Full data view for gene LAMA5

Information The variants shown are described using the NM_005560.4 transcript reference sequence.

213 entries on 3 pages. Showing entries 1 - 100.
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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.? r.(?) p.(Gly3067Alafs*40) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K144 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Pro1082Leu) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K201 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - 2 Johan den Dunnen
?/. - c.? r.(?) p.(Leu1930Pro) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K93 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.125G>A r.(?) p.(Gly42Asp) Unknown - likely benign g.60942177C>T - LAMA5(NM_005560.4):c.125G>A (p.(Gly42Asp)) - LAMA5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>T r.(?) p.(Thr124Met) Unknown - VUS g.60937535G>A - LAMA5(NM_005560.4):c.371C>T (p.T124M) - LAMA5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403C>T r.(?) p.(Arg135Cys) Unknown - VUS g.60937503G>A - LAMA5(NM_005560.4):c.403C>T (p.R135C) - LAMA5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418A>C r.(?) p.(Asn140His) Unknown - VUS g.60937488T>G g.62362432T>G LAMA5(NM_005560.4):c.418A>C (p.N140H) - LAMA5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450+18C>T r.(=) p.(=) Unknown - likely benign g.60937438G>A - LAMA5(NM_005560.4):c.450+18C>T - LAMA5_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535G>A r.(?) p.(Gly179Ser) Unknown - VUS g.60928223C>T - LAMA5(NM_005560.6):c.535G>A (p.(Gly179Ser)) - LAMA5_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617G>A r.(?) p.(Arg206His) Unknown - VUS g.60927368C>T g.62352312C>T LAMA5(NM_005560.4):c.617G>A (p.R206H), LAMA5(NM_005560.6):c.617G>A (p.(Arg206His)) - LAMA5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617G>A r.(?) p.(Arg206His) Unknown - VUS g.60927368C>T - LAMA5(NM_005560.4):c.617G>A (p.R206H), LAMA5(NM_005560.6):c.617G>A (p.(Arg206His)) - LAMA5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.638C>T r.(?) p.(Ala213Val) Unknown - benign g.60927347G>A - LAMA5(NM_005560.4):c.638C>T (p.A213V) - LAMA5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740C>T r.(?) p.(Ser247Leu) Unknown - VUS g.60927083G>A - LAMA5(NM_005560.4):c.740C>T (p.(Ser247Leu)) - LAMA5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743C>T r.(?) p.(Pro248Leu) Unknown - VUS g.60927080G>A - LAMA5(NM_005560.4):c.743C>T (p.(Pro248Leu)) - LAMA5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812G>A r.(?) p.(Gly271Asp) Unknown - VUS g.60927011C>T - LAMA5(NM_005560.6):c.812G>A (p.(Gly271Asp)) - LAMA5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888C>T r.(?) p.(=) Unknown - benign g.60926828G>A - LAMA5(NM_005560.6):c.888C>T (p.(Ile296=)) - LAMA5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.950C>T r.(?) p.(Pro317Leu) Unknown - likely benign g.60926766G>A - LAMA5(NM_005560.4):c.950C>T (p.(Pro317Leu)) - LAMA5_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003C>T r.(?) p.(Arg335Cys) Unknown - VUS g.60922038G>A g.62346982G>A LAMA5(NM_005560.4):c.1003C>T (p.R335C) - LAMA5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1132C>T r.(?) p.(Arg378Cys) Unknown - VUS g.60921797G>A - LAMA5(NM_005560.3):c.1132C>T (p.(Arg378Cys)) - LAMA5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134C>T r.(?) p.(=) Unknown - likely benign g.60921795G>A - LAMA5(NM_005560.4):c.1134C>T (p.R378=) - LAMA5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>T r.