Full data view for gene SEMA4A

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

116 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     
?/. - c.20G>A r.(?) p.(Gly7Asp) Unknown - VUS g.156124389G>A g.156154598G>A SEMA4A(NM_022367.4):c.20G>A (p.G7D) - SEMA4A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38T>C r.(?) p.(Leu13Pro) Unknown - VUS g.156124407T>C g.156154616T>C - - SEMA4A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.39C>A r.(?) p.(=) Unknown - likely benign g.156124408C>A g.156154617C>A CTC>CTA (L13L) - SEMA4A_000004 - PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - Healthy/Control - - - ? ? Pakistan - - - - - 6 Raheel Qamar
?/. - c.140-3C>G r.spl? p.? Unknown - VUS g.156126202C>G - SEMA4A(NM_001193300.1):c.140-3C>G - SEMA4A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.241C>T r.(?) p.(Arg81*) Both (homozygous) - likely pathogenic (recessive) g.156126306C>T g.156156515C>T - - SEMA4A_000050 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC07563 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.245A>G r.(?) p.(Glu82Gly) Unknown - likely pathogenic g.77334288C>T g.77300391C>T c.2546G>A; p.Gly849Asp - SEMA4A_000001 Known high myopia gene; heterozygous variant PubMed: Wan 2018 - - Unknown ? - - - - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0012 PubMed: Wan 2018 - ? - China Han Chinese - - - - 1 LOVD
?/. - c.247G>C r.(?) p.(Ala83Pro) Unknown - VUS g.156126312G>C g.156156521G>C SEMA4A(NM_022367.4):c.247G>C (p.A83P) - SEMA4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274C>T r.(?) p.(Pro92Ser) Unknown - VUS g.156126339C>T g.156156548C>T - - SEMA4A_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.300G>A r.(?) p.(Met100Ile) Unknown - likely pathogenic g.156126365G>A g.156156574G>A SEMA4A(NM_001193302.1):c.3G>A (p.M1?) - SEMA4A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300+3G>A r.spl? p.? Unknown - likely benign g.156126368G>A - SEMA4A(NM_001193300.1):c.300+3G>A, SEMA4A(NM_001370571.1):c.-225+3G>A - SEMA4A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300+3G>A r.spl? p.? Unknown - likely benign g.156126368G>A - SEMA4A(NM_001193300.1):c.300+3G>A, SEMA4A(NM_001370571.1):c.-225+3G>A - SEMA4A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301-11_301-7del r.(=) p.(=) Unknown - likely benign g.156127850_156127854del g.156158059_156158063del SEMA4A(NM_022367.4):c.301-11_301-7delCCCAC - SEMA4A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.302T>C r.(?) p.(Ile101Thr) Parent #1 - likely pathogenic (dominant) g.156127862T>C g.156158071T>C - - SEMA4A_000051 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs149652495 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC05563 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
?/. - c.369G>C r.(?) p.(Gln123His) Unknown - VUS g.156128184G>C g.156158393G>C SEMA4A(NM_022367.4):c.369G>C (p.Q123H) - SEMA4A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.405T>C r.(?) p.(Asn135=) Unknown - VUS g.156128220T>C g.156158429T>C - - SEMA4A_000056 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat15 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
-/. - c.435C>T r.(?) p.(Phe145=) Unknown - benign g.156128250C>T g.156158459C>T SEMA4A(NM_022367.4):c.435C>T (p.F145=) - SEMA4A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.463-17C>A r.(spl?) p.(?) Parent #1 - VUS g.156128493C>A g.156158702C>A - - SEMA4A_000003 predicted unknown, disease-related variants in other gene PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. - c.473A>G r.(?) p.(Asp158Gly) Unknown - VUS g.156128520A>G - SEMA4A(NM_001193300.1):c.473A>G (p.D158G) - SEMA4A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Ile164=) Unknown - likely benign g.156128539C>T g.156158748C>T SEMA4A(NM_022367.4):c.492C>T (p.I164=) - SEMA4A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Ser165Leu) Unknown - likely benign g.156128541C>T g.156158750C>T SEMA4A(NM_022367.4):c.494C>T (p.S165L) - SEMA4A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494C>T r.(?) p.(Ser165Leu) Unknown - VUS g.156128541C>T g.156158750C>T - - SEMA4A_000014 - PubMed: Xu 2014 - rs201943133 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP301 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.592A>G r.(?) p.(Met198Val) Unknown - likely benign g.156130257A>G g.156160466A>G SEMA4A(NM_022367.4):c.592A>G (p.M198V) - SEMA4A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.615G>A r.(?) p.(Glu205=) Unknown - benign g.156130280G>A g.156160489G>A SEMA4A(NM_022367.4):c.615G>A (p.E205=) - SEMA4A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686-5C>T r.spl? p.? Unknown - VUS g.156130691C>T g.156160900C>T - - SEMA4A_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199654825 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.686-5C>T r.spl? p.? Unknown - likely benign g.156130691C>T g.156160900C>T SEMA4A(NM_022367.4):c.686-5C>T - SEMA4A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>T r.(?) p.(Pro238Ser) Unknown - VUS g.156130722C>T g.156160931C>T - - SEMA4A_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201715448 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
