Full data view for gene BLOC1S1

Information The variants shown are described using the NM_001487.3 transcript reference sequence.

119 entries on 2 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     
+/. 1i_4_ c.(145+1_146-1)_(*909_*1543)del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.(56109981_56110716)_(56114302_56114936)del g.(55716197_55716932)_(55720518_55721152)del del ex2-4 - BLOC1S1_000001 deletion incl, BLOC1S1 ex2-4 and RDH5 ex1 PubMed: De Pace 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamVIIPat1 PubMed: De Pace 2026 2-generation family, 3 affected (sister/twin fetuses), unaffected heterozygous carrier parents F yes - Asia-W 1d - - - 3 Johan den Dunnen
+/. 1i_4_ c.(145+1_146-1)_(*909_*1543)del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.(56109981_56110716)_(56114302_56114936)del g.(55716197_55716932)_(55720518_55721152)del del ex2-4 - BLOC1S1_000001 deletion incl, BLOC1S1 ex2-4 and RDH5 ex1 PubMed: De Pace 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamVIIPat2a PubMed: De Pace 2026 fetus - yes - Asia-W <0d - - - 1 Johan den Dunnen
+/. 1i_4_ c.(145+1_146-1)_(*909_*1543)del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.(56109981_56110716)_(56114302_56114936)del g.(55716197_55716932)_(55720518_55721152)del del ex2-4 - BLOC1S1_000001 deletion incl, BLOC1S1 ex2-4 and RDH5 ex1 PubMed: De Pace 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamVIIPat2b PubMed: De Pace 2026 fetus - yes - Asia-W <0d - - - 1 Johan den Dunnen
-?/. - c.-33996C>T r.(?) p.(=) Unknown - likely benign g.56075840C>T - METTL7B(NM_152637.3):c.302C>T (p.(Pro101Leu)) - ITGA7_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32145T>C r.(?) p.(=) Unknown - likely benign g.56077691T>C - METTL7B(NM_152637.3):c.593T>C (p.(Ile198Thr)) - ITGA7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30964G>A r.(?) p.(=) Unknown - likely benign g.56078872G>A - ITGA7(NM_001144996.1):c.3396C>T (p.(Pro1132=)) - ITGA7_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30848G>A r.(?) p.(=) Unknown - VUS g.56078988G>A - ITGA7(NM_002206.3):c.3268C>T (p.(Gln1090Ter)) - ITGA7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30752C>G r.(?) p.(=) Unknown - benign g.56079084C>G g.55685300C>G ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C - ITGA7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30752C>G r.(?) p.(=) Unknown - benign g.56079084C>G - ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C - ITGA7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30478A>T r.(?) p.(=) Unknown - benign g.56079358A>T - ITGA7(NM_002206.3):c.3184-286T>A - ITGA7_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-29688T>C r.(?) p.(=) Unknown - benign g.56080148T>C - ITGA7(NM_002206.3):c.3184-1076A>G - ITGA7_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-29672T>G r.(?) p.(=) Unknown - benign g.56080164T>G - ITGA7(NM_002206.3):c.3184-1092A>C - ITGA7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28080T>G r.(?) p.(=) Unknown - VUS g.56081756T>G - ITGA7(NM_002206.2):c.3182A>C (p.(Lys1061Thr)) - ITGA7_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-28073G>A r.(?) p.(=) Unknown - likely benign g.56081763G>A - ITGA7(NM_002206.2):c.3175C>T (p.(=)) - ITGA7_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27960G>A r.(?) p.(=) Unknown - VUS g.56081876G>A - - - ITGA7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27865A>G r.(?) p.(=) Unknown - likely benign g.56081971A>G g.55688187A>G ITGA7(NM_001144996.2):c.3069+15T>C - ITGA7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-27833G>A r.(?) p.(=) Unknown - likely pathogenic g.56082003G>A - ITGA7(NM_001144996.1):c.3052C>T (p.(Arg1018Ter)) - ITGA7_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27824A>G r.(?) p.(=) Unknown - likely benign g.56082012A>G - ITGA7(NM_001144996.1):c.3043T>C (p.(Leu1015=)) - ITGA7_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27811G>C r.(?) p.(=) Unknown - likely benign g.56082025G>C g.55688241G>C ITGA7(NM_001144996.1):c.3030C>G (p.(Ser1010=)) - ITGA7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27316del r.(?) p.(=) Unknown - benign g.56082520del - ITGA7(NM_002206.3):c.2958+121delT - ITGA7_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27224C>T r.(?) p.(=) Unknown - likely benign g.56082612C>T g.55688828C>T ITGA7(NM_001144996.1):c.2970+16G>A (p.(=)) - ITGA7_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27155G>A r.(?) p.(=) Unknown - VUS g.56082681G>A g.55688897G>A ITGA7(NM_001144996.1):c.2917C>T (p.R973C) - ITGA7_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-27154dup r.(?) p.