Full data view for gene SNX14

Information The variants shown are described using the NM_153816.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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     
+/. 3i_29_ c.(261+1_262-1_*1_?)del r.? p.? Both (homozygous) - pathogenic g.(?_86201694)_(86282093_?)del - - - SNX14_000006 64 kb deletion PubMed: Karaca 2015 - - Germline - - - 0 - DNA arrayCGH - - ? 26539891-BAB3498 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected carrier parents F - Turkey - - 0 - - 1 Johan den Dunnen
-?/. - c.99C>T r.(?) p.(Phe33=) Unknown - likely benign g.86303338G>A g.85593620G>A SNX14(NM_153816.5):c.99C>T (p.F33=) - SNX14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141-9_141-6del r.(=) p.(=) Unknown - likely benign g.86284106_86284109del - SNX14(NM_020468.3):c.141-9_141-6del (p.(=)) - SNX14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142T>C r.(?) p.(Tyr48His) Unknown - VUS g.86284095A>G g.85574377A>G SNX14(NM_153816.5):c.142T>C (p.Y48H) - SNX14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.252C>G r.(?) p.(Tyr84Ter) Unknown - pathogenic g.86283985G>C g.85574267G>C - - SNX14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.264G>T r.(?) p.(Gln88His) Unknown - benign g.86282090C>A g.85572372C>A SNX14(NM_153816.5):c.264G>T (p.Q88H) - SNX14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295C>T r.(?) p.(His99Tyr) Unknown - VUS g.86282059G>A g.85572341G>A SNX14(NM_001350532.1):c.358C>T (p.H120Y) - SNX14_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328A>G r.(?) p.(Lys110Glu) Unknown - likely benign g.86282026T>C g.85572308T>C SNX14(NM_153816.5):c.328A>G (p.K110E) - SNX14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.398T>C r.(?) p.(Val133Ala) Unknown - VUS g.86281874A>G g.85572156A>G SNX14(NM_020468.3):c.398T>C (p.(Val133Ala)) - SNX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.459C>A r.(?) p.(Tyr153Ter) Both (homozygous) ACMG pathogenic (recessive) g.86277254G>T g.85567536G>T - - SNX14_000031 - PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M9000121 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - 0 - - 2 Johan den Dunnen
?/. - c.610G>A r.(?) p.(Val204Met) Unknown - VUS g.86267718C>T g.85558000C>T SNX14(NM_153816.5):c.610G>A (p.V204M) - SNX14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.791G>T r.(?) p.(Arg264Ile) Unknown - likely pathogenic g.86259441C>A g.85549723C>A - - SNX14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Gly358=) Unknown - likely benign g.86256864G>A g.85547146G>A SNX14(NM_153816.5):c.1074C>T (p.G358=) - SNX14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1097G>T r.(?) p.(Cys366Phe) Unknown - VUS g.86256841C>A - SNX14(NM_001350532.1):c.1160G>T (p.C387F) - SNX14_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; 4 affected; older sister of 25439728_Fam2_IV.2; 2nd aunt of 25439728_Fam2_V.1 and 25439728_Fam2_V.2. F yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_IV.1; 2nd uncle to 25439728_Fam2_V.1 and 25439728_Fam2_V.2 M yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; sister to 25439728_Fam2_V.2; 2nd cousin to 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 F yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_V.1; 2nd nephew of 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 M yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
-?/. - c.1239C>T r.(?) p.(Pro413=) Unknown - likely benign g.86253348G>A g.85543630G>A SNX14(NM_153816.5):c.1239C>T (p.P413=) - SNX14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1279T>C r.(?) p.(Tyr427His) Unknown - VUS g.86253010A>G - SNX14(NM_001350532.1):c.1342T>C (p.Y448H) - SNX14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420T>A r.(?) p.(Ser474Thr) Unknown - likely benign g.86251731A>T - SNX14(NM_001350532.1):c.1483T>A (p.S495T) - SNX14_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1672dup r.(?) p.(Thr558Asnfs*11) Both (homozygous) - pathogenic g.86243455dup g.85533737dup NM_020468: c.1513dupA; p.T505fs - SNX14_000007 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBABCGD-62463468 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 1 Johan den Dunnen
?/. - c.1809A>G r.(?) p.(Ala603=) Unknown - VUS g.86243318T>C g.85533600T>C - - SNX14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1837_1840del r.(?) p.(Val613IlefsTer14) Unknown - pathogenic g.86239968_86239971del g.85530250_85530253del - - SNX14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 19i c.1894+1G>A r.1810_1894del p.Ala603_Gly632del Both (homozygous) - pathogenic g.86239909C>T g.85530191C>T - - SNX14_000003 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA, RNA arraySNP, RT-PCR, SEQ - - ID - PubMed: Thomas 2014 3 generation family F yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. - c.1894+1G>T r.spl? p.? Both (homozygous) ACMG pathogenic g.86239909C>A g.85530191C>A - - SNX14_000005 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR20 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
-?/. - c.1959A>G r.(?) p.(Leu653=) Unknown - likely benign g.86238016T>C - SNX14(NM_001350532.1):c.2022A>G (p.L674=) - SNX14_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140A>G r.(?) p.(Met714Val) Unknown - likely benign g.86227734T>C g.85518016T>C SNX14(NM_001350532.1):c.2203A>G (p.M735V) - SNX14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2392+6A>T r.(=) p.(=) Unknown - likely benign g.86224218T>A g.85514500T>A SNX14(NM_153816.5):c.2392+6A>T - SNX14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2532G>A r.(?) p.(Leu844=) Unknown - benign g.86223813C>T g.85514095C>T SNX14(NM_153816.5):c.2532G>A (p.L844=) - SNX14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593C>T r.(?) p.(Leu865Phe) Unknown - VUS g.86223578G>A g.85513860G>A SNX14(NM_153816.5):c.2593C>T (p.L865F) - SNX14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 26 c.2596C>T r.(?) p.(Gln866*) Both (homozygous) - likely pathogenic g.86223575G>A g.85513857G>A - - SNX14_000001 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5-generation family, sister of 25439728_Fam1_IV.6 F yes Portugal - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 26 c.2596C>T r.(?) p.(Gln866*) Both (homozygous) - pathogenic g.86223575G>A g.85513857G>A - - SNX14_000001 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger sister of 25439728_Fam1_IV.3; 4 unaffected siblings. F yes Portugal - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
?/. - c.2670del r.(?) p.(Cys890Ter) Unknown - VUS g.86217761del g.85508043del SNX14(NM_001350532.1):c.2733delT (p.C911*), SNX14(NM_153816.3):c.2670del (p.?) - SNX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2670del r.(?) p.(Cys890Ter) Unknown - pathogenic g.86217761del - SNX14(NM_001350532.1):c.2733delT (p.C911*), SNX14(NM_153816.3):c.2670del (p.?) - SNX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2722C>T r.(?) p.(Gln908*) Both (homozygous) ACMG likely pathogenic g.86217709G>A g.85507991G>A - - SNX14_000004 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR20 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+?/. - c.2722C>T r.(?) p.(Gln908*) Both (homozygous) ACMG likely pathogenic g.86217709G>A g.85507991G>A - - SNX14_000004 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR20 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
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