Full data view for gene LPIN2

Information The variants shown are described using the NM_014646.2 transcript reference sequence.

111 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.4A>G r.(?) p.(Asn2Asp) Unknown - VUS g.2960835T>C - LPIN2(NM_014646.2):c.4A>G (p.N2D) - LPIN2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91A>C r.(?) p.(Ile31Leu) Unknown - VUS g.2960748T>G - LPIN2(NM_014646.2):c.91A>C (p.(Ile31Leu)) - LPIN2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(His49=) Unknown - likely benign g.2960692G>A - LPIN2(NM_014646.2):c.147C>T (p.H49=) - LPIN2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192+3G>A r.spl? p.? Unknown - likely benign g.2960644C>T - LPIN2(NM_014646.2):c.192+3G>A - LPIN2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192+17A>G r.(=) p.(=) Unknown - likely benign g.2960630T>C - LPIN2(NM_014646.2):c.192+17A>G - LPIN2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192+134del r.(=) p.(=) Unknown - benign g.2960525del g.2960527del LPIN2(NM_014646.2):c.192+134delT - LPIN2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206T>C r.(?) p.(Ile69Thr) Unknown - VUS g.2954584A>G g.2954586A>G LPIN2(NM_014646.2):c.206T>C (p.I69T) - LPIN2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206T>C r.(?) p.(Ile69Thr) Unknown - VUS g.2954584A>G g.2954586A>G LPIN2(NM_014646.2):c.206T>C (p.I69T) - LPIN2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280G>A r.(?) p.(Glu94Lys) Unknown - likely benign g.2954510C>T - LPIN2(NM_014646.2):c.280G>A (p.E94K) - LPIN2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353T>C r.(?) p.(Ile118Thr) Unknown - likely benign g.2951290A>G g.2951292A>G LPIN2(NM_014646.2):c.353T>C (p.I118T) - LPIN2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359C>A r.(?) p.(Thr120Asn) Unknown - likely benign g.2951284G>T - LPIN2(NM_014646.2):c.359C>A (p.T120N) - LPIN2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.432_433del r.(?) p.(Glu144Aspfs*23) Unknown - likely pathogenic g.2951213_2951214del - LPIN2(NM_014646.2):c.432_433del (p.(Glu144Aspfs*23)) - LPIN2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435A>G r.(?) p.(Thr145=) Unknown - likely benign g.2951208T>C - LPIN2(NM_014646.2):c.435A>G (p.T145=) - LPIN2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446C>T r.(?) p.(Pro149Leu) Unknown - VUS g.2951197G>A g.2951199G>A LPIN2(NM_014646.2):c.446C>T (p.P149L) - LPIN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.446C>T r.(?) p.(Pro149Leu) Unknown - likely pathogenic g.2951197G>A g.2951199G>A - - LPIN2_000045 - PubMed: Gernez 2019 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.446C>T r.(?) p.(Pro149Leu) Unknown - likely benign g.2951197G>A - LPIN2(NM_014646.2):c.446C>T (p.P149L) - LPIN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.446C>T r.(?) p.(Pro149Leu) Unknown - likely benign g.2951197G>A - LPIN2(NM_014646.2):c.446C>T (p.P149L) - LPIN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590+6A>G r.(=) p.(=) Unknown - likely benign g.2951047T>C - LPIN2(NM_014646.2):c.590+6A>G (p.(=)) - LPIN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.590+6A>G r.(=) p.(=) Unknown - benign g.2951047T>C - LPIN2(NM_014646.2):c.590+6A>G (p.(=)) - LPIN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591-19T>G r.(=) p.(=) Unknown - likely benign g.2940729A>C g.2940731A>C LPIN2(NM_014646.2):c.591-19T>G - LPIN2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608C>T r.(?) p.(Ser203Phe) Unknown - likely benign g.2940693G>A g.2940695G>A LPIN2(NM_014646.2):c.608C>T (p.S203F) - LPIN2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622_624del r.(?) p.(Glu208del) Unknown - VUS g.2940685_2940687del - LPIN2(NM_001375808.2):c.622_624del (p.(Glu208del)) - LPIN2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642C>G r.(?) p.(Leu214=) Unknown - likely benign g.2940659G>C g.2940661G>C LPIN2(NM_014646.2):c.642C>G (p.L214=) - LPIN2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650C>T r.(?) p.(Ser217Phe) Unknown - VUS g.2940651G>A g.2940653G>A LPIN2(NM_014646.2):c.650C>T (p.S217F) - LPIN2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698C>T r.(?) p.(Thr233Ile) Unknown - likely benign g.2940603G>A - LPIN2(NM_014646.2):c.698C>T (p.T233I) - LPIN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698+20_698+22del r.(=) p.