(=) Unknown - likely pathogenic g.56082682dup - ITGA7(NM_002206.2):c.2905dup (p.(Arg969ProfsTer153)) - ITGA7_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27051C>G r.(?) p.(=) Unknown - benign g.56082785C>G - ITGA7(NM_002206.3):c.2845-44G>C - ITGA7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22843C>T r.(?) p.(=) Unknown - likely benign g.56086993C>T g.55693209C>T ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys)) - ITGA7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22843C>T r.(?) p.(=) Unknown - likely benign g.56086993C>T - ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys)) - ITGA7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22768C>T r.(?) p.(=) Unknown - likely benign g.56087068C>T g.55693284C>T ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S) - ITGA7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22768C>T r.(?) p.(=) Unknown - likely benign g.56087068C>T g.55693284C>T ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S) - ITGA7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22768C>T r.(?) p.(=) Unknown - likely benign g.56087068C>T - ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S) - ITGA7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22676del r.(?) p.(=) Unknown - benign g.56087160del - ITGA7(NM_002206.3):c.2536-44delA - ITGA7_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21968del r.(?) p.(=) Unknown - pathogenic g.56087868del - ITGA7(NM_001144996.1):c.2484delG (p.R829Gfs*167) - ITGA7_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21967A>G r.(?) p.(=) Unknown - pathogenic g.56087869A>G - ITGA7(NM_001144996.1):c.2483T>C (p.V828A) - ITGA7_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21966C>A r.(?) p.(=) Unknown - VUS g.56087870C>A - ITGA7(NM_001144996.1):c.2482G>T (p.(Val828Leu)) - ITGA7_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21924C>T r.(?) p.(=) Unknown - likely benign g.56087912C>T g.55694128C>T ITGA7(NM_001144996.1):c.2445-5G>A (p.?) - ITGA7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21763C>T r.(?) p.(=) Unknown - likely benign g.56088073C>T - ITGA7(NM_001144996.1):c.2411G>A (p.R804H) - ITGA7_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21619C>T r.(?) p.(=) Unknown - likely benign g.56088217C>T - ITGA7(NM_001144996.1):c.2369+10G>A - ITGA7_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21610C>T r.(?) p.(=) Unknown - pathogenic g.56088226C>T g.55694442C>T - - ITGA7_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21529C>T r.(?) p.(=) Unknown - pathogenic g.56088307C>T g.55694523C>T - - ITGA7_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-21274C>T r.(?) p.(=) Unknown - likely pathogenic g.56088562C>T - ITGA7(NM_002206.2):c.2196G>A (p.(Ala732Ala)) - ITGA7_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21257G>A r.(?) p.(=) Unknown - VUS g.56088579G>A - ITGA7(NM_002206.3):c.2179C>T (p.(Arg727Trp)) - ITGA7_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21233C>T r.(?) p.(=) Unknown - VUS g.56088603C>T - ITGA7(NM_002206.2):c.2155G>A (p.(Asp719Asn)) - ITGA7_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21113G>T r.(?) p.(=) Unknown - likely benign g.56088723G>T g.55694939G>T ITGA7(NM_001144996.1):c.2047C>A (p.(Leu683Met)) - ITGA7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21063C>T r.(?) p.(=) Unknown - benign g.56088773C>T g.55694989C>T ITGA7(NM_001144996.2):c.2016-19G>A - ITGA7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20492A>G r.(?) p.(=) Unknown - likely benign g.56089344A>G g.55695560A>G ITGA7(NM_001144996.1):c.1977T>C (p.(Cys659=)) - ITGA7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-20479C>T r.(?) p.(=) Unknown - benign g.56089357C>T g.55695573C>T ITGA7(NM_001144996.2):c.1964G>A (p.R655H) - ITGA7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19668T>C r.(?) p.(=) Unknown - likely benign g.56090168T>C g.55696384T>C ITGA7(NM_001144996.1):c.1798A>G (p.(Ser600Gly)) - ITGA7_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19647T>G r.(?) p.(=) Unknown - VUS g.56090189T>G g.55696405T>G ITGA7(NM_001144996.1):c.1777A>C (p.(Ile593Leu)) - ITGA7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19075G>C r.(?) p.(=) Unknown - likely benign g.56090761G>C - ITGA7(NM_001144996.2):c.1671C>G (p.P557=) - ITGA7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19049A>T r.(?) p.(=) Unknown - VUS g.56090787A>T - ITGA7(NM_002206.2):c.1633T>A (p.(Phe545Ile)) - ITGA7_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19041C>T r.(?) p.(=) Unknown - VUS g.56090795C>T g.55697011C>T ITGA7(NM_001144996.1):c.1637G>A (p.R546H) - ITGA7_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19026C>T r.(?) p.