Full data view for gene BBS4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_033028.4 transcript reference sequence.

249 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.‐2274_24+930d r.0? p.0? Both (homozygous) ACMG likely pathogenic g.72976295_72979522del g.72683954_72687181del BBS4 c.‐2274_23 + 93 - BBS4_000105 homozygous, error in annotation, should be c.-2274_24+930del, 23 is not an intron boundary PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.041 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.-38C>A r.(?) p.(=) Unknown - benign g.72978531C>A g.72686190C>A - - BBS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17C>T r.(?) p.(=) Unknown - benign g.72978552C>T g.72686211C>T BBS4(NM_033028.4):c.-17C>T - BBS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17C>T r.(?) p.(=) Unknown - benign g.72978552C>T g.72686211C>T BBS4(NM_033028.4):c.-17C>T - BBS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c..(76+1_77-1)_(220+1_221-1)del r.? p.(Pro27_Ala74del) Both (homozygous) ACMG pathogenic (recessive) g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del g.73002041_73004648del - BBS4_000030 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8700050 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.[(157-?)_(405+?)del];[(157-?)_(405+?)del] - IGF1R_000000 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - [p.L114WfsX28] - IGF1R_000000 - PubMed: Imhoff-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - Italian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - M390R/M390R - IGF1R_000000 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - white - - - - 1 LOVD
+?/. - c.? r.(?) p.(Glu136Valfs*27) Both (homozygous) - likely pathogenic g.? - p.Glu136Valfs*27 - IGF1R_000000 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) ACMG likely pathogenic g.72978159_72978592del g.72685818_72686251del BBS4, arr([GRCh37] 15q24.1(72685818-72686251)x0), arr([GRCh37] 15q24.1(72,685,818-72,686,251)x0), homozygous - IGF1R_000000 error in annotation, GRCh37 in this locus has only repetitive elements; BBS4 gene is partially deleted in GRCh38, homozygous PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-1325 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.10G>T r.(?) p.(Glu4Ter) Unknown - likely pathogenic g.72978578G>T g.72686237G>T BBS4(NM_033028.5):c.10G>T (p.E4*) - BBS4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24+8C>T r.(=) p.(=) Unknown - likely benign g.72978600C>T g.72686259C>T BBS4(NM_001252678.1):c.-446+8C>T (p.(=)) - BBS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.24+40C>T r.(=) p.(=) Unknown - likely pathogenic g.72978632C>T - - - BBS4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25-5T>C r.spl? p.? Unknown - pathogenic g.72987513T>C g.72695172T>C - - BBS4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.31C>T r.(?) p.(Gln11*) Maternal (confirmed) ACMG pathogenic g.72987524C>T g.72695183C>T BBS4 c.31C > T, p.Q11* - BBS4_000111 heterozygous PubMed: Meng 2021 - - Germline yes - - - - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F6-II:1 PubMed: Meng 2021 - F no China - - - - - 1 LOVD
+?/. - c.70A>T r.(?) p.(Lys24*) Both (homozygous) - likely pathogenic g.72987563A>T g.72695222A>T BBS4 c.70A>T, p.K24X - BBS4_000118 homozygous; heterozygous proband's father also reported a surgical history of polydactyly removal, but her brother, carrying the same alleles appeared completel PubMed: Li 2014 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood whole exome capture sequencing BBS ? PubMed: Li 2014 Chinese Han family, proband F yes China Chinese Han - - - - 1 LOVD
+/. 2i c.76+1G>T r.spl? p.? Parent #1 - pathogenic (recessive) g.72987570G>T - c.[76+1G>T];[657delG] - BBS4_000114 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ultra sound at 20 gestation weeks M - France - - - - - 1 LOVD
+/. 2i c.76+1G>T r.spl? p.? Parent #1 - pathogenic (recessive) g.72987570G>T - c.[76+1G>T];[657delG] - BBS4_000114 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 22 gestation weeks F - France - - - - - 1 LOVD
