Full data view for gene PI4KA

Information The variants shown are described using the NM_058004.3 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
Legend   How to query  

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.-617549_*2223048dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-251106_*2039172del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-251106_*2168772del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-251106_*2173296del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.-619G>C r.(?) p.(=) Unknown - likely benign g.21213632C>G g.20859344C>G SNAP29(NM_004782.3):c.234C>G (p.S78=) - SNAP29_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-515A>G r.(?) p.(=) Unknown - benign g.21213528T>C g.20859240T>C SNAP29(NM_004782.3):c.130T>C (p.Y44H) - PI4KA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-476G>A r.(?) p.(=) Unknown - likely benign g.21213489C>T g.20859201C>T SNAP29(NM_004782.3):c.91C>T (p.L31F) - PI4KA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-403T>C r.(?) p.(=) Unknown - benign g.21213416A>G g.20859128A>G SNAP29(NM_004782.3):c.18A>G (p.K6=), SNAP29(NM_004782.4):c.18A>G (p.K6=) - SNAP29_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-403T>C r.(?) p.(=) Unknown - benign g.21213416A>G g.20859128A>G SNAP29(NM_004782.3):c.18A>G (p.K6=), SNAP29(NM_004782.4):c.18A>G (p.K6=) - SNAP29_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-381C>T r.(?) p.(=) Unknown - benign g.21213394G>A g.20859106G>A SNAP29(NM_004782.3):c.-5G>A - SNAP29_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-378G>C r.(?) p.(=) Unknown - benign g.21213391C>G g.20859103C>G SNAP29(NM_004782.3):c.-8C>G - SNAP29_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-367G>A r.(?) p.(=) Unknown - benign g.21213380C>T g.20859092C>T SNAP29(NM_004782.3):c.-19C>T, SNAP29(NM_004782.4):c.-19C>T - PI4KA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-367G>A r.(?) p.(=) Unknown - benign g.21213380C>T g.20859092C>T SNAP29(NM_004782.3):c.-19C>T, SNAP29(NM_004782.4):c.-19C>T - PI4KA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36_47dup r.(?) p.(Gly15_Gly18dup) Unknown - likely benign g.21212981_21212992dup g.20858693_20858704dup PI4KA(NM_058004.3):c.36_47dupAGGCGGAGGCGG (p.G15_G18dup), PI4KA(NM_058004.4):c.36_47dup (p.(Gly15_Gly18dup)) - PI4KA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36_47dup r.(?) p.(Gly15_Gly18dup) Unknown - benign g.21212981_21212992dup g.20858693_20858704dup PI4KA(NM_058004.3):c.36_47dupAGGCGGAGGCGG (p.G15_G18dup), PI4KA(NM_058004.4):c.36_47dup (p.(Gly15_Gly18dup)) - PI4KA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42_47del r.(?) p.(Gly17_Gly18del) Unknown - benign g.21212987_21212992del g.20858699_20858704del PI4KA(NM_058004.3):c.42_47del (p.(Gly17_Gly18del)), PI4KA(NM_058004.3):c.42_47delAGGCGG (p.G17_G18del) - PI4KA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42_47del r.(?) p.(Gly17_Gly18del) Unknown - VUS g.21212987_21212992del g.20858699_20858704del PI4KA(NM_058004.3):c.42_47del (p.(Gly17_Gly18del)), PI4KA(NM_058004.3):c.42_47delAGGCGG (p.G17_G18del) - PI4KA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42_47dup r.(?) p.(Gly17_Gly18dup) Unknown - VUS g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42_47dup r.(?) p.(Gly17_Gly18dup) Unknown - benign g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42_47dup r.(?) p.(Gly17_Gly18dup) Unknown - benign g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42_53del r.(?) p.