(=) Unknown - VUS g.56090810C>T g.55697026C>T ITGA7(NM_001144996.1):c.1622G>A (p.(Arg541Gln)) - ITGA7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19025G>A r.(?) p.(=) Unknown - likely benign g.56090811G>A g.55697027G>A ITGA7(NM_001144996.1):c.1621C>T (p.(Arg541Trp)) - ITGA7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18852G>C r.(?) p.(=) Unknown - likely benign g.56090984G>C g.55697200G>C ITGA7(NM_001144996.1):c.1579+16C>G (p.(=)) - ITGA7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18761G>A r.(?) p.(=) Unknown - likely benign g.56091075G>A - ITGA7(NM_001144996.1):c.1518-14C>T (p.(=)) - ITGA7_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18501del r.(?) p.(=) Unknown - likely benign g.56091335del - ITGA7(NM_001144996.1):c.1422-3delC - ITGA7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18265G>A r.(?) p.(=) Unknown - likely benign g.56091571G>A g.55697787G>A ITGA7(NM_001144996.1):c.1329C>T (p.F443=) - ITGA7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18242C>T r.(?) p.(=) Unknown - likely benign g.56091594C>T g.55697810C>T ITGA7(NM_001144996.1):c.1306G>A (p.(Glu436Lys)) - ITGA7_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18219A>G r.(?) p.(=) Unknown - benign g.56091617A>G g.55697833A>G ITGA7(NM_001144996.2):c.1294-11T>C - ITGA7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18127C>T r.(?) p.(=) Unknown - benign g.56091709C>T g.55697925C>T ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=)) - ITGA7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18127C>T r.(?) p.(=) Unknown - likely benign g.56091709C>T - ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=)) - ITGA7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18082T>C r.(?) p.(=) Unknown - VUS g.56091754T>C - - - ITGA7_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17517C>T r.(?) p.(=) Unknown - VUS g.56092319C>T - ITGA7(NM_002206.3):c.1040G>A (p.(Arg347His)) - ITGA7_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17516G>A r.(?) p.(=) Unknown - VUS g.56092320G>A - ITGA7(NM_002206.2):c.1039C>T (p.(Arg347Cys)) - ITGA7_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17472T>C r.(?) p.(=) Unknown - benign g.56092364T>C - ITGA7(NM_002206.3):c.999-4A>G - ITGA7_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17226C>T r.(?) p.(=) Unknown - likely benign g.56092610C>T g.55698826C>T ITGA7(NM_001144996.1):c.894G>A (p.(Val298=)) - ITGA7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17168C>T r.(?) p.(=) Unknown - likely benign g.56092668C>T g.55698884C>T ITGA7(NM_001144996.1):c.836G>A (p.(Arg279His)) - ITGA7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16063C>G r.(?) p.(=) Unknown - likely benign g.56093773C>G - ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala)) - ITGA7_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16063C>G r.(?) p.(=) Unknown - VUS g.56093773C>G - ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala)) - ITGA7_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16058G>A r.(?) p.(=) Unknown - likely benign g.56093778G>A - ITGA7(NM_002206.2):c.671-5C>T (p.?) - ITGA7_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15758C>T r.(?) p.(=) Unknown - VUS g.56094078C>T - ITGA7(NM_001144996.2):c.770G>A (p.(Arg257His)) - ITGA7_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15697C>A r.(?) p.(=) Unknown - likely benign g.56094139C>A g.55700355C>A ITGA7(NM_001144996.1):c.709G>T (p.(Asp237Tyr)) - ITGA7_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15020C>T r.(?) p.(=) Unknown - likely benign g.56094816C>T g.55701032C>T ITGA7(NM_001144996.1):c.537G>A (p.(Gly179=)) - ITGA7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14942G>C r.(?) p.(=) Unknown - likely benign g.56094894G>C - ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M) - ITGA7_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14942G>C r.(?) p.(=) Unknown - likely benign g.56094894G>C - ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M) - ITGA7_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-14928G>A r.(?) p.(=) Unknown - pathogenic g.56094908G>A - ITGA7(NM_002206.2):c.445C>T (p.(Arg149*)) - ITGA7_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14910G>A r.(?) p.(=) Unknown - VUS g.56094926G>A - ITGA7(NM_001144996.1):c.427C>T (p.R143*) - ITGA7_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14888G>A r.(?) p.(=) Unknown - benign g.56094948G>A - ITGA7(NM_002206.3):c.415-10C>T - ITGA7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14671C>A r.(?) p.(=) Unknown - VUS g.56095165C>A - ITGA7(NM_001144997.1):c.121G>T (p.(Glu41*)) - ITGA7_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14454del r.