Full data view for gene RIPK4

Information The variants shown are described using the NM_020639.2 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     
+?/. - c.28G>T r.(?) p.(Ala10Ser) Unknown - likely pathogenic g.43187174C>A g.41767014C>A - - RIPK4_000033 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-/. - c.35C>G r.(?) p.(Ala12Gly) Unknown - benign g.43187167G>C g.41767007G>C RIPK4(NM_020639.3):c.35C>G (p.A12G) - RIPK4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107T>C r.(?) p.(Val36Ala) Unknown - VUS g.43187095A>G - RIPK4(NM_020639.3):c.107T>C (p.V36A) - RIPK4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159G>A r.(?) p.(Ser53=) Unknown - benign g.43187043C>T g.41766883C>T RIPK4(NM_020639.3):c.159G>A (p.S53=) - RIPK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182+10C>T r.(=) p.(=) Unknown - likely benign g.43187010G>A - RIPK4(NM_020639.3):c.182+10C>T - RIPK4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>T r.(?) p.(Arg79Cys) Unknown - VUS g.43176924G>A - RIPK4(NM_020639.3):c.235C>T (p.(Arg79Cys)) - RIPK4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.242T>A r.(?) p.(Ile81Asn) Both (homozygous) - pathogenic (recessive) g.43176917A>T g.41756757A>T - - RIPK4_000024 - PubMed: Mitchell 2012 - - Germline - - - - - DNA SEQ - - BPS patient;Pat2 PubMed: Shanske 2004, PubMed: Mitchell 2012 2-generation family, 2 affected fetuses (F, M), unaffected parents F;M yes Gambia - - - - - 1 Johan den Dunnen
+/. - c.362T>A r.(?) p.(Ile121Asn) Both (homozygous) - pathogenic (recessive) g.43176797A>T g.41756637A>T - - RIPK4_000018 - PubMed: Kalay 2012 - - Germline - - - - - DNA SEQ - - ? Fam1PatVI3 PubMed: Kalay 2012 6-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 6 Johan den Dunnen
+/. - c.362T>A r.(?) p.(Ile121Asn) Both (homozygous) - pathogenic (recessive) g.43176797A>T g.41756637A>T - - RIPK4_000018 - PubMed: Kalay 2012 - - Germline - - - - - DNA SEQ - - ? Fam1PatV12 PubMed: Kalay 2012 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.481G>C r.(?) p.(Asp161His) Both (homozygous) - pathogenic (recessive) g.43171399C>G g.41751239C>G - - RIPK4_000015 - PubMed: Dincer 2021 - - Germline - - - - - DNA SEQ blood - BPS FamPatV2 PubMed: Dincer 2021 5-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives - yes Turkey - - - - - 2 Bayram Toraman
?/. - c.494C>T r.(?) p.(Ala165Val) Unknown - VUS g.43171386G>A - RIPK4(NM_020639.3):c.494C>T (p.(Ala165Val)) - RIPK4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.551C>T r.(?) p.(Thr184Ile) Both (homozygous) - pathogenic (recessive) g.43171329G>A g.41751169G>A - - RIPK4_000017 - PubMed: Kalay 2012 - - Germline - - - - - DNA SEQ - - ? Fam2PatIV1 PubMed: Kalay 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - 57d - - - 1 Johan den Dunnen
+/. - c.566C>T r.(?) p.(Pro189Leu) Both (homozygous) - pathogenic (recessive) g.43171314G>A g.41751154G>A - - RIPK4_000028 - PubMed: Leslie 2015 - - Germline - - - - - DNA SEQ - - BPS BPS1 PubMed: Leslie 2015 2-generation family, 1 affected/1 affected fetus, unaffected heterozygous carrier first-cousin parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.621C>G r.(?) p.(Tyr207Ter) Unknown - pathogenic g.43171259G>C g.41751099G>C RIPK4(NM_020639.3):c.621C>G (p.Y207*) - RIPK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.630G>A r.(?) p.(Ala210=) Unknown - benign g.43169357C>T g.41749197C>T RIPK4(NM_020639.3):c.630G>A (p.A210=) - RIPK4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739G>A r.(?) p.(Val247Met) Unknown - likely benign g.43166866C>T g.41746706C>T RIPK4(NM_020639.2):c.739G>A (p.(Val247Met)) - RIPK4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.777dup r.(?) p.(Arg260Thrfs*14) Both (homozygous) - pathogenic (recessive) g.43166828dup g.41746668dup 777_778insA - RIPK4_000016 - PubMed: Kalay 2012 - - Germline - - - - - DNA SEQ - - ? Fam3PatIV1 PubMed: Kalay 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - 3m15d - - - 1 Johan den Dunnen