(?) p.(=) Unknown - likely benign g.60921255G>A - LAMA5(NM_005560.4):c.1299C>T (p.S433=) - LAMA5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(=) Unknown - likely benign g.60920908G>A - LAMA5(NM_005560.6):c.1443C>T (p.(Thr481=)) - LAMA5_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1478-4C>G r.spl? p.? Unknown - benign g.60913668G>C - LAMA5(NM_005560.4):c.1478-4C>G - LAMA5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1754A>G r.(?) p.(Gln585Arg) Unknown - VUS g.60913290T>C - LAMA5(NM_005560.3):c.1754A>G (p.(Gln585Arg)) - LAMA5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1891+8G>A r.(=) p.(=) Unknown - likely benign g.60913064C>T - LAMA5(NM_005560.4):c.1891+8G>A - LAMA5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-15A>G r.(=) p.(=) Unknown - likely benign g.60913009T>C - LAMA5(NM_005560.4):c.1892-15A>G - LAMA5_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-8C>T r.(=) p.(=) Unknown - likely benign g.60913002G>A g.62337946G>A LAMA5(NM_005560.3):c.1892-8C>T (p.(=)), LAMA5(NM_005560.4):c.1892-8C>T - LAMA5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-8C>T r.(=) p.(=) Unknown - likely benign g.60913002G>A - LAMA5(NM_005560.3):c.1892-8C>T (p.(=)), LAMA5(NM_005560.4):c.1892-8C>T - LAMA5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2049C>G r.(?) p.(Gly683=) Unknown - benign g.60912761G>C - LAMA5(NM_005560.4):c.2049C>G (p.G683=) - LAMA5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2126C>T r.(?) p.(Thr709Ile) Unknown - likely benign g.60912684G>A - LAMA5(NM_005560.4):c.2126C>T (p.T709I), LAMA5(NM_005560.6):c.2126C>T (p.(Thr709Ile)) - LAMA5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2126C>T r.(?) p.(Thr709Ile) Unknown - likely benign g.60912684G>A - LAMA5(NM_005560.4):c.2126C>T (p.T709I), LAMA5(NM_005560.6):c.2126C>T (p.(Thr709Ile)) - LAMA5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2285T>G r.(?) p.(Phe762Cys) Unknown - likely benign g.60911434A>C - LAMA5(NM_005560.4):c.2285T>G (p.F762C), LAMA5(NM_005560.6):c.2285T>G (p.(Phe762Cys)) - LAMA5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2285T>G r.(?) p.(Phe762Cys) Unknown - likely benign g.60911434A>C - LAMA5(NM_005560.4):c.2285T>G (p.F762C), LAMA5(NM_005560.6):c.2285T>G (p.(Phe762Cys)) - LAMA5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2321C>T r.(?) p.(Thr774Ile) Unknown - likely benign g.60911398G>A - LAMA5(NM_005560.4):c.2321C>T (p.(Thr774Ile), p.T774I) - LAMA5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2321C>T r.(?) p.(Thr774Ile) Unknown - likely benign g.60911398G>A - LAMA5(NM_005560.4):c.2321C>T (p.(Thr774Ile), p.T774I) - LAMA5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2323C>T r.(?) p.(Arg775Cys) Both (homozygous) - likely benign g.60911396G>A g.62336340G>A - - LAMA5_000131 no phenotypic match in homozygous patient (kidney disease) PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII1 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil Minas Gerais - - - - 1 Johan den Dunnen