+?/. - c.745dup r.(?) p.(Glu249Glyfs*7) Parent #1 - likely pathogenic g.156130755dup g.156160964dup SEMA4A, variant 1: c.745dup/p.E249Gfs*7 - SEMA4A_000067 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 904 PubMed: Weisschuh 2020 Filing key number: 381, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. 8 c.762T>C r.(?) p.(=) Unknown - likely benign g.156130772T>C g.156160981T>C TTT>TTC - SEMA4A_000005 - PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - Healthy/Control - - - ? ? Pakistan - - - - - 11 Raheel Qamar
+/. 8 c.782dup r.(?) p.(His261Glnfs*7) Parent #1 - pathogenic (dominant) g.156130792dup g.156161001dup - - SEMA4A_000054 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat188 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
-?/. - c.811-6C>A r.(=) p.(=) Unknown - likely benign g.156131131C>A - SEMA4A(NM_022367.4):c.811-6C>A - SEMA4A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829A>G r.(?) p.(Lys277Glu) Unknown ACMG VUS g.156131155A>G g.156161364A>G SEMA4A:NM_001193301 c.A829G, p.K277E - SEMA4A_000065 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-60 PubMed: Rodriguez-Munoz 2020 family fRPN-GB, proband F - Spain - - - - - 1 LOVD
+?/. - c.844_846del r.(?) p.(Lys282del) Parent #1 - likely pathogenic (dominant) g.156131170_156131172del g.156161379_156161381del - - SEMA4A_000053 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690899 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 9 c.844_846del r.(?) p.(Lys282del) Unknown - likely pathogenic g.156131170_156131172del - c.844_846del - SEMA4A_000053 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+?/. - c.985C>T r.(?) p.(Gln329*) Parent #1 - likely pathogenic g.156132736C>T g.156162945C>T SEMA4A, variant 1: c.985C>T/p.Q329* - SEMA4A_000068 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 444 PubMed: Weisschuh 2020 Filing key number: 142, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-/. - c.1011G>A r.(?) p.(Ala337=) Unknown - benign g.156132762G>A g.156162971G>A SEMA4A(NM_001193300.1):c.1011G>A (p.A337=), SEMA4A(NM_022367.4):c.1011G>A (p.A337=) - SEMA4A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011G>A r.(?) p.(Ala337=) Unknown - likely benign g.156132762G>A g.156162971G>A SEMA4A(NM_001193300.1):c.1011G>A (p.A337=), SEMA4A(NM_022367.4):c.1011G>A (p.A337=) - SEMA4A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1012G>A r.(?) p.(Val338Ile) Unknown - VUS g.156132763G>A g.156162972G>A SEMA4A(NM_022367.4):c.1012G>A (p.V338I) - SEMA4A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1033G>C r.(?) p.(Asp345His) Paternal (confirmed) - likely pathogenic g.156132784G>C g.156162993G>C c.345GAC>CAC - SEMA4A_000006 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - CORD - - 2 generation family 1 affected, 2 unaffected carrier parents M no Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1033G>C r.(?) p.(Asp345His) Parent #1 - likely pathogenic g.156132784G>C g.156162993G>C c.345GAC>CAC - SEMA4A_000006 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - CORD - - - ? ? Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1033G>C r.(?) p.(Asp345His) Parent #1 - likely pathogenic g.156132784G>C g.156162993G>C c.345GAC>CAC - SEMA4A_000006 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - retinal disease - - - ? ? Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1033G>C r.(?) p.(Asp345His) Parent #1 - likely pathogenic g.156132784G>C g.156162993G>C c.345GAC>CAC - SEMA4A_000006 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - retinal disease - - - ? ? Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1049T>G r.(?) p.(Phe350Cys) Maternal (confirmed) - likely pathogenic g.156132800T>G g.156163009T>G c.350TTT>TGT - SEMA4A_000007 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - CORD - - 2 generation family 1 affected, 2 unaffected carrier parents M no Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1049T>G r.(?) p.(Phe350Cys) Parent #2 - likely pathogenic g.156132800T>G g.156163009T>G c.350TTT>TGT - SEMA4A_000007 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - CORD - - - ? ? Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1049T>G r.(?) p.(Phe350Cys) Parent #2 - likely pathogenic g.156132800T>G g.156163009T>G c.350TTT>TGT - SEMA4A_000007 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - retinal disease - - - ? ? Pakistan - - - - - 1 Raheel Qamar