(=) Unknown - likely benign g.2940583_2940585del g.2940585_2940587del LPIN2(NM_014646.2):c.698+20_698+22delCTT - LPIN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838C>A r.(?) p.(Arg280=) Unknown - likely benign g.2938020G>T - LPIN2(NM_014646.2):c.838C>A (p.R280=) - LPIN2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884A>G r.(?) p.(Asn295Ser) Unknown - VUS g.2937974T>C - LPIN2(NM_014646.2):c.884A>G (p.N295S) - LPIN2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.991G>T r.(?) p.(Ala331Ser) Unknown - likely benign g.2937867C>A g.2937869C>A LPIN2(NM_014646.2):c.991G>T (p.A331S) - LPIN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.991G>T r.(?) p.(Ala331Ser) Unknown - likely benign g.2937867C>A g.2937869C>A LPIN2(NM_014646.2):c.991G>T (p.A331S) - LPIN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043C>T r.(?) p.(Pro348Leu) Unknown - likely benign g.2937815G>A g.2937817G>A LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu)) - LPIN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043C>T r.(?) p.(Pro348Leu) Unknown - likely benign g.2937815G>A g.2937817G>A LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu)) - LPIN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043C>T r.(?) p.(Pro348Leu) Unknown - likely benign g.2937815G>A g.2937817G>A LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu)) - LPIN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109C>T r.(?) p.(Ala370Val) Unknown - likely benign g.2937749G>A - LPIN2(NM_014646.2):c.1109C>T (p.A370V) - LPIN2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132C>T r.(?) p.(Pro378Ser) Unknown - likely benign g.2937726G>A - LPIN2(NM_014646.2):c.1132C>T (p.P378S) - LPIN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1159A>G r.(?) p.(Lys387Glu) Unknown - VUS g.2937699T>C g.2937701T>C LPIN2(NM_014646.2):c.1159A>G (p.(Lys387Glu), p.K387E) - LPIN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159A>G r.(?) p.(Lys387Glu) Unknown - likely benign g.2937699T>C g.2937701T>C LPIN2(NM_014646.2):c.1159A>G (p.(Lys387Glu), p.K387E) - LPIN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159A>G r.(?) p.(Lys387Glu) Parent #1 - likely benign g.2937699T>C g.2937701T>C - - LPIN2_000019 139 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895501 Germline - 139/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 139 Mohammed Faruq
-?/. - c.1159A>G r.(?) p.(Lys387Glu) Both (homozygous) - likely benign g.2937699T>C g.2937701T>C - - LPIN2_000019 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895501 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1168+6C>T r.(=) p.(=) Unknown - likely benign g.2937684G>A g.2937686G>A LPIN2(NM_014646.2):c.1168+6C>T - LPIN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1168+6C>T r.(=) p.(=) Unknown - likely benign g.2937684G>A - LPIN2(NM_014646.2):c.1168+6C>T - LPIN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1168+7G>A r.(=) p.(=) Unknown - likely benign g.2937683C>T g.2937685C>T LPIN2(NM_014646.2):c.1168+7G>A - LPIN2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169-7del r.(=) p.(=) Unknown - likely benign g.2934464del g.2934466del LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT - LPIN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1169-7del r.(=) p.(=) Unknown - benign g.2934464del g.2934466del LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT - LPIN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169-7del r.(=) p.(=) Unknown - likely benign g.2934464del g.2934466del LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT - LPIN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169-7dup r.(=) p.(=) Unknown - likely benign g.2934464dup - LPIN2(NM_014646.2):c.1169-7dup (p.(=)) - LPIN2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169-3C>T r.spl? p.? Unknown - likely benign g.2934451G>A g.2934453G>A LPIN2(NM_014646.2):c.1169-3C>T - LPIN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169-3C>T r.spl? p.? Unknown - likely benign g.2934451G>A g.2934453G>A LPIN2(NM_014646.2):c.1169-3C>T - LPIN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427G>A r.(?) p.(Gly476Asp) Unknown - VUS g.2931283C>T - LPIN2(NM_001375808.2):c.1427G>A (p.(Gly476Asp)) - LPIN2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1456+29A>G r.(=) p.(=) Unknown - benign g.2931225T>C g.2931227T>C LPIN2(NM_014646.2):c.1456+29A>G - LPIN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485T>C r.