Full data view for gene IVD

Information The variants shown are described using the NM_002225.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.153+317T>C r.(=) p.(=) Unknown - VUS g.40698489T>C - IVD(NM_001354597.2):c.34T>C (p.Y12H) - IVD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.157C>T r.154_243del p.Leu52_Arg81del Paternal (confirmed) - pathogenic g.40699840C>T g.40407639C>T c.148C>T;p.Arg21Cys - IVD_000010 - PubMed: Vockley et al (2000) - rs34695403 Germline - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
+/+? 2 c.158G>C r.154_243del p.Leu52_Arg81del Both (homozygous) - pathogenic g.40699841G>C g.40407640G>C c.149G>C;p.Arg21Pro - IVD_000006 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
+/+? 2 c.158G>C r.154_243del p.Leu52_Arg81del Parent #1 - pathogenic g.40699841G>C g.40407640G>C c.149G>C;p.Arg21Pro - IVD_000006 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
-?/. - c.173A>T r.(?) p.(Lys58Met) Unknown - likely benign g.40699856A>T - IVD(NM_001354597.2):c.116A>T (p.K39M) - IVD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.214G>A r.[214g>a; 154_243del] p.[Asp72Asn; Leu52_Arg81del] Unknown - pathogenic g.40699897G>A g.40407696G>A c.205G>A;p.Asp40Asn - IVD_000005 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
?/. - c.223A>C r.(?) p.(Asn75His) Unknown - VUS g.40699906A>C - - - IVD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238C>T r.(?) p.(Leu80=) Unknown - likely benign g.40699921C>T - IVD(NM_001354597.2):c.181C>T (p.L61=) - IVD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243+14T>C r.(=) p.(=) Unknown - benign g.40699940T>C g.40407739T>C IVD(NM_002225.4):c.234+14T>C, IVD(NM_002225.5):c.234+14T>C - IVD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.243+14T>C r.(=) p.(=) Unknown - benign g.40699940T>C g.40407739T>C IVD(NM_002225.4):c.234+14T>C, IVD(NM_002225.5):c.234+14T>C - IVD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.243+14T>C r.(=) p.(=) Unknown - benign g.40699940T>C - IVD(NM_002225.4):c.234+14T>C, IVD(NM_002225.5):c.234+14T>C - IVD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244-18G>A r.(=) p.(=) Unknown - benign g.40700120G>A g.40407921G>A IVD(NM_002225.4):c.235-18G>A - IVD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295+5G>A r.spl? p.? Unknown - pathogenic g.40700194G>A - - - IVD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367G>A r.(?) p.(Gly123Arg) Parent #1 - likely pathogenic g.40702898G>A g.40410699G>A - - IVD_000031 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142761835 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/+? 5i c.465+1G>A r.296_465del p.Val99Alafs*5 Unknown - pathogenic g.40702997G>A g.40410798G>A Exon 4 +1G>A - IVD_000004 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
+/+? 4i c.465+2T>C r.0 p.0? Both (homozygous) - pathogenic g.40702998T>C g.40410799T>C Exon 4 +2T>C - IVD_000008 No IVD RNA found PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
+/+? 4i c.466-2A>G r.0 p.0? Parent #1 - pathogenic g.40703457A>G g.40411258A>G Exon 5 -2A>G - IVD_000011 No IVD RNA found PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) Other IVD allele unknown; no RNA detected but no second variant found in exon region or exon/intron boundaries. - - - - - - - - 1 Ivo F.A.C. Fokkema
-/. - c.560-18C>T r.(=) p.(=) Unknown - benign g.40703736C>T g.40411537C>T IVD(NM_002225.4):c.551-18C>T - IVD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.560-2A>G r.spl? p.? Unknown - likely pathogenic g.40703752A>G - IVD(NM_002225.4):c.551-2A>G - IVD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.605G>T r.605g>u p.Gly202Val Maternal (inferred) - pathogenic g.40703799G>T g.40411600G>T c.596G>T;p.Gly170Val - IVD_000009 - PubMed: Vockley et al (2000) - rs121434285 Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
-/. - c.732C>T r.(?) p.(Asp244=) Unknown - benign g.40705225C>T g.40413026C>T IVD(NM_002225.4):c.723C>T (p.D241=) - IVD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 7i c.794-1G>A r.794_795insacuuauccuggcaac p.Ala265_Ala266insLeuIleLeuAlaThr Parent #2 - pathogenic g.40707087G>A g.40414888G>A Exon 8 -1G>A - IVD_000003 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