(Gly15_Gly18del) Unknown - benign g.21212966_21212977del - PI4KA(NM_058004.3):c.42_53delAGGCGGCGGCGG (p.G15_G18del) - PI4KA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229G>A r.(?) p.(Ala77Thr) Unknown - VUS g.21192947C>T g.20838659C>T PI4KA(NM_058004.3):c.229G>A (p.A77T) - PI4KA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.574C>T r.(?) p.(Arg192Ter) Unknown - pathogenic g.21174144G>A - PI4KA(NM_058004.3):c.574C>T (p.R192*) - PI4KA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.653G>A r.(?) p.(Arg218His) Unknown - VUS g.21174065C>T - PI4KA(NM_058004.4):c.653G>A (p.R218H) - PI4KA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703C>T r.(?) p.(Arg235Cys) Unknown - VUS g.21174015G>A - PI4KA(NM_058004.4):c.703C>T (p.(Arg235Cys)) - PI4KA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.817C>G r.(?) p.(Pro273Ala) Unknown - likely benign g.21172810G>C - PI4KA(NM_058004.3):c.817C>G (p.P273A) - PI4KA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(=) Unknown - likely benign g.21167781G>A - - - PI4KA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045G>C r.(?) p.(Asp349His) Unknown - VUS g.21165281C>G g.20810993C>G PI4KA(NM_058004.3):c.1045G>C (p.D349H) - PI4KA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185T>C r.(?) p.(Phe395=) Unknown - likely benign g.21159437A>G - PI4KA(NM_058004.3):c.1185T>C (p.F395=) - PI4KA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353C>T r.(?) p.(Asp451=) Unknown - likely benign g.21159269G>A - PI4KA(NM_058004.3):c.1353C>T (p.D451=) - PI4KA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1541C>T r.(?) p.(Pro514Leu) Unknown - VUS g.21157529G>A g.20803241G>A PI4KA(NM_058004.3):c.1541C>T (p.P514L) - PI4KA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1692G>T r.(?) p.(Gln564His) Unknown - VUS g.21156293C>A - - - PI4KA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1791C>T r.(?) p.(Asn597=) Unknown - likely benign g.21153988G>A g.20799700G>A PI4KA(NM_058004.3):c.1791C>T (p.N597=) - PI4KA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893G>A r.(?) p.(Pro631=) Unknown - likely benign g.21153492C>T - PI4KA(NM_058004.3):c.1893G>A (p.P631=) - PI4KA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2328+13258C>T r.(=) p.(=) Unknown - likely benign g.21134223G>A g.20779935G>A PI4KA(NM_058004.3):c.2328+13258C>T (p.?), SERPIND1(NM_000185.3):c.623G>A (p.R208H), SERPIND1(NM_000185.4):c.623G>A (p.R208H) - PI4KA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2328+13258C>T r.(=) p.(=) Parent #1 - pathogenic g.21134223G>A g.20779935G>A - - PI4KA_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5907 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2328+13258C>T r.(=) p.(=) Unknown - VUS g.21134223G>A - PI4KA(NM_058004.3):c.2328+13258C>T (p.?), SERPIND1(NM_000185.3):c.623G>A (p.R208H), SERPIND1(NM_000185.4):c.623G>A (p.R208H) - PI4KA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2328+13258C>T r.(=) p.(=) Unknown - VUS g.21134223G>A - PI4KA(NM_058004.3):c.2328+13258C>T (p.?), SERPIND1(NM_000185.3):c.623G>A (p.R208H), SERPIND1(NM_000185.4):c.623G>A (p.R208H) - PI4KA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2328+13339A>G r.(=) p.(=) Unknown - VUS g.21134142T>C - SERPIND1(NM_000185.3):c.542T>C (p.(Leu181Ser)) - PI4KA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2328+13636A>G r.(=) p.(=) Unknown - VUS g.21133845T>C - SERPIND1(NM_000185.3):c.245T>C (p.L82P) - PI4KA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2328+13653G>A r.(=) p.(=) Unknown - likely benign g.21133828C>T - SERPIND1(NM_000185.3):c.228C>T (p.D76=) - PI4KA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2329-10232_2329-10231del r.