-/. - c.76+19G>T r.(=) p.(=) Unknown - benign g.72987588G>T g.72695247G>T BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T - BBS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+19G>T r.(=) p.(=) Unknown - benign g.72987588G>T g.72695247G>T BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T - BBS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+19G>T r.(=) p.(=) Unknown - benign g.72987588G>T g.72695247G>T BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T - BBS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76+2864T>C r.(=) p.(=) Unknown - VUS g.72990433T>C - BBS4(NM_033028.5):c.76+2864T>C - BBS4_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77-5436G>A r.(=) p.(=) Unknown - benign g.72996605G>A g.72704264G>A BBS4(NM_033028.4):c.77-5436G>A - BBS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77-5226A>G r.(=) p.(=) Unknown - benign g.72996815A>G g.72704474A>G BBS4(NM_033028.4):c.77-5226A>G - BBS4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.77-1476_406-309del r.(?) p.(Ala26Glyfs*5) Unknown ACMG pathogenic g.73000565_73014826del - - - BBS4_000058 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.77-1454_221-786del r.(?) p.(Pro27_Ala74del) Both (homozygous) - pathogenic g.73000587_73006846del - del exon3_4 73000565-73006826del - BBS4_000066 6,261 bp deletion, AluSc8 - AluSx PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS 32/3 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
-/. - c.77-6G>A r.(=) p.(=) Unknown - benign g.73002035G>A g.72709694G>A BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A - BBS4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77-6G>A r.(=) p.(=) Unknown - benign g.73002035G>A g.72709694G>A BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A - BBS4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77-6G>A r.(=) p.(=) Parent #1 - likely benign g.73002035G>A - - - BBS4_000008 expression cloning mini-gene splicing assay shows no effect on splicing PubMed: Alvarez-Satta 2017 - - Germline - - - - - DNA SEQ blood - retinal disease RP1032 PubMed: Alvarez-Satta-2014, PubMed: Castro Sanchez 2015 2-generation family, 2 affected (brother/sister) F - Saudi Arabia Arab - - - - 2 LOVD
+/. 2i_4i c.(76+1_77-1)_(220+1_221-1)del r.? p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del - ex 3-4del - BBS4_000030 - Sharon, submitted - - Germline - - - - - DNA SEQ - - BBS - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Italian consanguineous BBS family, described in PubMed: Carmi 1995 M yes - Italian - - - - 1 LOVD
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Italian consanguineous BBS family, described in PubMed: Carmi 1995 F yes - Italian - - - - 1 LOVD
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Italian consanguineous BBS family, described in PubMed: Carmi 1995 M yes - Italian - - - - 1 LOVD
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Italian consanguineous BBS family, described in PubMed: Carmi 1995 M yes - Italian - - - - 1 LOVD
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Israeli Arab consanguineous BBS family M yes Israel Arab - - - - 1 LOVD
+/. 10 c.(76+1_77-1)_(220+1_221-1)del r.(?) p.? Both (homozygous) - pathogenic g.(72987570_73002040)_(73004649_73007631)del g.(72695229_72709699)_(72712308_72715290)del BBS4 exon 3 and 4 6 kb deletion - BBS4_000030 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 Israeli Arab consanguineous BBS family - yes Israel Arab - - - - 1 LOVD
+?/. 3 c.77_156dup r.(?) p.(Ala53Leufs*13) Both (homozygous) - likely pathogenic g.73002041_73002120dup - exon3dup - BBS4_000094 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 3 c.77_156dup r.(?) p.(Ala53Leufs*13) Both (homozygous) - likely pathogenic g.73002041_73002120dup - exon3dup - BBS4_000094 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+?/. 3 c.77_156dup r.(?) p.(Ala53Leufs*13) Both (homozygous) - likely pathogenic g.73002041_73002120dup - exon3dup - BBS4_000094 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+/. 3_4 c.77_220del r.(?) p.(Pro27_Ala74del) Both (homozygous) - pathogenic g.73002041_73004648del - c.77_220del - BBS4_000102 - PubMed: Fattahi 2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Fattahi-2014 - - yes - Fars - - - - 1 LOVD