?/. - c.2375C>T r.(?) p.(Pro792Leu) Unknown - VUS g.60910274G>A - LAMA5(NM_005560.6):c.2375C>T (p.P792L) - LAMA5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2382C>T r.(?) p.(Thr794=) Unknown - likely benign g.60910177G>A - LAMA5(NM_005560.4):c.2382C>T (p.T794=), LAMA5(NM_005560.6):c.2382C>T (p.(Thr794=)) - LAMA5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2382C>T r.(?) p.(Thr794=) Unknown - likely benign g.60910177G>A - LAMA5(NM_005560.4):c.2382C>T (p.T794=), LAMA5(NM_005560.6):c.2382C>T (p.(Thr794=)) - LAMA5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2389_2418dup r.(?) p.(Cys797_Gln806dup) Unknown - VUS g.60910148_60910177dup - LAMA5(NM_005560.3):c.2389_2418dup (p.(Cys797_Gln806dup)) - LAMA5_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2412C>T r.(?) p.(=) Unknown - likely benign g.60910147G>A - LAMA5(NM_005560.4):c.2412C>T (p.C804=) - LAMA5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2435A>C r.(?) p.(Lys812Thr) Unknown - benign g.60910124T>G - LAMA5(NM_005560.6):c.2435A>C (p.(Lys812Thr)) - LAMA5_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2588C>T r.(?) p.(Ala863Val) Unknown - likely benign g.60909393G>A - LAMA5(NM_005560.4):c.2588C>T (p.A863V) - LAMA5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2719G>A r.(?) p.(Ala907Thr) Unknown - VUS g.60909262C>T - LAMA5(NM_005560.4):c.2719G>A (p.(Ala907Thr)) - LAMA5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2735T>G r.(?) p.(Val912Gly) Unknown - VUS g.60909246A>C - LAMA5(NM_005560.4):c.2735T>G (p.(Val912Gly)) - LAMA5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2740-17G>C r.(=) p.(=) Unknown - likely benign g.60909112C>G - LAMA5(NM_005560.4):c.2740-17G>C - LAMA5_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2829C>T r.(?) p.(=) Unknown - VUS g.60909006G>A - LAMA5(NM_005560.6):c.2829C>T (p.(Ser943=)) - LAMA5_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2919G>A r.(?) p.(=) Unknown - likely benign g.60908722C>T - LAMA5(NM_005560.6):c.2919G>A (p.(Thr973=)) - LAMA5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3027C>T r.(?) p.(Tyr1009=) Unknown - likely benign g.60908532G>A - LAMA5(NM_005560.4):c.3027C>T (p.Y1009=) - LAMA5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3062C>T r.(?) p.(Ala1021Val) Unknown - likely benign g.60908497G>A - LAMA5(NM_005560.4):c.3062C>T (p.A1021V) - LAMA5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3066C>T r.(?) p.(Leu1022=) Unknown - likely benign g.60908493G>A - LAMA5(NM_005560.4):c.3066C>T (p.L1022=) - LAMA5_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3129-3C>A r.spl? p.? Unknown - likely benign g.60908302G>T - LAMA5(NM_005560.4):c.3129-3C>A (p.?) - LAMA5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3231G>A r.(?) p.(Thr1077=) Unknown - VUS g.60908197C>T - LAMA5(NM_005560.6):c.3231G>A (p.T1077=) - LAMA5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3265A>T r.(?) p.(Thr1089Ser) Unknown - likely benign g.60908163T>A - LAMA5(NM_005560.6):c.3265A>T (p.(Thr1089Ser)) - LAMA5_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3283-8C>G r.(=) p.(=) Unknown - benign g.60907781G>C - LAMA5(NM_005560.4):c.3283-8C>G - LAMA5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3295C>T r.(?) p.(Leu1099Phe) Unknown - likely benign g.60907761G>A - LAMA5(NM_005560.4):c.3295C>T (p.(Leu1099Phe)) - LAMA5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3376G>A r.(?) p.(Val1126Met) Unknown - VUS g.60907680C>T - LAMA5(NM_005560.4):c.3376G>A (p.(Val1126Met)) - LAMA5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3444-5del r.spl? p.? Unknown - likely benign g.60907546del - LAMA5(NM_005560.4):c.3444-5delC, LAMA5(NM_005560.6):c.3444-5del - LAMA5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3444-5del r.spl? p.? Unknown - likely benign g.60907546del - LAMA5(NM_005560.4):c.3444-5delC, LAMA5(NM_005560.6):c.3444-5del - LAMA5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3606C>G r.