All variants in the VIPAS39 gene

Information The variants shown are described using the NM_022067.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-1+8G>C r.(=) p.(=) - likely benign g.77923430C>G - VIPAS39(NM_022067.4):c.-1+8G>C - AHSA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 c.2T>G r.(?) p.0? - pathogenic g.77920444A>C g.77454101A>C - - VIPAS39_000001 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
?/? 1 c.78C>T r.(?) p.(=) - VUS g.77920368G>A g.77454025G>A c.2T>G (p.(Met1Arg)) - VIPAS39_000010 - - - rs112217896 Unknown - - - - - Paul Gissen
-?/. - c.110G>A r.(?) p.(Arg37Gln) - likely benign g.77919728C>T - VIPAS39(NM_022067.4):c.110G>A (p.R37Q) - AHSA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.136G>A r.(?) p.(Val46Met) - likely benign g.77919702C>T g.77453359C>T - - AHSA1_000002 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148360332 Germline - 7/2795 individuals - - - Mohammed Faruq
-?/. - c.136G>A r.(?) p.(Val46Met) - likely benign g.77919702C>T - VIPAS39(NM_022067.4):c.136G>A (p.V46M) - AHSA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.171C>G r.(?) p.(=) - VUS g.77919667G>C - VIPAS39(NM_001193315.2):c.171C>G (p.(Val57=)) - AHSA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.197G>T r.(?) p.(Ser66Ile) - VUS g.77917676C>A - VIPAS39(NM_001193314.1):c.197G>T (p.S66I) - VIPAS39_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 3 c.234C>T r.(?) p.(=) - VUS g.77917639G>A g.77451296G>A - - VIPAS39_000015 - - - rs17105802 Unknown - 0.00177 - - - Paul Gissen
+/. - c.247G>T r.(?) p.(Glu83Ter) - pathogenic g.77917626C>A g.77451283C>A - - VIPAS39_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.447+9C>T r.(=) p.(=) - likely benign g.77915627G>A - VIPAS39(NM_001193315.2):c.447+9C>T, VIPAS39(NM_022067.4):c.447+9C>T - VIPAS39_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.447+9C>T r.(=) p.(=) - likely benign g.77915627G>A - VIPAS39(NM_001193315.2):c.447+9C>T, VIPAS39(NM_022067.4):c.447+9C>T - VIPAS39_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.447+14T>C r.(=) p.(=) - likely benign g.77915622A>G - VIPAS39(NM_022067.4):c.447+14T>C - VIPAS39_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 6 c.463_464del r.(?) p.(Trp155Glufs*4) - pathogenic g.77914877_77914878del g.77448534_77448535del - - VIPAS39_000021 - - - - Unknown - - - - - Paul Gissen
+/+ 6 c.484C>T r.(?) p.(Arg162*) - pathogenic g.77914857G>A g.77448514G>A - - VIPAS39_000022 - - - - Unknown - - - - - Paul Gissen
?/? 6 c.488G>A r.(?) p.(Arg163His) - VUS g.77914853C>T g.77448510C>T - - VIPAS39_000012 - - - rs78246426 Unknown - - - - - Paul Gissen
-?/. - c.504+9A>G r.(=) p.(=) - likely benign g.77914828T>C - VIPAS39(NM_001193315.2):c.504+9A>G - VIPAS39_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 7 c.535C>T r.(?) p.(Gln179*) - pathogenic g.77910654G>A g.77444311G>A - - VIPAS39_000002 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
-?/. - c.632-14T>C r.(=) p.(=) - likely benign g.77909019A>G - VIPAS39(NM_001193314.2):c.632-14T>C - VIPAS39_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.632-13G>A r.(=) p.(=) - likely benign g.77909018C>T - VIPAS39(NM_022067.4):c.632-13G>A - VIPAS39_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 9 c.638T>C r.(?) p.(Leu213Pro) - pathogenic g.77908999A>G g.77442656A>G - - VIPAS39_000023 - - - - Unknown - - - - - Paul Gissen
+/+ 9 c.658C>T r.(?) p.(Arg220*) - pathogenic g.77908979G>A g.77442636G>A - - VIPAS39_000003 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
+/+ 9 c.658C>T r.(?) p.(Arg220*) - pathogenic g.77908979G>A g.77442636G>A - - VIPAS39_000003 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