+?/. - c.129T>G r.(?) p.(Tyr43*) Parent #1 - likely pathogenic g.73002093T>G g.72709752T>G BBS4, variant 1: c.129T>G/p.Y43*, variant 2: c.883C>T/p.R295* - BBS4_000108 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 115 PubMed: Weisschuh 2020 Filing key number: 52, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.129T>G r.(?) p.(Tyr43*) Unknown - pathogenic g.73002093T>G - BBS4(NM_033028.5):c.129T>G (p.(Tyr43*)) - BBS4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137A>G r.(?) p.(Lys46Arg) Unknown - likely benign g.73002101A>G g.72709760A>G BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R) - BBS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137A>G r.(?) p.(Lys46Arg) Unknown - likely benign g.73002101A>G g.72709760A>G BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R) - BBS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137A>G r.(?) p.(Lys46Arg) Parent #1 - VUS g.73002101A>G g.72709760A>G - - BBS4_000009 conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75295839 Germline - 8/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.137A>G r.(?) p.(Lys46Arg) Maternal (confirmed) - VUS g.73002101A>G g.72709760A>G - - BBS4_000009 - PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR634-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
-?/. 3 c.137A>G r.(?) p.(Lys46Arg) Unknown - likely benign (recessive) g.73002101A>G - p.Lys46Arg - BBS4_000009 - PubMed: Anasagasti-2013 - rs75295839 Germline yes <0.01 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. 3 c.137A>G r.(?) p.(Lys46Arg) Both (homozygous) - likely pathogenic g.73002101A>G - c.137A>G - BBS4_000009 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - white - - - - 1 LOVD
?/. 3 c.137A>G r.(?) p.(Lys46Arg) Unknown - VUS g.73002101A>G - [p.N90S] - BBS4_000009 normal 2nd chromosome PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 No principal mutations. M - - Jamaican/Trinidadian - - - - 1 LOVD
-?/. - c.137A>G r.(?) p.(Lys46Arg) Unknown - likely benign g.73002101A>G - BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R) - BBS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.147A>G r.(=) p.(=) Unknown - benign g.73002111A>G - 147A>G - BBS4_000082 - PubMed: Fauser-2003, Mykytyn 2003 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Fauser-2003 - - no - European - - - - 1 LOVD
+?/. 3 c.147A>G r.(=) p.(=) Unknown - likely pathogenic g.73002111A>G - K46R - BBS4_000082 - PubMed: Eichers-2009, Fauser 2003 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Eichers-2009, Fauser 2003 - - - - - - - - - 1 LOVD
-?/. - c.157-19A>G r.(=) p.(=) Unknown - likely benign g.73004566A>G g.72712225A>G BBS4(NM_033028.4):c.157-19A>G - BBS4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.157-3C>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.73004582C>G g.72712241C>G - - BBS4_000056 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_30 PubMed: Makrythanasis 2014 family, 3 affected - yes Iraq - - - - - 3 Johan den Dunnen
+/. 3i c.157-3C>G r.spl? p.? Both (homozygous) - pathogenic g.73004582C>G - IVS3-3c/g - BBS4_000056 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Turkey - - - - - 1 LOVD
+?/. 3i c.157-3C>G r.spl? p.? Parent #2 - likely pathogenic g.73004582C>G - [p.C91LfsX5];[p.V230FfsX7] - BBS4_000056 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - F - - Polish - - - - 1 LOVD
+?/. 3i c.157-3C>G r.spl? p.? Parent #2 - likely pathogenic g.73004582C>G - [p.C91LfsX5];[p.Y559X] - BBS4_000056 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - Irish - - - - 1 LOVD
+?/. - c.157-3C>G r.spl? p.(?) Parent #1 - likely pathogenic g.73004582C>G g.72712241C>G BBS4, variant 1: c.157-3C>G/p.?, variant 2: c.157-3C>G/p.? - BBS4_000056 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 122 PubMed: Weisschuh 2020 Filing key number: 55, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 3i c.157-3C>G r.spl? p.? Parent #1 - pathogenic (recessive) g.73004582C>G - c.[157-3C>G];[157-3C>G] - BBS4_000056 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 26+4 gestation weeks M - France - - - - - 1 LOVD