(?) p.(Pro1202=) Unknown - likely benign g.60906132G>C g.62331076G>C LAMA5(NM_005560.4):c.3606C>G (p.P1202=) - LAMA5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3633C>T r.(?) p.(Gly1211=) Unknown - likely benign g.60906105G>A g.62331049G>A LAMA5(NM_005560.4):c.3633C>T (p.G1211=) - LAMA5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3815A>G r.(?) p.(Asp1272Gly) Unknown - VUS g.60905836T>C - LAMA5(NM_005560.4):c.3815A>G (p.D1272G) - LAMA5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3885G>A r.(?) p.(Thr1295=) Unknown - likely benign g.60905638C>T - LAMA5(NM_005560.4):c.3885G>A (p.T1295=) - LAMA5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3963C>T r.(?) p.(Ala1321=) Unknown - likely benign g.60905560G>A g.62330504G>A LAMA5(NM_005560.4):c.3963C>T (p.A1321=) - LAMA5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3964G>A r.(?) p.(Gly1322Ser) Unknown - VUS g.60905559C>T g.62330503C>T LAMA5(NM_005560.4):c.3964G>A (p.G1322S) - LAMA5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3979+16G>T r.(=) p.(=) Unknown - likely benign g.60905528C>A - LAMA5(NM_005560.4):c.3979+16G>T - LAMA5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4072G>A r.(?) p.(Glu1358Lys) Unknown - VUS g.60904880C>T - LAMA5(NM_005560.6):c.4072G>A (p.(Glu1358Lys)) - LAMA5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4465C>T r.(?) p.(Arg1489Cys) Unknown - VUS g.60903484G>A - LAMA5(NM_005560.3):c.4465C>T (p.(Arg1489Cys)) - LAMA5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4595G>A r.(?) p.(Gly1532Glu) Unknown - likely benign g.60903354C>T - LAMA5(NM_005560.4):c.4595G>A (p.(Gly1532Glu)) - LAMA5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4599C>T r.(?) p.(Pro1533=) Unknown - likely benign g.60903350G>A - LAMA5(NM_005560.4):c.4599C>T (p.P1533=) - LAMA5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4675C>T r.(?) p.(Arg1559Cys) Unknown - VUS g.60903044G>A - LAMA5(NM_005560.6):c.4675C>T (p.R1559C) - LAMA5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4697C>T r.(?) p.(Pro1566Leu) Unknown - VUS g.60903022G>A - LAMA5(NM_005560.6):c.4697C>T (p.(Pro1566Leu)) - LAMA5_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4713C>T r.(?) p.(Tyr1571=) Unknown - likely benign g.60903006G>A - LAMA5(NM_005560.4):c.4713C>T (p.Y1571=) - LAMA5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4724G>A r.(?) p.(Arg1575His) Unknown - likely benign g.60902995C>T - LAMA5(NM_005560.4):c.4724G>A (p.(Arg1575His)) - LAMA5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4754C>T r.(?) p.(Ala1585Val) Unknown - likely benign g.60902965G>A - LAMA5(NM_005560.6):c.4754C>T (p.(Ala1585Val)) - LAMA5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4757C>T r.(?) p.(Pro1586Leu) Unknown - likely benign g.60902962G>A - LAMA5(NM_005560.4):c.4757C>T (p.P1586L) - LAMA5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4879C>T r.(?) p.(Arg1627Cys) Unknown - VUS g.60902644G>A g.62327588G>A LAMA5(NM_005560.4):c.4879C>T (p.R1627C) - LAMA5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4913G>A r.(?) p.(Arg1638Gln) Unknown - likely benign g.60902610C>T g.62327554C>T LAMA5(NM_005560.4):c.4913G>A (p.R1638Q) - LAMA5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4939-15C>T r.(=) p.(=) Unknown - likely benign g.60902477G>A - LAMA5(NM_005560.4):c.4939-15C>T - LAMA5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4999C>T r.(?) p.(Arg1667Trp) Unknown - likely benign g.60902402G>A - LAMA5(NM_005560.3):c.4999C>T (p.