Full data view for gene IFT74

Information The variants shown are described using the NM_025103.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-9063G>A r.(?) p.(=) Unknown - likely benign g.26947471G>A g.26947473G>A IFT74(NM_001099222.2):c.-20+10G>A - IFT74_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.120+2dup r.spl? p.? Unknown - pathogenic g.26962087dup - IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT - IFT74_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.120+2dup r.spl? p.? Unknown - likely pathogenic (recessive) g.26962087dup - NM_001099222.1:c.120+2dup - IFT74_000023 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R95-149 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - white - - - - 1 LOVD
+?/. - c.120+2dup r.spl? p.? Unknown - likely pathogenic g.26962087dup - IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT - IFT74_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.120+2dup r.spl? p.? Unknown - VUS g.26962087dup - IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT - IFT74_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.120+4A>G r.spl? p.? Unknown - VUS g.26962089A>G - IFT74(NM_025103.4):c.120+4A>G - IFT74_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152G>A r.(?) p.(Arg51His) Unknown - VUS g.26978157G>A g.26978159G>A IFT74(NM_001349928.1):c.152G>A (p.R51H) - IFT74_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.163A>T r.(?) p.(Ile55Leu) Unknown - benign g.26978168A>T g.26978170A>T IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163... - IFT74_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163A>T r.(?) p.(Ile55Leu) Unknown - likely benign g.26978168A>T g.26978170A>T IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163... - IFT74_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163A>T r.(?) p.(Ile55Leu) Unknown - likely benign g.26978168A>T - IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163... - IFT74_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163A>T r.(?) p.(Ile55Leu) Unknown - likely benign g.26978168A>T - IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163... - IFT74_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165A>G r.(?) p.(Ile55Met) Unknown - benign g.26978170A>G g.26978172A>G IFT74(NM_001099222.3):c.165A>G (p.I55M) - IFT74_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.254A>G r.(?) p.(Lys85Arg) Unknown - benign g.26978259A>G g.26978261A>G IFT74(NM_001099222.3):c.254A>G (p.K85R) - IFT74_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.257-2A>G r.spl? p.? Unknown - pathogenic g.26980567A>G g.26980569A>G IFT74(NM_001099222.2):c.257-2A>G - IFT74_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303T>C r.(?) p.(Leu101=) Unknown - likely benign g.26980615T>C - IFT74(NM_001349928.1):c.303T>C (p.L101=) - IFT74_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303T>G r.(?) p.(Leu101=) Unknown - likely benign g.26980615T>G g.26980617T>G IFT74(NM_001349928.1):c.303T>G (p.L101=) - IFT74_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328A>G r.(?) p.(Thr110Ala) Unknown - benign g.26984277A>G g.26984279A>G IFT74(NM_001099222.3):c.328A>G (p.T110A) - IFT74_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360A>G r.(?) p.(Glu120=) Unknown - benign g.26984309A>G g.26984311A>G IFT74(NM_001099222.2):c.360A>G (p.E120=) - IFT74_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.371_372del r.(?) p.(Gln124ArgfsTer9) Unknown - likely pathogenic g.26984320_26984321del g.26984322_26984323del IFT74(NM_001099222.3):c.371_372delAA (p.Q124Rfs*9) - IFT74_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.371_372del r.(?) p.(Gln124Argfs*9) Maternal (confirmed) - likely pathogenic g.26984320_26984321del g.26984322_26984323del - - IFT74_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - obesity - - - F no Netherlands - 11y - - - 1 Elles Boon