+/. 3i c.157-3C>G r.spl? p.? Parent #2 - pathogenic (recessive) g.73004582C>G - c.[157-3C>G];[157-3C>G] - BBS4_000056 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 26+4 gestation weeks M - France - - - - - 1 LOVD
+/. - c.157-2A>G r.spl? p.? Both (homozygous) ACMG pathogenic g.73004583A>G g.72712242A>G - - BBS4_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - BBS4 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.157-2A>G r.spl? p.? Unknown - pathogenic g.73004583A>G - BBS4(NM_033028.5):c.157-2A>G - BBS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.157-2A>G r.spl p.? Unknown - likely pathogenic g.73004583A>G g.72712242A>G - - BBS4_000002 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG1032 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - pathogenic g.73004583A>G - IVS3-2a/g - BBS4_000002 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes United Arab Emirates - - - - - 1 LOVD
?/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - VUS g.73004583A>G - c.157-2A>G - BBS4_000002 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - pathogenic g.73004583A>G - c.IVS3-2A>G(H) - BBS4_000002 - PubMed: Janssen-2011 - - Germline - 0.017 - - - DNA SEQ, HD - SEQ or HD retinal disease KK44(A2884)-8 PubMed: Janssen-2011 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.157-2A>G r.spl p.? Both (homozygous) - pathogenic g.73004583A>G g.72712242A>G BBS4 IVS3-2A>G - BBS4_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous PubMed: Katsanis 2002 - - Germline yes 0/108 ethnically matched control chromosomes - - - DNA STR, SEQ blood - BBS KK021 PubMed: Katsanis 2002 family KK021 - - - Saudi Arabian - - - - 1 LOVD
+/. 3i_4i c.157-1_220+1del r.spl? p.? Parent #1 - pathogenic (recessive) g.73004584_73004649del - c.[157-?_220+?del];[157-?_220+?del] - BBS4_000115 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ultra sound at 14 gestation weeks ? - France - - - - - 1 LOVD
+/. 3i_4i c.157-1_220+1del r.spl? p.? Parent #2 - pathogenic (recessive) g.73004584_73004649del - c.[157-?_220+?del];[157-?_220+?del] - BBS4_000115 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ultra sound at 14 gestation weeks ? - France - - - - - 1 LOVD
+/. 3i_4i c.157-1_220+1del r.spl? p.? Parent #1 - pathogenic (recessive) g.73004584_73004649del - c.[157-?_220+?del];[157-?_220+?del] - BBS4_000115 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 20 gestation weeks ? - France - - - - - 1 LOVD
+/. 3i_4i c.157-1_220+1del r.spl? p.? Parent #2 - pathogenic (recessive) g.73004584_73004649del - c.[157-?_220+?del];[157-?_220+?del] - BBS4_000115 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 20 gestation weeks ? - France - - - - - 1 LOVD
+/. 3i_6i c.(156+1_157-1)_(405+1_406-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(73002121_73004584)_(73009192_73015134)del g.(72709780_72712243)_(72716851_72722793)del del ex4-6 - BBS4_000136 - PubMed: Retterer 2016 - - Germline - - - - - DNA arrayCGH - - ? TabS5-var3 PubMed: Retterer 2016 2-generation family, unaffected heterozygous carrier parents; analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 3i_6i c.(?_157-1)_(405+1)del r.spl? p.? Both (homozygous) - pathogenic g.73004584_73009192del - Del exon 4+5+6 - BBS4_000073 - PubMed: Muller-2010 - - Germline - - - - - DNA microsat, SEQ blood - retinal disease - PubMed: Muller-2010 - - - - Algeria - - - - 4 LOVD
+/. 3i_6i c.(?_157-1)_(405+1_?)del r.spl? p.? Both (homozygous) - pathogenic g.73004584_73009192del - Deletion Ex4-5-6 - BBS4_000073 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+?/. 3i_6i c.157-1_405+1del r.spl? p.? Unknown - likely pathogenic g.73004584_73009192del - deletionexons4,5,6 - BBS4_000073 - PubMed: Feuillan-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - - - - 1 LOVD
+/. 3i_6i c.157-1_405+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.73004584_73009192del - DelEx4-5-6 - BBS4_000073 - PubMed: M'hamdi-2014 - - Germline - - - - - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - 1 LOVD