(?) p.(=) Unknown - benign g.56095382del - ITGA7(NM_002206.3):c.415-430delA - ITGA7_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13170C>A r.(?) p.(=) Unknown - VUS g.56096666C>A - ITGA7(NM_001144996.1):c.404G>T (p.(Gly135Val)) - ITGA7_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13020T>C r.(?) p.(=) Unknown - benign g.56096816T>C g.55703032T>C ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G - ITGA7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13020T>C r.(?) p.(=) Unknown - benign g.56096816T>C - ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G - ITGA7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12978T>A r.(?) p.(=) Unknown - likely benign g.56096858T>A g.55703074T>A ITGA7(NM_001144996.1):c.311A>T (p.Y104F) - ITGA7_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12952C>A r.(?) p.(=) Unknown - likely benign g.56096884C>A g.55703100C>A ITGA7(NM_001144996.1):c.285G>T (p.(Pro95=)) - ITGA7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12811A>C r.(?) p.(=) Unknown - benign g.56097025A>C - ITGA7(NM_002206.3):c.207-63T>G - ITGA7_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8755G>C r.(?) p.(=) Unknown - benign g.56101081G>C - ITGA7(NM_002206.3):c.206+180C>G - ITGA7_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8577A>T r.(?) p.(=) Unknown - VUS g.56101259A>T - ITGA7(NM_001144996.2):c.206+2T>A - ITGA7_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8418A>G r.(?) p.(=) Unknown - VUS g.56101418A>G - ITGA7(NM_002206.3):c.49T>C (p.(Tyr17His)) - ITGA7_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8415A>C r.(?) p.(=) Unknown - likely benign g.56101421A>C - ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G) - ITGA7_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8415A>C r.(?) p.(=) Unknown - likely benign g.56101421A>C - ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G) - ITGA7_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-8398dup r.(?) p.(=) Unknown - likely pathogenic g.56101438dup - ITGA7(NM_001144996.1):c.34dup (p.(Ala12Glyfs*91)) - ITGA7_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3942G>A r.(?) p.(=) Unknown - benign g.56105894G>A g.55712110G>A ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I) - ITGA7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3942G>A r.(?) p.(=) Unknown - likely benign g.56105894G>A g.55712110G>A ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I) - ITGA7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3904A>C r.(?) p.(=) Unknown - likely benign g.56105932A>C g.55712148A>C ITGA7(NM_001144997.1):c.14-14T>G (p.(=)) - ITGA7_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.185T>C r.(?) p.(Leu62Pro) Both (homozygous) - pathogenic (recessive) g.56110756T>C g.55716972T>C - - BLOC1S1_000002 - PubMed: De Pace 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamIIIPat1 PubMed: De Pace 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Europe-S - - - - 1 Johan den Dunnen
+/. - c.206A>C r.(?) p.(His69Pro) Maternal (confirmed) - pathogenic (recessive) g.56110777A>C g.55716993A>C - - BLOC1S1_000003 - PubMed: De Pace 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamIPat1 PubMed: De Pace 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Europe-N - - - - 1 Johan den Dunnen
+/. - c.218+3A>G r.(?) p.? Both (homozygous) - pathogenic (recessive) g.56110792A>G g.55717008A>G - - BLOC1S1_000004 - PubMed: De Pace 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamIVPat1 PubMed: De Pace 2026 2-generation family, 3 affected (deceased 2 brothers/sister,) unaffected heterozygous carrier parents F yes - Asia-W 5m - - - 3 Johan den Dunnen
+/. - c.284C>A r.(?) p.(Ala95Asp) Both (homozygous) - pathogenic (recessive) g.56112940C>A g.55719156C>A - - BLOC1S1_000005 - PubMed: De Pace 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamIIPat1 PubMed: De Pace 2026 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes - Middle-East - - - - 2 Johan den Dunnen
+/. - c.284C>A r.(?) p.(Ala95Asp) Both (homozygous) - pathogenic (recessive) g.56112940C>A g.55719156C>A - - BLOC1S1_000005 - PubMed: De Pace 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamIIPat2 PubMed: De Pace 2026 sister F yes - Middle-East - - - - 1 Johan den Dunnen
+/. - c.284C>A r.(?) p.(Ala95Asp) Both (homozygous) - pathogenic (recessive) g.56112940C>A g.55719156C>A - - BLOC1S1_000005 - PubMed: De Pace 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamVPat1 PubMed: De Pace 2026 2-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents F yes - Middle-East - - - - 2 Johan den Dunnen
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