-?/. - c.375G>A r.(?) p.(Glu125=) Unknown - likely benign g.26984324G>A - IFT74(NM_001349928.2):c.375G>A (p.E125=), IFT74(NM_025103.4):c.375G>A (p.E125=) - IFT74_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375G>A r.(?) p.(Glu125=) Unknown - benign g.26984324G>A - IFT74(NM_001349928.2):c.375G>A (p.E125=), IFT74(NM_025103.4):c.375G>A (p.E125=) - IFT74_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404+5G>A r.spl? p.? Unknown - VUS g.26984358G>A - IFT74(NM_001099222.1):c.404+5G>A (p.?), IFT74(NM_001349928.2):c.404+5G>A - IFT74_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404+5G>A r.spl? p.? Unknown - VUS g.26984358G>A - IFT74(NM_001099222.1):c.404+5G>A (p.?), IFT74(NM_001349928.2):c.404+5G>A - IFT74_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405-3C>T r.spl? p.? Unknown - likely benign g.26984494C>T - IFT74(NM_001349928.2):c.405-3C>T, IFT74(NM_025103.4):c.405-3C>T - IFT74_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405-3C>T r.spl? p.? Unknown - likely benign g.26984494C>T - IFT74(NM_001349928.2):c.405-3C>T, IFT74(NM_025103.4):c.405-3C>T - IFT74_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593A>G r.(?) p.(Glu198Gly) Unknown - VUS g.27009023A>G g.27009025A>G IFT74(NM_001099222.2):c.593A>G (p.E198G) - IFT74_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Glu205Lys) Unknown - VUS g.27009043G>A - IFT74(NM_001349928.1):c.613G>A (p.E205K) - IFT74_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.670T>C r.(?) p.(Phe224Leu) Unknown - benign g.27009100T>C g.27009102T>C IFT74(NM_001099222.3):c.670T>C (p.F224L) - IFT74_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727-9del r.(=) p.(=) Unknown - likely benign g.27011895del g.27011897del IFT74(NM_001099222.3):c.727-9delT - IFT74_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740T>A r.(?) p.(Leu247His) Unknown - likely benign g.27011917T>A g.27011919T>A IFT74(NM_001099222.3):c.740T>A (p.L247H) - IFT74_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968A>G r.(?) p.(Glu323Gly) Unknown - VUS g.27018679A>G g.27018681A>G IFT74(NM_001099222.2):c.968A>G (p.E323G), IFT74(NM_025103.4):c.968A>G (p.E323G) - IFT74_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968A>G r.(?) p.(Glu323Gly) Unknown - VUS g.27018679A>G - IFT74(NM_001099222.2):c.968A>G (p.E323G), IFT74(NM_025103.4):c.968A>G (p.E323G) - IFT74_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.975_982del r.(?) p.(Leu326Tyrfs*10) Unknown - pathogenic g.27029023_27029030del - IFT74(NM_025103.4):c.975-5_977delAACAGGTT - IFT74_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986del r.(?) p.(Thr329Lysfs*5) Unknown - likely pathogenic g.27029034del - IFT74(NM_001349928.2):c.986delC (p.T329Kfs*5) - IFT74_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1054G>T r.(?) p.(Gly352Cys) Unknown - likely pathogenic (recessive) g.27029102G>T - NM_001099222.1:c.1054G>T - IFT74_000027 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R09-612A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Latino - - - - 1 LOVD
-?/. - c.1054+3A>T r.spl? p.? Unknown - likely benign g.27029105A>T - IFT74(NM_001349928.2):c.1054+3A>T, IFT74(NM_025103.4):c.1054+3A>T - IFT74_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054+3A>T r.spl? p.? Unknown - likely benign g.27029105A>T - IFT74(NM_001349928.2):c.1054+3A>T, IFT74(NM_025103.4):c.1054+3A>T - IFT74_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1054+7385C>T r.(=) p.(=) Unknown - benign g.27036487C>T - IFT74(NM_001099224.3):c.1094C>T (p.T365I) - IFT74_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1055-4176_1684+340del r.(?) p.(Gly352_Phe562delinsVal) Maternal (confirmed) - pathogenic g.27040564_27060989del - del exon14_19 27040563-27060990del - IFT74_000024 20,427 bp deletion, AluSz - AluY PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR672-04 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