(=) p.(=) Unknown - VUS g.21130215_21130216del g.20775927_20775928del PI4KA(NM_058004.3):c.2329-10232_2329-10231del (p.(=)) - PI4KA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2374C>T r.(?) p.(Gln792Ter) Unknown - pathogenic g.21119936G>A g.20765648G>A PI4KA(NM_058004.4):c.2374C>T (p.Q792*) - PI4KA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2497C>G r.(?) p.(Leu833Val) Unknown - VUS g.21119465G>C - PI4KA(NM_058004.3):c.2497C>G (p.L833V) - PI4KA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2665A>G r.(?) p.(Met889Val) Unknown - likely benign g.21119148T>C g.20764860T>C PI4KA(NM_058004.3):c.2665A>G (p.M889V), PI4KA(NM_058004.4):c.2665A>G (p.(Met889Val)) - PI4KA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2665A>G r.(?) p.(Met889Val) Unknown - VUS g.21119148T>C - PI4KA(NM_058004.3):c.2665A>G (p.M889V), PI4KA(NM_058004.4):c.2665A>G (p.(Met889Val)) - PI4KA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2988-4G>C r.spl? p.? Unknown - likely benign g.21106047C>G - PI4KA(NM_058004.3):c.2988-4G>C, PI4KA(NM_058004.4):c.2988-4G>C - PI4KA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2988-4G>C r.spl? p.? Unknown - likely benign g.21106047C>G - PI4KA(NM_058004.3):c.2988-4G>C, PI4KA(NM_058004.4):c.2988-4G>C - PI4KA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3053C>T r.(?) p.(Ser1018Leu) Unknown - VUS g.21105978G>A g.20751690G>A - - PI4KA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3294G>A r.(?) p.(Thr1098=) Unknown - likely benign g.21101940C>T g.20747652C>T PI4KA(NM_058004.3):c.3294G>A (p.T1098=) - PI4KA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3448G>A r.(?) p.(Ala1150Thr) Unknown - likely benign g.21098924C>T g.20744636C>T PI4KA(NM_058004.3):c.3448G>A (p.A1150T) - PI4KA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3570G>A r.(?) p.(Thr1190=) Unknown - likely benign g.21096939C>T - PI4KA(NM_058004.3):c.3570G>A (p.T1190=) - PI4KA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3777G>A r.(?) p.(Thr1259=) Unknown - likely benign g.21088806C>T g.20734518C>T PI4KA(NM_058004.3):c.3777G>A (p.T1259=) - PI4KA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3958T>A r.(?) p.(Phe1320Ile) Unknown - VUS g.21088425A>T - PI4KA(NM_058004.4):c.3958T>A (p.(Phe1320Ile)) - PI4KA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4368C>T r.(?) p.(Tyr1456=) Unknown - likely benign g.21084220G>A - PI4KA(NM_058004.3):c.4368C>T (p.Y1456=) - PI4KA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4408+4G>A r.spl? p.? Unknown - likely benign g.21084176C>T - PI4KA(NM_058004.3):c.4408+4G>A - PI4KA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4427A>G r.(?) p.(Asn1476Ser) Unknown - benign g.21083981T>C g.20729693T>C PI4KA(NM_058004.3):c.4427A>G (p.N1476S) - PI4KA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4489-9T>C r.(=) p.(=) Unknown - likely benign g.21083803A>G - PI4KA(NM_058004.4):c.4489-9T>C - PI4KA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4598T>G r.(?) p.(Ile1533Ser) Unknown - VUS g.21083685A>C - PI4KA(NM_058004.3):c.4598T>G (p.(Ile1533Ser)) - PI4KA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4639G>A r.(?) p.(Ala1547Thr) Unknown - VUS g.21083644C>T - PI4KA(NM_058004.3):c.4639G>A (p.A1547T) - PI4KA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4666G>A r.(?) p.(Val1556Met) Unknown - VUS g.21083617C>T g.20729329C>T PI4KA(NM_058004.3):c.4666G>A (p.V1556M) - PI4KA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4672C>T r.(?) p.