?/? 8 c.860G>A r.(860g>a) p.(Arg287Gln) Unknown - VUS g.40707154G>A g.40414955G>A - - IVD_000001 - - - - Unknown - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.874G>A r.(?) p.(Gly292Arg) Both (homozygous) - pathogenic g.40707168G>A g.40414969G>A - - IVD_000021 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/+? 8 c.879dup r.[879dup;794_887del] p.[Pro294Alafs*38; Ala265Glyfs*16] Parent #2 - pathogenic g.40707173dup g.40414974dup Insertion G870 - IVD_000007 - PubMed: Vockley et al (2000) - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
-?/. - c.900G>A r.(?) p.(Ala300=) Unknown - likely benign g.40707612G>A g.40415413G>A IVD(NM_002225.4):c.891G>A (p.A297=) - IVD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 9 c.941C>T r.941c>u p.Ala314Val Parent #1 - pathogenic g.40707653C>T g.40415454C>T c.932C>T;p.Ala282Val - IVD_000002 Shows residual enzyme activity PubMed: Vockley et al (2000) - rs28940889 Unknown - - - - - DNA, RNA RT-PCR, SEQ - - IVA - PubMed: Vockley et al (2000) - - - - - - - - - 1 Ivo F.A.C. Fokkema
+?/. - c.941C>T r.(?) p.(Ala314Val) Unknown - likely pathogenic g.40707653C>T g.40415454C>T IVD(NM_001354597.2):c.884C>T (p.A295V) - IVD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.941C>T r.(?) p.(Ala314Val) Parent #1 - pathogenic g.40707653C>T g.40415454C>T - - IVD_000002 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28940889 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.941C>T r.(?) p.(Ala314Val) Unknown - VUS g.40707653C>T - IVD(NM_001354597.2):c.884C>T (p.A295V) - IVD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970T>C r.(?) p.(Leu324=) Unknown - likely benign g.40708277T>C - IVD(NM_001354599.2):c.1046T>C (p.L349P) - IVD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1075-5C>T r.spl? p.? Unknown - benign g.40708484C>T g.40416285C>T IVD(NM_002225.4):c.1066-5C>T - IVD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1184G>A r.(?) p.(Arg395His) Unknown - pathogenic g.40710365G>A g.40418166G>A IVD(NM_002225.5):c.1175G>A (p.R392H) - IVD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1188del) r.(1188del) p.(Leu397Phefs*9) Unknown - NA g.40710369del g.40418170del c.1179del - IVD_000012 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1222_1278del) r.(1222_1278del) p.(Gly408*) Unknown - NA g.40710403_40710459del g.40418204_40418260del DEL19 - IVD_000020 No IVD activity PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1231_1278del) r.(1231_1278del) p.(Glu411*) Unknown - NA g.40710412_40710459del g.40418213_40418260del DEL16 - IVD_000019 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1240_1278del) r.(1240_1278del) p.(Arg414*) Unknown - NA g.40710421_40710459del g.40418222_40418260del DEL13 - IVD_000018 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1249_1278del) r.(1249_1278del) p.(Ile417*) Unknown - NA g.40710430_40710459del g.40418231_40418260del DEL10 - IVD_000017 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1251C>G r.(?) p.(Ile417Met) Unknown - VUS g.40710432C>G g.40418233C>G IVD(NM_001354597.2):c.1194C>G (p.I398M) - IVD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1252_1278del) r.(1252_1278del) p.(Gly418*) Unknown - NA g.40710433_40710459del g.40418234_40418260del DEL9 - IVD_000016 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1258_1278del) r.(1258_1278del) p.(Ala420*) Unknown - NA g.40710439_40710459del g.40418240_40418260del DEL7 - IVD_000015 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+? 12 c.(1264_1278del) r.(1264_1278del) p.(Asn422*) Unknown - NA g.40710445_40710459del g.40418246_40418260del DEL5 - IVD_000014 No IVD activity found PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 12 c.(1276_1278del) r.(1276_1278del) p.(His426*) Unknown - NA g.40710457_40710459del g.40418258_40418260del DEL1 - IVD_000013 Shows residual enzyme activity PubMed: Volchenboum et al (2000) - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*14C>T r.(=) p.(=) Unknown - benign g.40710476C>T g.40418277C>T IVD(NM_002225.4):c.*14C>T - IVD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*17313C>T r.(=) p.(=) Unknown - VUS g.40727775C>T - IVD(NM_001354601.2):c.1298C>T (p.S433L) - IVD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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