-?/. - c.1067A>G r.(?) p.(Gln356Arg) Unknown - likely benign g.27044752A>G - IFT74(NM_001349928.1):c.1067A>G (p.Q356R) - IFT74_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109-20_1109-19del r.(=) p.(=) Unknown - likely benign g.27047252_27047253del - IFT74(NM_025103.4):c.1109-20_1109-19delTT - IFT74_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1206+2dup r.spl? p.? Unknown - pathogenic g.27047371dup g.27047373dup IFT74(NM_001099222.2):c.1206+2dupT - IFT74_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1206+4A>G r.spl? p.? Unknown - VUS g.27047373A>G - IFT74(NM_001099222.1):c.1206+4A>G (p.?), IFT74(NM_001349928.2):c.1206+4A>G - IFT74_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1206+4A>G r.spl? p.? Unknown - VUS g.27047373A>G - IFT74(NM_001099222.1):c.1206+4A>G (p.?), IFT74(NM_001349928.2):c.1206+4A>G - IFT74_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398A>C r.(?) p.(Glu466Asp) Unknown - likely benign g.27055671A>C - IFT74(NM_001349928.2):c.1398A>C (p.E466D) - IFT74_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1500A>G r.(?) p.(=) Unknown - VUS g.27056334A>G - IFT74(NM_025103.4):c.1500A>G (p.(Lys500=)) - IFT74_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542C>T r.(?) p.(Ala514=) Unknown - likely benign g.27056376C>T g.27056378C>T IFT74(NM_001099222.3):c.1542C>T (p.A514=) - IFT74_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1589A>G r.(?) p.(Lys530Arg) Unknown - VUS g.27056423A>G - IFT74(NM_001349928.1):c.1589A>G (p.K530R) - IFT74_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1685-1G>T r.spl? p.? Unknown - likely pathogenic g.27062615G>T g.27062617G>T IFT74(NM_001099222.3):c.1685-1G>T - IFT74_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1685-1G>T r.spl p.? Paternal (confirmed) - likely pathogenic g.27062615G>T g.27062617G>T - - IFT74_000018 - - ClinVar-RCV000240867.2 - Germline - - - - - DNA SEQ-NG-I - - obesity - - - F no Netherlands - 11y - - - 1 Elles Boon
?/. - c.1685-1G>T r.spl? p.? Unknown - VUS g.27062615G>T g.27062617G>T IFT74(NM_001099222.3):c.1685-1G>T - IFT74_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1685-1G>T r.spl p.? Paternal (confirmed) - pathogenic g.27062615G>T g.27062617G>T - - IFT74_000018 - PubMed: Lindstrand 2016 - rs200699377 Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR672-04 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
-?/. - c.1735G>A r.(?) p.(Val579Met) Unknown - likely benign g.27062666G>A g.27062668G>A IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c.... - IFT74_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735G>A r.(?) p.(Val579Met) Unknown - likely benign g.27062666G>A g.27062668G>A IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c.... - IFT74_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1735G>A r.(?) p.(Val579Met) Unknown - VUS g.27062666G>A g.27062668G>A - - IFT74_000007 benign PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR634-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
-?/. - c.1735G>A r.(?) p.(Val579Met) Unknown - likely benign g.27062666G>A - IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c.... - IFT74_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1754A>G r.(?) p.(Glu585Gly) Unknown - VUS g.27062685A>G g.27062687A>G IFT74(NM_001099222.2):c.1754A>G (p.E585G) - IFT74_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778C>T r.(?) p.(Ala593Val) Unknown - VUS g.27062709C>T - IFT74(NM_025103.3):c.1778C>T (p.A593V) - IFT74_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1790C>T r.(?) p.(Thr597Ile) Unknown - benign g.27062721C>T g.27062723C>T IFT74(NM_001099222.3):c.1790C>T (p.T597I) - IFT74_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1791C>T r.(?) p.(=) Unknown - likely benign g.27062722C>T - IFT74(NM_001099222.3):c.1791C>T (p.T597=) - IFT74_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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