(Arg1667Trp)) - LAMA5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5035C>T r.(?) p.(Arg1679Trp) Unknown - likely benign g.60902366G>A - LAMA5(NM_005560.3):c.5035C>T (p.(Arg1679Trp)) - LAMA5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5070C>T r.(?) p.(Pro1690=) Unknown - likely benign g.60902331G>A - LAMA5(NM_005560.4):c.5070C>T (p.P1690=) - LAMA5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5124C>T r.(?) p.(=) Unknown - benign g.60902011G>A - LAMA5(NM_005560.6):c.5124C>T (p.(Tyr1708=)) - LAMA5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5269G>A r.(?) p.(Val1757Ile) Unknown - likely benign g.60901762C>T - LAMA5(NM_005560.3):c.5269G>A (p.(Val1757Ile)) - LAMA5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5309G>A r.(?) p.(Arg1770Gln) Unknown - VUS g.60900592C>T - LAMA5(NM_005560.6):c.5309G>A (p.(Arg1770Gln)) - LAMA5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5513G>A r.(?) p.(Arg1838Gln) Unknown - likely benign g.60900388C>T - LAMA5(NM_005560.4):c.5513G>A (p.R1838Q) - LAMA5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5530-13C>T r.(=) p.(=) Unknown - likely benign g.60899623G>A - LAMA5(NM_005560.4):c.5530-13C>T - LAMA5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5627G>T r.(?) p.(Gly1876Val) Unknown - likely benign g.60899513C>A g.62324457C>A LAMA5(NM_005560.6):c.5627G>T (p.(Gly1876Val)) - LAMA5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5634C>T r.(?) p.(Gly1878=) Unknown - likely benign g.60899506G>A - LAMA5(NM_005560.4):c.5634C>T (p.G1878=) - LAMA5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5681_5736del r.(?) p.(Arg1894Leufs*64) Unknown - pathogenic g.60899171_60899226del - LAMA5(NM_005560.4):c.5681_5736del (p.R1894Lfs*64) - LAMA5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5708G>A r.(?) p.(Arg1903Lys) Unknown - likely benign g.60899196C>T - LAMA5(NM_005560.6):c.5708G>A (p.(Arg1903Lys)) - LAMA5_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5709G>A r.(?) p.(Arg1903=) Unknown - benign g.60899195C>T - LAMA5(NM_005560.4):c.5709G>A (p.R1903=) - LAMA5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5713G>A r.(?) p.(Asp1905Asn) Unknown - likely benign g.60899191C>T - LAMA5(NM_005560.6):c.5713G>A (p.(Asp1905Asn)) - LAMA5_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5768+18C>T r.(=) p.(=) Unknown - likely benign g.60899118G>A - LAMA5(NM_005560.4):c.5768+18C>T - LAMA5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5856G>A r.(?) p.(=) Unknown - benign g.60898720C>T - LAMA5(NM_005560.6):c.5856G>A (p.(Ala1952=)) - LAMA5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5907C>T r.(?) p.(=) Unknown - likely benign g.60898669G>A - LAMA5(NM_005560.4):c.5907C>T (p.C1969=) - LAMA5_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5922C>G r.(?) p.(Asn1974Lys) Unknown - VUS g.60898654G>C g.62323598G>C LAMA5(NM_005560.4):c.5922C>G (p.N1974K) - LAMA5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5922C>T r.(?) p.(=) Unknown - likely benign g.60898654G>A - LAMA5(NM_005560.6):c.5922C>T (p.(Asn1974=)) - LAMA5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6083G>A r.(?) p.(Cys2028Tyr) Unknown - VUS g.60897796C>T - LAMA5(NM_005560.6):c.6083G>A (p.(Cys2028Tyr)) - LAMA5_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6101A>G r.(?) p.(Asp2034Gly) Unknown - VUS g.60897778T>C - LAMA5(NM_005560.3):c.6101A>G (p.(Asp2034Gly)) - LAMA5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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