+?/. 10 c.1049T>G r.(?) p.(Phe350Cys) Parent #2 - likely pathogenic g.156132800T>G g.156163009T>G c.350TTT>TGT - SEMA4A_000007 compound heterozygous missense variant PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - retinal disease - - - ? ? Pakistan - - - - - 1 Raheel Qamar
-?/. - c.1086A>C r.(?) p.(Ser362=) Unknown - likely benign g.156132837A>C - SEMA4A(NM_001193300.1):c.1086A>C (p.S362=) - SEMA4A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10i c.1134+27_1134+28del r.(=) p.(=) Unknown - likely benign g.156132912_156132913del g.156163121_156163122del CA del 26bp downstream of exon - SEMA4A_000008 13/190 patients, 11 controls (all heterozygous) PubMed: Abid 2006 - - Germline - 0.11 - - - DNA SSCA, SEQ, PCR, PAGE - - Healthy/Control - - - ? ? Pakistan - - - - - 13 Raheel Qamar
-?/. - c.1167G>C r.(?) p.(Leu389=) Unknown - likely benign g.156142649G>C - SEMA4A(NM_001193300.1):c.1167G>C (p.L389=) - SEMA4A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215G>T r.(?) p.(Thr405=) Unknown - likely benign g.156142697G>T g.156172906G>T SEMA4A(NM_001193300.1):c.1215G>T (p.T405=) - SEMA4A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1237G>A r.(?) p.(Val413Met) Unknown - VUS g.156142719G>A g.156172928G>A - - SEMA4A_000045 - - - rs764520336 Germline - - - - - DNA PCR blood - HNPCC (Lynch) - - - ? no Spain European Non-Finish ? - - - 1 Mariona Terradas
?/. - c.1301T>C r.(?) p.(Met434Thr) Unknown - VUS g.156142783T>C g.156172992T>C SEMA4A(NM_022367.4):c.1301T>C (p.M434T) - SEMA4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1301T>C r.(?) p.(Met434Thr) Unknown - likely pathogenic g.156142783T>C - c.1301T>C - SEMA4A_000017 - PubMed: Eisenberger-2013 - rs146822426 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Turkey - - - - - 1 LOVD
?/. - c.1306C>A r.(?) p.(Leu436Met) Unknown - VUS g.156142788C>A g.156172997C>A SEMA4A(NM_022367.4):c.1306C>A (p.L436M) - SEMA4A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314C>A r.(?) p.(Thr438=) Unknown - likely benign g.156142796C>A g.156173005C>A SEMA4A(NM_022367.4):c.1314C>A (p.T438=) - SEMA4A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376A>G r.(?) p.(Glu459Gly) Unknown - VUS g.156144673A>G g.156174882A>G - - SEMA4A_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
-?/. - c.1420C>T r.(?) p.(Leu474=) Unknown - likely benign g.156144717C>T g.156174926C>T SEMA4A(NM_022367.4):c.1420C>T (p.L474=) - SEMA4A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433A>G r.(?) p.(Gln478Arg) Unknown - VUS g.156144730A>G g.156174939A>G - - SEMA4A_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. 12 c.1433A>G r.(?) p.(Gln478Arg) Unknown - VUS g.156144730A>G - c.1433A>G - SEMA4A_000029 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
-/. - c.1434+12C>A r.(=) p.(=) Unknown - benign g.156144743C>A g.156174952C>A SEMA4A(NM_022367.4):c.1434+12C>A - SEMA4A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1435-18T>G r.(=) p.(=) Unknown - likely benign g.156144859T>G g.156175068T>G SEMA4A(NM_001370571.1):c.928-18T>G - SEMA4A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451G>C r.(?) p.(Gly484Ala) Unknown - VUS g.156144893G>C g.156175102G>C - - SEMA4A_000046 - - - rs148744804 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? - Spain European Non-Finish - - - - 1 Mariona Terradas
?/. - c.1474G>A r.(?) p.(Val492Met) Unknown - VUS g.156144916G>A - SEMA4A(NM_022367.3):c.1474G>A (p.(Val492Met)) - SEMA4A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1529G>A r.(?) p.(Arg510Gln) Unknown - benign g.156144971G>A g.156175180G>A - - SEMA4A_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2075164 Germline - 147/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 147 Yoshito Koyanagi
-/. - c.1529G>A r.(?) p.(Arg510Gln) Both (homozygous) - benign g.156144971G>A g.156175180G>A - - SEMA4A_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2075164 Germline - 8/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