+?/. - c.658C>T r.(?) p.(Arg220*) - likely pathogenic g.77908979G>A - VIPAS39(NM_001193315.2):c.658C>T (p.(Arg220Ter)) - VIPAS39_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/-? 9 c.683T>C r.(?) p.(Ile228Thr) - likely benign g.77908954A>G g.77442611A>G - - VIPAS39_000018 - - - - Unknown - - - - - Paul Gissen
+/. - c.706del r.(?) p.(Asp236IlefsTer6) - pathogenic g.77908934del - VIPAS39(NM_001193314.2):c.706delG (p.D236Ifs*6) - VIPAS39_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 10 c.749_753del r.(?) p.(Thr250Argfs*17) - pathogenic g.77907422_77907426del g.77441079_77441083del - - VIPAS39_000007 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
+/+ 11 c.808C>T r.(?) p.(Arg270*) - pathogenic g.77904179G>A g.77437836G>A - - VIPAS39_000004 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
+/+ 11 c.808C>T r.(?) p.(Arg270*) - pathogenic g.77904179G>A g.77437836G>A - - VIPAS39_000004 - - - - Unknown - - - - - Paul Gissen
+/+ 11i c.837-1G>T r.spl? p.(?) - pathogenic g.77902263C>A g.77435920C>A - - VIPAS39_000020 - - - - Unknown - - - - - Paul Gissen
+/+ 12 c.871C>T r.(?) p.(Gln291*) - pathogenic g.77902228G>A g.77435885G>A - - VIPAS39_000005 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
-?/. - c.913-12A>G r.(=) p.(=) - likely benign g.77901748T>C - VIPAS39(NM_001193314.2):c.913-12A>G - VIPAS39_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 13 c.1021T>C r.(?) p.(Cys341Arg) - likely pathogenic g.77901628A>G g.77435285A>G - - VIPAS39_000019 - - - - Unknown - - - - - Paul Gissen
?/? 14 c.1065C>T r.(?) p.(=) - VUS g.77900629G>A g.77434286G>A - - VIPAS39_000008 - - - rs118155418 Unknown - - - - - Paul Gissen
-?/. - c.1180-10C>T r.(=) p.(=) - likely benign g.77896120G>A - VIPAS39(NM_001193315.2):c.1180-10C>T - VIPAS39_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 16 c.1242G>A r.(?) p.(=) - VUS g.77896048C>T g.77429705C>T - - VIPAS39_000014 - - - rs45447095 Unknown - 0.0053 - - - Paul Gissen
+/+ 17 c.1273C>T r.(?) p.(Gln425*) - pathogenic g.77895432G>A g.77429089G>A - - VIPAS39_000006 - PubMed: Cullinane 2010 - - Unknown - - - - - Paul Gissen
-?/. - c.1445C>A r.(?) p.(Ala482Asp) - likely benign g.77894729G>T g.77428386G>T VIPAS39(NM_001193314.1):c.1445C>A (p.(Ala482Asp)) - NOXRED1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1450C>T r.(?) p.(Leu484Phe) - likely benign g.77894724G>A g.77428381G>A VIPAS39(NM_001193314.1):c.1450C>T (p.(Leu484Phe)) - NOXRED1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 18 c.1450C>T r.(?) p.(Leu484Phe) - VUS g.77894724G>A g.77428381G>A - - VIPAS39_000013 - - - rs75211061 Unknown - - - - - Paul Gissen
?/. - c.1455C>A r.(?) p.(Ser485Arg) - VUS g.77894719G>T g.77428376G>T VIPAS39(NM_022067.4):c.1455C>A (p.S485R) - VIPAS39_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1455C>A r.(?) p.(Ser485Arg) - likely benign g.77894719G>T - VIPAS39(NM_022067.4):c.1455C>A (p.S485R) - VIPAS39_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1469G>A r.(?) p.(Arg490Gln) - VUS g.77893972C>T - VIPAS39(NM_001193314.1):c.1469G>A (p.R490Q) - NOXRED1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? UTR c.*361T>C r.(=) p.(=) - VUS g.77893598A>G g.77427255A>G - - VIPAS39_000009 - - - rs112684413 Unknown - - - - - Paul Gissen
-/. - c.*528= r.(=) p.(=) - benign g.77893431A>G g.77427088A>G - - VIPAS39_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? UTR c.*528C>T r.? p.(=) - VUS g.77893431G>A - - - VIPAS39_000016 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs8009177 Unknown - - - - - Paul Gissen
?/? UTR c.*531C>T r.(=) p.(=) - VUS g.77893428G>A g.77427085G>A - - VIPAS39_000011 - - - rs78980929 Unknown - - - - - Paul Gissen
?/? UTR c.*683C>T r.(=) p.(=) - VUS g.77893276G>A g.77426933G>A - - VIPAS39_000017 - - - rs4223 Unknown - 0.489 - - - Paul Gissen
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