-?/. - c.180A>G r.(?) p.(Gln60=) Unknown - likely benign g.73004608A>G g.72712267A>G BBS4(NM_033028.4):c.180A>G (p.Q60=) - BBS4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180A>G r.(?) p.(Gln60=) Unknown - likely benign g.73004608A>G - BBS4(NM_033028.4):c.180A>G (p.Q60=) - BBS4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.181G>A r.(?) p.(Glu61Lys) Unknown - VUS g.73004609G>A - [E61K]+[=] - BBS4_000095 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - Canadian Native Indian (Dene) - - - - 1 LOVD
?/. 4 c.181G>A r.(?) p.(Glu61Lys) Unknown - VUS g.73004609G>A - [E61K]+[=] - BBS4_000095 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - - - - Canadian Native Indian (Dene) - - - - 1 LOVD
+?/. 4 c.181G>A r.(?) p.(Glu61Lys) Parent #1 - likely pathogenic g.73004609G>A - [p.Q293E];[p.F372XfsX1] - BBS4_000095 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel - - - white - - - - 1 LOVD
+?/. 4 c.181G>A r.(?) p.(Glu61Lys) Maternal (inferred) - likely pathogenic g.73004609G>A - (c.1115_1116delTT; p.Phe372X) - BBS4_000095 - PubMed: Deveault-2011 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - F - - white - - - - 1 LOVD
+?/. 4 c.218A>G r.(?) p.(Gln73Arg) Unknown - likely pathogenic g.73004646A>G - c.218A>G(h) - BBS4_000101 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 2.3% ; absent in 96 controls - - - DNA HD - - retinal disease AR348(A2848)-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - 1 LOVD
+/. 10 c.220+1G>C r.spl p.? Both (homozygous) - pathogenic g.73004649G>C g.72712308G>C BBS4 c.220+1G>C - BBS4_000119 homozygous PubMed: Mykytyn 2001 - - Germline yes - - - - DNA STR, SSCA, SEQ blood - BBS ? PubMed: Mykytyn 2001 - ? yes - European - - - - 1 LOVD
+/. - c.221-1062_406-847del r.(?) p.(Ala74Glyfs*5) Both (homozygous) - pathogenic g.73006570_73014288del - del exon5_6 73006570-73014289del - BBS4_000065 7,719 bp deletion, 1 bp microhomology PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR800-03 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
+/. - c.221-1035_405+2929del r.(?) p.(Ala74Glyfs*5) Both (homozygous) - pathogenic g.73006597_73012120del - del exon5_6 73006584-73012788del - BBS4_000067 6,204 bp deletion, AluSx - AluSg PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR400-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
?/. 4i c.221-37G>A r.(=) p.(=) Unknown - VUS g.73007595G>A - c.221-37G>A - BBS4_000096 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - 1 LOVD
-?/. - c.223T>C r.(?) p.(Leu75=) Unknown - likely benign g.73007634T>C g.72715293T>C BBS4(NM_001252678.1):c.-299T>C (p.(=)) - BBS4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.253G>C r.(?) p.(Glu85Gln) Both (homozygous) - likely pathogenic g.73007664G>C g.72715323G>C BBS4 c.253G>C;p.E85Q - BBS4_000120 homozygous PubMed: Wang 2011 - - Germline yes 0/200 normal matching controls, including 96 from Saudi Arabia - - - DNA arraySNP, SEQ-NG, SEQ blood whole exome capture sequencing retinal disease KKESH205#7 PubMed: Wang 2011 family KKESH205, individual 7 M yes Saudi Arabia Saudi Arabian - - - - 1 LOVD
+?/. - c.253G>C r.(?) p.(Glu85Gln) Both (homozygous) - likely pathogenic g.73007664G>C g.72715323G>C BBS4 c.253G>C;p.E85Q - BBS4_000120 homozygous PubMed: Wang 2011 - - Germline yes 0/200 normal matching controls, including 96 from Saudi Arabia - - - DNA arraySNP, SEQ-NG, SEQ blood whole exome capture sequencing retinal disease KKESH205#3 PubMed: Wang 2011 family KKESH205, individual 3 F yes Saudi Arabia Saudi Arabian - - - - 1 LOVD
+?/. - c.253G>C r.(?) p.(Glu85Gln) Both (homozygous) - likely pathogenic g.73007664G>C g.72715323G>C BBS4 c.253G>C;p.E85Q - BBS4_000120 homozygous PubMed: Wang 2011 - - Germline yes 0/200 normal matching controls, including 96 from Saudi Arabia - - - DNA arraySNP, SEQ-NG, SEQ blood whole exome capture sequencing retinal disease KKESH205#4 PubMed: Wang 2011 family KKESH205, individual 4 M yes Saudi Arabia Saudi Arabian - - - - 1 LOVD
+?/. - c.262del r.(?) p.(Glu88AsnfsTer54) Parent #2 - likely pathogenic g.73007673del g.72715332del - - BBS4_000070 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0398 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
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