-?/. - c.832+2T>C r.spl? p.? Unknown - likely benign g.43166771A>G - RIPK4(NM_020639.3):c.832+2T>C - RIPK4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.850G>A r.(?) p.(Glu284Lys) Parent #1 - pathogenic g.43166005C>T g.41745845C>T - - RIPK4_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199835696 Germline - 1/2763 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.850G>A r.(?) p.(Glu284Lys) Both (homozygous) - pathogenic (recessive) g.43166005C>T g.41745845C>T - - RIPK4_000014 - PubMed: Busa 2017 - - Germline - - - - - DNA SEQ - - CHANDS Pat2 PubMed: Busa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.850G>A r.(?) p.(Glu284Lys) Both (homozygous) - pathogenic (recessive) g.43166005C>T g.41745845C>T - - RIPK4_000014 - PubMed: Gollasch 2015 - - Germline yes - - - - DNA SEQ - - CHANDS family 5-generation family, 3 affected (2f, M), unaffected heterozygous carrier parents/relatives PubMed: Gollasch 2015 F;M yes Kuwait - - - - - 3 Johan den Dunnen
+?/. - c.907G>A r.(?) p.(Val303Met) Unknown - likely pathogenic g.43165948C>T g.41745788C>T - - RIPK4_000032 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1074dup r.(1074dup) p.(Glu359Ter) Both (homozygous) - pathogenic (recessive) g.43164163dup g.41744003dup 1074dupT - RIPK4_000026 - PubMed: Busa 2017 - - Germline - - - - - DNA SEQ - - BPS Pat1 PubMed: Busa 2017 2-generation family, affected fetus (17w), unaffected heterozygous carrier parents F yes Morocco - <00y00m00d - - - 1 Johan den Dunnen
-?/. - c.1100G>T r.(?) p.(Ser367Ile) Unknown - likely benign g.43164137C>A - RIPK4(NM_020639.3):c.1100G>T (p.(Ser367Ile)) - RIPK4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1127C>A r.(?) p.(Ser376*) Both (homozygous) - pathogenic (recessive) g.43164110G>T g.41743950G>T - - RIPK4_000023 - PubMed: Mitchell 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - WES BPS patient PubMed: Mitchell 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.1198C>G r.(?) p.(Leu400Val) Unknown - likely benign g.43162155G>C g.41741995G>C RIPK4(NM_020639.2):c.1198C>G (p.L400V, p.(Leu400Val)) - RIPK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198C>G r.(?) p.(Leu400Val) Unknown - likely benign g.43162155G>C g.41741995G>C RIPK4(NM_020639.2):c.1198C>G (p.L400V, p.(Leu400Val)) - RIPK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1342G>C r.(?) p.(Ala448Pro) Both (homozygous) - pathogenic (recessive) g.43162011C>G g.41741851C>G - - RIPK4_000027 - PubMed: Leslie 2015 - - Germline - - - - - DNA SEQ - - PPS PPS3 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
?/. - c.1729G>A r.(?) p.(Ala577Thr) Unknown - VUS g.43161624C>T g.41741464C>T RIPK4(NM_020639.2):c.1729G>A (p.A577T) - RIPK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1853G>A r.(?) p.(Arg618His) Maternal (confirmed) - pathogenic (recessive) g.43161500C>T g.41741340C>T - - RIPK4_000025 maternal isodisomy chromosome 21 PubMed: Leslie 2015 - - Uniparental disomy, maternal allele - - - - - DNA SEQ - - PPS PPS2 PubMed: Leslie 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - 1 Johan den Dunnen
+/. - c.1853G>A r.(?) p.(Arg618His) Both (homozygous) - pathogenic (recessive) g.43161500C>T g.41741340C>T - - RIPK4_000025 - PubMed: Leslie 2015 - - Germline - - - - - DNA SEQ - - BPS BPS2 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.1853G>A r.(?) p.(Arg618His) Maternal (confirmed) - pathogenic (recessive) g.43161500C>T g.41741340C>T - - RIPK4_000025 - - - - Germline - - - - - DNA SEQ - - PPS PPS2 PubMed: Leslie 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - 1 Johan den Dunnen
-/. - c.1884C>T r.(?) p.(Ser628=) Unknown - benign g.43161469G>A g.41741309G>A RIPK4(NM_020639.2):c.1884C>T (p.S628=) - RIPK4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1884C>T r.(=) p.(=) Parent #1 - VUS g.43161469G>A g.41741309G>A - - RIPK4_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55812846 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.1996A>G r.(?) p.(Met666Val) Unknown - benign g.43161357T>C g.41741197T>C RIPK4(NM_020639.3):c.1996A>G (p.M666V) - RIPK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2242G>A r.(?) p.(Ala748Thr) Unknown - likely benign g.43161111C>T g.41740951C>T RIPK4(NM_020639.2):c.2242G>A (p.A748T) - RIPK4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2323G>A r.(?) p.(Ala775Thr) Unknown - likely benign g.43161030C>T g.41740870C>T RIPK4(NM_020639.2):c.2323G>A (p.A775T) - RIPK4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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