(Leu1558=) Unknown - likely benign g.21083611G>A - PI4KA(NM_058004.3):c.4672C>T (p.L1558=) - PI4KA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4801G>A r.(?) p.(Ala1601Thr) Unknown - likely benign g.21081658C>T g.20727370C>T - - PI4KA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5137G>C r.(?) p.(Asp1713His) Unknown - VUS g.21073090C>G - PI4KA(NM_058004.3):c.5137G>C (p.D1713H), PI4KA(NM_058004.4):c.5137G>C (p.(Asp1713His)) - PI4KA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5137G>C r.(?) p.(Asp1713His) Unknown - VUS g.21073090C>G - PI4KA(NM_058004.3):c.5137G>C (p.D1713H), PI4KA(NM_058004.4):c.5137G>C (p.(Asp1713His)) - PI4KA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5235G>A r.(?) p.(Ser1745=) Unknown - likely benign g.21072992C>T g.20718704C>T PI4KA(NM_058004.3):c.5235G>A (p.S1745=), PI4KA(NM_058004.4):c.5235G>A (p.S1745=) - PI4KA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5235G>A r.(?) p.(Ser1745=) Unknown - likely benign g.21072992C>T g.20718704C>T PI4KA(NM_058004.3):c.5235G>A (p.S1745=), PI4KA(NM_058004.4):c.5235G>A (p.S1745=) - PI4KA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5246+6T>C r.(=) p.(=) Unknown - likely benign g.21072975A>G - PI4KA(NM_058004.4):c.5246+6T>C - PI4KA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5429A>G r.(?) p.(Lys1810Arg) Unknown - likely benign g.21068778T>C g.20714490T>C PI4KA(NM_058004.3):c.5429A>G (p.K1810R) - PI4KA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5522_5524del r.(?) p.(Lys1841del) Unknown - VUS g.21067619_21067621del - PI4KA(NM_058004.3):c.5522_5524delAGA (p.K1841del) - PI4KA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5596G>A r.(?) p.(Asp1866Asn) Unknown - likely benign g.21067061C>T - PI4KA(NM_058004.3):c.5596G>A (p.D1866N) - PI4KA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5676+3A>G r.spl? p.? Unknown - likely benign g.21066978T>C - PI4KA(NM_058004.4):c.5676+3A>G - PI4KA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5676+8C>G r.(=) p.(=) Unknown - likely benign g.21066973G>C g.20712685G>C PI4KA(NM_002650.2):c.1932+8C>G (p.(=)) - PI4KA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5677-10T>C r.(=) p.(=) Unknown - likely benign g.21066909A>G - PI4KA(NM_058004.3):c.5677-10T>C - PI4KA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5935A>G r.(?) p.(Met1979Val) Unknown - VUS g.21065135T>C - PI4KA(NM_058004.4):c.5935A>G (p.(Met1979Val)) - PI4KA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5990C>T r.(?) p.(Thr1997Met) Unknown - VUS g.21065080G>A g.20710792G>A PI4KA(NM_058004.3):c.5990C>T (p.T1997M) - PI4KA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6036C>T r.(?) p.(Pro2012=) Unknown - likely benign g.21065034G>A g.20710746G>A PI4KA(NM_058004.3):c.6036C>T (p.P2012=) - PI4KA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6083+4A>C r.spl? p.? Unknown - VUS g.21064983T>G - PI4KA(NM_058004.4):c.6083+4A>C - PI4KA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6099G>A r.(?) p.(Ala2033=) Unknown - likely benign g.21064270C>T g.20709982C>T PI4KA(NM_058004.3):c.6099G>A (p.A2033=) - PI4KA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6198dup r.(?) p.(Glu2067Ter) Unknown - VUS g.21063643dup - PI4KA(NM_058004.3):c.6198dupT (p.E2067*) - PI4KA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6206A>C r.(?) p.(Glu2069Ala) Unknown - VUS g.21063635T>G g.20709347T>G PI4KA(NM_058004.3):c.6206A>C (p.E2069A) - PI4KA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6285C>G r.(?) p.(Tyr2095Ter) Unknown - VUS g.21062359G>C - PI4KA(NM_058004.4):c.6285C>G (p.Y2095*) - PI4KA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.