+/. - c.1561C>T r.(?) p.(Arg521*) Unknown - pathogenic g.156145003C>T - SEMA4A(NM_001193300.1):c.1561C>T (p.R521*) - SEMA4A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1618C>A r.(?) p.(Arg540=) Unknown - likely benign g.156145372C>A - SEMA4A(NM_001193300.1):c.1618C>A (p.R540=) - SEMA4A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1619G>C r.(?) p.(Arg540Pro) Unknown - VUS g.156145373G>C g.156175582G>C - - SEMA4A_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1202 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.1646G>A r.(?) p.(Ser549Asn) Unknown - VUS g.156145400G>A g.156175609G>A - - SEMA4A_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199696322 Germline - 6/1202 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. - c.1646G>A r.(?) p.(Ser549Asn) Unknown - VUS g.156145400G>A g.156175609G>A - - SEMA4A_000032 - PubMed: Xu 2014 - rs199696322 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP289 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. 14 c.1646G>A r.(?) p.(Ser549Asn) Unknown - VUS g.156145400G>A g.156175609G>A G1646A - SEMA4A_000032 - PubMed: Katagiri 2014 - rs199696322 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#013 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1662G>C r.(?) p.(Arg554Ser) Unknown - VUS g.156145416G>C g.156175625G>C - - SEMA4A_000057 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease QT367 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.1670G>A r.(?) p.(Arg557Gln) Unknown - likely benign g.156145424G>A - SEMA4A(NM_001193300.1):c.1670G>A (p.R557Q) - SEMA4A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1682G>A r.(?) p.(Arg561His) Unknown - likely benign g.156145436G>A g.156175645G>A SEMA4A(NM_022367.4):c.1682G>A (p.R561H) - SEMA4A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1694-8T>C r.(=) p.(=) Unknown - likely benign g.156146188T>C g.156176397T>C SEMA4A(NM_022367.4):c.1694-8T>C - SEMA4A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.1716C>T r.(?) p.(=) Unknown - likely benign g.156146218C>T g.156176427C>T CCC>CCT - SEMA4A_000009 - PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - Healthy/Control - - - ? ? Pakistan - - - - - 9 Raheel Qamar
-/. - c.1716C>T r.(?) p.(Pro572=) Unknown - benign g.156146218C>T g.156176427C>T SEMA4A(NM_022367.4):c.1716C>T (p.P572=) - SEMA4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1716C>T r.(?) p.(Pro572=) Unknown - benign g.156146218C>T g.156176427C>T SEMA4A(NM_022367.4):c.1716C>T (p.P572=) - SEMA4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876G>T r.(?) p.(Ala626Ser) Unknown - VUS g.156146378G>T - SEMA4A(NM_001193300.1):c.1876G>T (p.A626S) - SEMA4A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1969C>G r.(?) p.(Pro657Ala) Unknown - VUS g.156146471C>G g.156176680C>G - - SEMA4A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1972C>T r.(?) p.(Arg658Trp) Unknown - likely pathogenic g.22207207C>T g.21880714C>T c.1940G>A; p.Arg647Gln - SEMA4A_000059 Known high myopia gene; heterozygous variant PubMed: Wan 2018 - - Unknown ? - - - - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0019 PubMed: Wan 2018 - ? - China Han Chinese - - - - 1 LOVD
?/. - c.1973G>A r.(?) p.(Arg658Gln) Unknown ACMG VUS g.156146475G>A g.156176684G>A SEMA4A:NM_001193301 c.G1973A, p.R658Q - SEMA4A_000066 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-296 PubMed: Rodriguez-Munoz 2020 family fRPN-139, proband M - Spain - - - - - 1 LOVD
?/. - c.2038T>C r.(?) p.(Tyr680His) Unknown - VUS g.156146540T>C g.156176749T>C SEMA4A(NM_022367.4):c.2038T>C (p.Y680H) - SEMA4A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. - c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - benign g.156146546C>T g.156176755C>T - - SEMA4A_000001 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76381440 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
?/. - c.2135C>T r.(?) p.(Ala712Val) Unknown - VUS g.156146637C>T g.156176846C>T - - SEMA4A_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 not segregating with disease in other families PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #2 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign, disease-related variants in other gene; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 15 c.2138G>A r.(?) p.(Arg713Gln) Parent #1 - benign g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+?/. 15 c.2138G>A r.(?) p.(Arg713Gln) Maternal (confirmed) - likely pathogenic g.156146640G>A g.156176849G>A CGG>CAG - SEMA4A_000002 not in 200 control chromosomes; hetrozygous missense mutation PubMed: Abid 2006 - - Germline - - - - - DNA SSCA, SEQ, PCR, PAGE - - retinal disease - - 2 generation family 4 affected, 2 normal M no Pakistan - - - - - 4 Raheel Qamar
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