82874A>G r.(=) p.(=) Unknown - likely benign g.101101510T>C g.100449256T>C PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro)) - A2LD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*82887C>A r.(=) p.(=) Unknown - benign g.101101497G>T g.100449243G>T PCCA(NM_000282.3):c.1846-9G>T - A2LD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*163544A>G r.(=) p.(=) Unknown - likely benign g.101020840T>C g.100368586T>C PCCA(NM_000282.4):c.1746+12T>C - A2LD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*163651C>A r.(=) p.(=) Unknown - benign g.101020733G>T g.100368479G>T PCCA(NM_000282.3):c.1651G>T (p.V551F) - PCCA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*191956T>A r.(=) p.(=) Unknown - likely benign g.100992428A>T - PCCA(NM_000282.3):c.1558A>T (p.S520C) - A2LD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*201473G>A r.(=) p.(=) Unknown - VUS g.100982911C>T - PCCA(NM_000282.3):c.1526C>T (p.(Pro509Leu)) - A2LD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*201543G>A r.(=) p.(=) Unknown - pathogenic g.100982841C>T g.100330587C>T PCCA(NM_000282.3):c.1456C>T (p.R486*) - PCCA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*222215T>C r.(=) p.(=) Unknown - benign g.100962169A>G g.100309915A>G PCCA(NM_000282.3):c.1429+7A>G - PCCA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*222228T>C r.(=) p.(=) Unknown - likely benign g.100962156A>G g.100309902A>G PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*222228T>C r.(=) p.(=) Unknown - benign g.100962156A>G g.100309902A>G PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*222228T>C r.(=) p.(=) Unknown - likely benign g.100962156A>G g.100309902A>G PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.*222242A>C r.(=) p.(=) Unknown - likely pathogenic g.100962142T>G - PCCA(NM_000282.3):c.1409T>G (p.L470R) - A2LD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*222242A>C r.(=) p.(=) Unknown - pathogenic g.100962142T>G - PCCA(NM_000282.3):c.1409T>G (p.L470R) - A2LD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*224852T>C r.(=) p.(=) Unknown - likely benign g.100959532A>G g.100307278A>G PCCA(NM_000282.3):c.1353+18A>G - PCCA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*224915T>G r.(=) p.(=) Unknown - VUS g.100959469A>C - PCCA(NM_000282.3):c.1308A>C (p.Q436H) - A2LD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*224934C>T r.(=) p.(=) Unknown - VUS g.100959450G>A g.100307196G>A PCCA(NM_000282.4):c.1289G>A (p.R430Q) - PCCA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*224934C>T r.(=) p.(=) Unknown - VUS g.100959450G>A g.100307196G>A PCCA(NM_000282.4):c.1289G>A (p.R430Q) - PCCA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*229116C>T r.(=) p.(=) Unknown - benign g.100955268G>A g.100303014G>A PCCA(NM_000282.3):c.1284+16G>A - A2LD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*229159C>T r.(=) p.(=) Unknown - likely benign g.100955225G>A g.100302971G>A PCCA(NM_000282.4):c.1257G>A (p.Q419=) - A2LD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*229180T>C r.(=) p.(=) Unknown - likely benign g.100955204A>G g.100302950A>G PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=) - PCCA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*229180T>C r.(=) p.(=) Unknown - likely benign g.100955204A>G - PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=) - PCCA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*230522T>C r.(=) p.(=) Unknown - likely benign g.100953862A>G g.100301608A>G PCCA(NM_000282.3):c.1209+5A>G - A2LD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*230568G>A r.(=) p.(=) Unknown - VUS g.100953816C>T g.100301562C>T PCCA(NM_000282.4):c.1168C>T (p.R390C) - A2LD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*230576G>C r.(=) p.(=) Unknown - VUS g.100953808C>G g.100301554C>G - - A2LD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*230582T>C r.(=) p.(=) Unknown - likely benign g.100953802A>G g.100301548A>G PCCA(NM_000282.3):c.1154A>G (p.K385R) - PCCA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.*230598dup r.(?) p.(=) Unknown - likely pathogenic g.100953786dup g.100301532dup - - A2LD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*258779G>A r.(=) p.(=) Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*258779G>A r.(=) p.(=) Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*258779G>A r.(=) p.(=) Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*258812T>C r.(=) p.(=) Unknown - VUS g.100925572A>G - PCCA(NM_000282.4):c.1037A>G (p.Y346C) - A2LD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*258920G>C r.(=) p.(=) Unknown - likely benign g.100925464C>G g.100273210C>G PCCA(NM_000282.3):c.929C>G (p.A310G) - A2LD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*258932dup r.(?) p.(=) Unknown - pathogenic g.100925458dup g.100273204dup PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35) - A2LD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*258932dup r.(?) p.(=) Unknown - pathogenic g.100925458dup g.100273204dup PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35) - A2LD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*263328T>C r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*263328T>C r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*263328T>C r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*263391G>A r.(=) p.(=) Unknown - likely benign g.100920993C>T g.100268739C>T PCCA(NM_000282.4):c.870C>T (p.C290=) - A2LD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*269336T>C r.(=) p.(=) Unknown - likely pathogenic g.100915048A>G g.100262794A>G PCCA(NM_000282.3):c.782A>G (p.E261G) - PCCA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*269376C>T r.(=) p.(=) Unknown - VUS g.100915008G>A g.100262754G>A - - A2LD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*296262T>C r.(=) p.(=) Unknown - benign g.100888122A>G g.100235868A>G PCCA(NM_000282.3):c.627A>G (p.A209=) - PCCA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*296262T>C r.(=) p.(=) Unknown - benign g.100888122A>G g.100235868A>G PCCA(NM_000282.3):c.627A>G (p.A209=) - PCCA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*322741C>T r.(=) p.(=) Unknown - VUS g.100861643G>A g.100209389G>A - - A2LD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*322798C>A r.(=) p.(=) Unknown - likely benign g.100861586G>T - PCCA(NM_000282.3):c.469G>T (p.A157S) - A2LD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*420070G>A r.(=) p.(=) Unknown - VUS g.100764314C>T g.100112060C>T PCCA(NM_000282.3):c.299C>T (p.S100F) - A2LD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*420197_*420200del r.(=) p.(=) Unknown - likely benign g.100764189_100764192del g.100111935_100111938del PCCA(NM_000282.4):c.231+47_231+50delTATT - A2LD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*420271C>T r.(=) p.(=) Unknown - likely benign g.100764113G>A g.100111859G>A PCCA(NM_000282.3):c.202G>A (p.V68I) - PCCA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*420308_*420309del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*420308_*420309del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*420308_*420309del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*442903A>C r.(=) p.(=) Unknown - pathogenic g.100741481T>G - PCCA(NM_000282.3):c.105+2T>G - A2LD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*442968G>A r.(=) p.(=) Unknown - likely benign g.100741416C>T g.100089162C>T PCCA(NM_000282.4):c.42C>T (p.A14=) - A2LD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*442974G>A r.(=) p.(=) Unknown - likely benign g.100741410C>T g.100089156C>T PCCA(NM_000282.3):c.36C>T (p.V12=) - A2LD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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