(?) p.(Tyr495=) Unknown - likely benign g.2929128A>G g.2929130A>G LPIN2(NM_014646.2):c.1485T>C (p.Y495=) - LPIN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1489G>A r.(?) p.(Glu497Lys) Parent #1 - VUS g.2929124C>T g.2929126C>T - - LPIN2_000048 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201325845 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-?/. - c.1510C>T r.(?) p.(Leu504Phe) Unknown - likely benign g.2929103G>A g.2929105G>A LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F) - LPIN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1510C>T r.(?) p.(Leu504Phe) Parent #1 - VUS g.2929103G>A g.2929105G>A - - LPIN2_000015 conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895500 Germline - 17/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-?/. - c.1510C>T r.(?) p.(Leu504Phe) Unknown - likely benign g.2929103G>A - LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F) - LPIN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1510C>T r.(?) p.(Leu504Phe) Unknown - likely benign g.2929103G>A - LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F) - LPIN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1510C>T r.(?) p.(Leu504Phe) Unknown - VUS g.2929103G>A - LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F) - LPIN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1514T>C r.(?) p.(Ile505Thr) Unknown - VUS g.2929099A>G g.2929101A>G LPIN2(NM_014646.2):c.1514T>C (p.I505T) - LPIN2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1620+16del r.(=) p.(=) Unknown - likely benign g.2928573del g.2928575del LPIN2(NM_014646.2):c.1620+16delA - LPIN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1621-20C>T r.(=) p.(=) Unknown - likely benign g.2927829G>A g.2927831G>A LPIN2(NM_014646.2):c.1621-20C>T - LPIN2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1663T>G r.(?) p.(Ser555Ala) Unknown - VUS g.2927767A>C - LPIN2(NM_014646.2):c.1663T>G (p.S555A) - LPIN2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735T>C r.(?) p.(Ser579Pro) Unknown - likely benign g.2926779A>G g.2926781A>G LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P) - LPIN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735T>C r.(?) p.(Ser579Pro) Unknown - likely benign g.2926779A>G g.2926781A>G LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P) - LPIN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735T>C r.(?) p.(Ser579Pro) Unknown - likely benign g.2926779A>G - LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P) - LPIN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1758C>T r.(?) p.(Asp586=) Unknown - likely benign g.2926756G>A g.2926758G>A LPIN2(NM_014646.2):c.1758C>T (p.D586=) - LPIN2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1793+17C>T r.(=) p.(=) Unknown - likely benign g.2926704G>A g.2926706G>A LPIN2(NM_014646.2):c.1793+17C>T - LPIN2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1801G>A r.(?) p.(Glu601Lys) Unknown - benign g.2925359C>T g.2925361C>T LPIN2(NM_014646.2):c.1801G>A (p.(Glu601Lys), p.E601K) - LPIN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1801G>A r.(?) p.(Glu601Lys) Unknown - likely benign g.2925359C>T g.2925361C>T LPIN2(NM_014646.2):c.1801G>A (p.(Glu601Lys), p.E601K) - LPIN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1867C>T r.(?) p.(Pro623Ser) Unknown - benign g.2925293G>A g.2925295G>A LPIN2(NM_014646.2):c.1867C>T (p.P623S) - LPIN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1876C>T r.(?) p.(Pro626Ser) Unknown - likely benign g.2925284G>A g.2925286G>A LPIN2(NM_014646.2):c.1876C>T (p.(Pro626Ser), p.P626S) - LPIN2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1876C>T r.(?) p.(Pro626Ser) Unknown - likely benign g.2925284G>A - LPIN2(NM_014646.2):c.1876C>T (p.(Pro626Ser), p.P626S) - LPIN2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1887C>T r.(?) p.(His629=) Unknown - likely benign g.2925273G>A g.2925275G>A LPIN2(NM_014646.2):c.1887C>T (p.H629=) - LPIN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1888G>A r.(?) p.(Gly630Ser) Unknown - likely benign g.2925272C>T - LPIN2(NM_014646.2):c.1888G>A (p.(Gly630Ser)) - LPIN2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1907A>T r.(?) p.(Lys636Met) Unknown - VUS g.2925253T>A - LPIN2(NM_014646.2):c.1907A>T (p.K636M) - LPIN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1939-14T>C r.