Full data view for gene FAM65B

NOTE: gene name changed from FAM65B to RIPOR2
Information The variants shown are described using the NM_014722.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-131085C>A r.(?) p.(=) Unknown - VUS g.25042104G>T - RIPOR2(NM_001286446.2):c.51C>A (p.D17E) - FAM65B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.102-1G>A r.102_257del p.Arg34_Asp86delinsSer Both (homozygous) - pathogenic (recessive) g.24874028C>T g.24873800C>T - - FAM65B_000017 - PubMed: Diaz-Horta 2014, MORL Deafness Variation Database - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES HL family PubMed: Diaz-Horta 2014 4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.258-1G>T r.spl? p.? Unknown - VUS g.24873188C>A g.24872960C>A - - FAM65B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.281C>A r.(?) p.(Thr94Lys) Unknown - likely benign g.24873164G>T - RIPOR2(NM_014722.4):c.281C>A (p.T94K) - FAM65B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.434C>G r.(?) p.(Ala145Gly) Parent #1 - benign g.24865659G>C g.24865431G>C - - FAM65B_000019 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11967003 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.905A>G r.(?) p.(Asn302Ser) Unknown - VUS g.24850072T>C g.24849844T>C RIPOR2(NM_014722.4):c.905A>G (p.N302S) - FAM65B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.958G>A r.(?) p.(Val320Met) Parent #1 - benign g.24848372C>T g.24848144C>T - - FAM65B_000018 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35331811 Germline - 33/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 33 Mohammed Faruq
?/. - c.1065C>G r.(?) p.(Asp355Glu) Unknown - VUS g.24848265G>C g.24848037G>C RIPOR2(NM_014722.4):c.1065C>G (p.D355E) - FAM65B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114C>T r.(?) p.(Leu372=) Unknown - likely benign g.24847883G>A - RIPOR2(NM_014722.4):c.1114C>T (p.L372=) - FAM65B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1544C>A r.(?) p.(Pro515Gln) Unknown - likely benign g.24843466G>T - FAM65B(NM_001286445.1):c.1481C>A (p.(Pro494Gln)) - FAM65B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Unknown - VUS g.24843306_24843317del g.24843078_24843089del RIPOR2(NM_014722.4):c.1696_1707delCAGCTGGTCAAG (p.Q566_K569del) - FAM65B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL FamW97-056 PubMed: de Bruijn 2021 5-generation family, 23 affected (12F, 11M), 3 unaffected heterozygous carriers F;M no Netherlands - - - - - 23 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W02-016 PubMed: de Bruijn 2021 5-generation family, 23 affected (12F, 11M), 3 unaffected heterozygous carriers F no Netherlands - - - - - 23 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W04-262 PubMed: de Bruijn 2021 4-generation family, 10 affected (6F, 4M) F;M no Netherlands - - - - - 10 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W08-1421 PubMed: de Bruijn 2021 4-generation family, 9 affected (6F, 3M) F;M no Netherlands - - - - - 9 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W15-1495 PubMed: de Bruijn 2021 5-generation family, 3 affected (3F) F;M no Netherlands - - - - - 3 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W18-0470 PubMed: de Bruijn 2021 3-generation family, 8 affected (5F, 3M) F;M no Netherlands - - - - - 8 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W18-1004 PubMed: de Bruijn 2021 3-generation family, 3 affected (2F, M) F;M no Netherlands - - - - - 3 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Parent #1 - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W18-0471 PubMed: de Bruijn 2021 2-generation family, affected father/daughter F;M no Netherlands - - - - - 2 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Unknown - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline - - - - - DNA SEQ, SEQ-NG - WES HL W18-0472 PubMed: de Bruijn 2021 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Unknown - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline - - - - - DNA SEQ, SEQ-NG - WES HL W18-0473 PubMed: de Bruijn 2021 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Unknown - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline - - - - - DNA SEQ, SEQ-NG - WES HL W18-1005 PubMed: de Bruijn 2021 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1696_1707del r.(?) p.(Gln566_Lys569del) Unknown - pathogenic (dominant) g.24843306_24843317del g.24843078_24843089del - - FAM65B_000004 - PubMed: de Bruijn 2021 - rs760676508 Germline - - - - - DNA SEQ, SEQ-NG - WES HL W18-1160 PubMed: de Bruijn 2021 - F - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1820C>T r.(?) p.(Ala607Val) Unknown - likely benign g.24843190G>A g.24842962G>A RIPOR2(NM_014722.4):c.1820C>T (p.A607V) - FAM65B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827T>C r.(?) p.(Asn609=) Unknown - likely benign g.24843183A>G g.24842955A>G RIPOR2(NM_014722.4):c.1827T>C (p.N609=) - FAM65B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1884G>A r.(?) p.(Leu628=) Unknown - likely benign g.24843126C>T g.24842898C>T RIPOR2(NM_014722.4):c.1884G>A (p.L628=) - FAM65B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1943G>A r.(?) p.(Ser648Asn) Unknown - VUS g.24839478C>T g.24839250C>T RIPOR2(NM_014722.4):c.1943G>A (p.S648N) - FAM65B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2112G>A r.(?) p.(Ser704=) Unknown - likely benign g.24836090C>T g.24835862C>T RIPOR2(NM_014722.4):c.2112G>A (p.S704=) - FAM65B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2505G>A r.(?) p.(Met835Ile) Unknown - VUS g.24830801C>T g.24830573C>T RIPOR2(NM_014722.4):c.2505G>A (p.M835I) - FAM65B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2729-2A>G r.spl? p.? Unknown - VUS g.24825658T>C - - - FAM65B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2857G>A r.(?) p.(Glu953Lys) Unknown - VUS g.24825528C>T g.24825300C>T RIPOR2(NM_014722.4):c.2857G>A (p.E953K) - FAM65B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3071T>C r.(?) p.(Ile1024Thr) Unknown - VUS g.24809980A>G - RIPOR2(NM_014722.4):c.3071T>C (p.I1024T) - FAM65B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3126A>C r.(?) p.(Ala1042=) Unknown - likely benign g.24806682T>G g.24806454T>G RIPOR2(NM_014722.4):c.3126A>C (p.A1042=) - FAM65B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3193G>A r.(?) p.(Ala1065Thr) Unknown - VUS g.24806615C>T g.24806387C>T RIPOR2(NM_014722.4):c.3193G>A (p.A1065T) - FAM65B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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