(=) p.(=) Unknown - VUS g.2924558A>G - - - LPIN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1939-2del r.spl? p.? Unknown - likely benign g.2924549del - LPIN2(NM_014646.2):c.1939-2delA - LPIN2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088-10G>A r.(=) p.(=) Unknown - likely benign g.2923869C>T - LPIN2(NM_014646.2):c.2088-10G>A - LPIN2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2088-6T>C r.(=) p.(=) Unknown - benign g.2923865A>G g.2923867A>G LPIN2(NM_014646.2):c.2088-6T>C - LPIN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2171A>G r.(?) p.(Asn724Ser) Unknown - VUS g.2923776T>C - LPIN2(NM_014646.2):c.2171A>G (p.N724S) - LPIN2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2174+10C>T r.(=) p.(=) Unknown - VUS g.2923763G>A g.2923765G>A LPIN2(NM_014646.2):c.2174+10C>T - LPIN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2175-63del r.(=) p.(=) Unknown - benign g.2922269del g.2922271del LPIN2(NM_014646.2):c.2175-63delT - LPIN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2175-46dup r.(=) p.(=) Unknown - likely benign g.2922246dup g.2922248dup LPIN2(NM_014646.2):c.2175-46dupT - LPIN2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2223C>T r.(=) p.(=) Parent #1 - VUS g.2922149G>A g.2922151G>A - - LPIN2_000047 conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17555442 Germline - 15/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.2223C>T r.(?) p.(Ala741=) Unknown - likely benign g.2922149G>A - LPIN2(NM_001375808.2):c.2223C>T (p.(Ala741=)) - LPIN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2224G>A r.(?) p.(Asp742Asn) Unknown - VUS g.2922148C>T g.2922150C>T LPIN2(NM_014646.2):c.2224G>A (p.D742N) - LPIN2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2243T>C r.(?) p.(Leu748Pro) Unknown - likely pathogenic g.2922129A>G g.2922131A>G NM_014646.2(LPIN2):c.2243T>C p.(Leu748Pro) - chr18_000224 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-135A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-/. - c.2316C>T r.(?) p.(Ser772=) Unknown - benign g.2922056G>A g.2922058G>A LPIN2(NM_014646.2):c.2316C>T (p.S772=) - LPIN2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2316C>T r.(?) p.(Ser772=) Unknown - likely benign g.2922056G>A g.2922058G>A LPIN2(NM_014646.2):c.2316C>T (p.S772=) - LPIN2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2317G>A r.(?) p.(Ala773Thr) Unknown - VUS g.2922055C>T - LPIN2(NM_001375808.2):c.2317G>A (p.(Ala773Thr)) - LPIN2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2327+11G>A r.(=) p.(=) Unknown - likely benign g.2922034C>T g.2922036C>T LPIN2(NM_014646.2):c.2327+11G>A - LPIN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2328-13A>T r.(=) p.(=) Unknown - likely benign g.2921658T>A g.2921660T>A LPIN2(NM_014646.2):c.2328-13A>T - LPIN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2442+17C>T r.(=) p.(=) Unknown - likely benign g.2921514G>A - LPIN2(NM_014646.2):c.2442+17C>T - LPIN2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2443-137G>T r.(=) p.(=) Unknown - benign g.2921016C>A g.2921018C>A LPIN2(NM_014646.2):c.2443-137G>T - LPIN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2443-9C>T r.(=) p.(=) Unknown - likely benign g.2920888G>A - LPIN2(NM_001375808.2):c.2443-9C>T - LPIN2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2443-4G>A r.spl? p.? Unknown - likely benign g.2920883C>T - LPIN2(NM_014646.2):c.2443-4G>A - LPIN2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2492C>T r.(?) p.(Thr831Ile) Unknown - VUS g.2920830G>A - LPIN2(NM_014646.2):c.2492C>T (p.T831I) - LPIN2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2502C>G r.(?) p.(Pro834=) Unknown - likely benign g.2920820G>C g.2920822G>C LPIN2(NM_014646.2):c.2502C>G (p.P834=) - LPIN2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2546+145T>C r.(=) p.(=) Unknown - likely benign g.2920631A>G g.2920633A>G LPIN2(NM_014646.2):c.2546+145T>C - LPIN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2610C>T r.(?) p.(Ser870=) Unknown - likely benign g.2920372G>A - LPIN2(NM_014646.2):c.2610C>T (p.S870=) - LPIN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2621G>A r.(?) p.(Cys874Tyr) Unknown - VUS g.2920361C>T - LPIN2(NM_014646.2):c.2621G>A (p.(Cys874Tyr)) - LPIN2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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