Unique variants in the HDHD1 gene

Information The variants shown are described using the NM_012080.4 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-3411212_*1219555del r.0? p.0? ACMG VUS g.5748782_10477366del g.5830745_10559329del 1 more item - NLGN4X_000080 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
-?/. 1 - c.-202142G>C r.(?) p.(=) - likely benign g.7268296C>G g.7350255C>G STS(NM_000351.4):c.1746C>G (p.(Ser582Arg)) - STS_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-201953G>A r.(?) p.(=) - likely benign g.7268107C>T - STS(NM_001320750.1):c.1578C>T (p.S526=) - STS_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-201918C>G r.(?) p.(=) - VUS g.7268072G>C g.7350031G>C STS(NM_000351.5):c.1522G>C (p.D508H) - STS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-201887G>A r.(?) p.(=) - likely benign g.7268041C>T g.7350000C>T STS(NM_000351.5):c.1491C>T (p.H497=) - STS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-201805G>A r.(?) p.(=) - VUS g.7267959C>T - STS(NM_000351.4):c.1409C>T (p.(Thr470Ile)) - STS_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-185886G>A r.(?) p.(=) - VUS g.7252040C>T - STS(NM_001320750.1):c.1291C>T (p.R431C) - STS_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-177390A>C r.(?) p.(=) - likely benign g.7243544T>G g.7325503T>G STS(NM_000351.4):c.1256+5T>G (p.?) - STS_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-177382T>C r.(?) p.(=) - likely benign g.7243536A>G g.7325495A>G STS(NM_000351.5):c.1253A>G (p.D418G) - STS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-177353G>T r.(?) p.(=) - likely benign g.7243507C>A - STS(NM_001320750.1):c.1245C>A (p.A415=) - STS_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-177290C>T r.(?) p.(=) - likely benign g.7243444G>A g.7325403G>A STS(NM_001320750.1):c.1182G>A (p.V394=) - STS_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-177277C>T r.(?) p.(=) - VUS g.7243431G>A - STS(NM_001320750.1):c.1169G>A (p.R390H) - STS_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.-177268C>G r.(?) p.(=) - likely benign g.7243422G>C g.7325381G>C STS(NM_001320750.1):c.1160G>C (p.G387A), STS(NM_001320750.3):c.1160G>C (p.G387A) - STS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.-177259C>T r.(?) p.(=) - VUS g.7243413G>A g.7325372G>A STS(NM_000351.5):c.1130G>A (p.R377Q) - STS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.-177234C>G r.(?) p.(=) - likely pathogenic, VUS g.7243388G>C g.7325347G>C STS(NM_001320750.3):c.1126G>C (p.A376P) - STS_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.-156923A>G r.(?) p.(=) - likely benign g.7223077T>C - STS(NM_001320750.1):c.980-10T>C - STS_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-127935C>T r.(?) p.(=) - likely benign g.7194089G>A g.7276048G>A STS(NM_000351.4):c.919G>A (p.(Val307Ile)) - STS_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-127853C>T r.(?) p.(=) - likely benign g.7194007G>A - STS(NM_001320750.1):c.858G>A (p.P286=) - STS_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-127835G>A r.(?) p.(=) - likely benign g.7193989C>T g.7275948C>T STS(NM_000351.4):c.822-3C>T (p.?) - STS_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-127834C>A r.(?) p.(=) - likely benign g.7193988G>T g.7275947G>T STS(NM_000351.4):c.822-4G>T (p.?) - STS_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-127817del r.(?) p.(=) - benign g.7193987del - STS(NM_000351.7):c.807-5delT - STS_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-111642C>T r.(?) p.(=) - likely benign g.7177796G>A - STS(NM_001320750.1):c.825G>A (p.A275=) - STS_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-111570C>T r.(?) p.(=) - likely benign g.7177724G>A g.7259683G>A STS(NM_001320750.1):c.753G>A (p.M251I) - STS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-111490T>C r.(?) p.(=) - likely benign g.7177644A>G g.7259603A>G STS(NM_000351.4):c.652A>G (p.(Ser218Gly)) - STS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-111405G>C r.(?) p.(=) - likely benign g.7177559C>G - STS(NM_001320750.1):c.588C>G (p.P196=) - STS_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-111405G>T r.(?) p.(=) - likely benign g.7177559C>A g.7259518C>A STS(NM_000351.5):c.567C>A (p.P189=) - STS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-109417G>A r.(?) p.(=) - likely benign g.7175571C>T - STS(NM_001320750.1):c.360C>T (p.T120=) - STS_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-109401G>A r.(?) p.(=) - likely pathogenic g.7175555C>T - - - STS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.-109257_-109255del r.(?) p.(=) - likely benign, VUS g.7175412_7175414del g.7257371_7257373del STS(NM_000351.4):c.274+5_274+7del (p.?), STS(NM_000351.5):c.274+8_274+10delCCT - STS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.-109244G>A r.(?) p.(=) - pathogenic g.7175398C>T g.7257357C>T - - STS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-109232G>A r.(?) p.(=) - likely pathogenic g.7175386C>T - - - STS_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-109158C>A r.(?) p.(=) - likely benign g.7175312G>T g.7257271G>T STS(NM_000351.4):c.182G>T (p.(Gly61Val)) - STS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-109129C>T r.(?) p.(=) - likely benign g.7175283G>A - STS(NM_001320750.1):c.174G>A (p.R58=) - STS_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 - c.-105177C>T r.(?) p.(=) - pathogenic g.7171331G>A g.7253290G>A - - STS_000043 VKGL data sharing initiative Nederland Nagtzaam et al, submitted - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-105135G>A r.(?) p.(=) - VUS g.7171289C>T g.7253248C>T STS(NM_000351.4):c.64C>T (p.(His22Tyr)) - STS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-105129C>T r.(?) p.(=) - likely benign g.7171283G>A g.7253242G>A STS(NM_000351.5):c.58G>A (p.E20K) - STS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-105093T>A r.(?) p.(=) - likely benign g.7171247A>T - STS(NM_001320750.1):c.43A>T (p.I15F) - STS_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-42929C>T r.(?) p.(=) - benign g.7109083G>A - - - STS_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.43A>G r.(?) p.(Met15Val) - likely benign g.7066112T>C g.7148071T>C PUDP(NM_001135565.1):c.43A>G (p.M15V) - STS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.47A>T r.(?) p.(Asp16Val) - VUS g.7066108T>A - STS(NM_001320751.2):c.-268T>A - STS_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.61+43T>G r.(=) p.(=) - benign, likely benign g.7066051A>C - STS(NM_001320751.2):c.-325A>C - STS_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.62-11144A>G r.(=) p.(=) - likely benign g.7035023T>C - PUDP(NM_001135565.1):c.114A>G (p.L38=) - HDHD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.110A>C r.(?) p.(Tyr37Ser) - likely benign g.7023831T>G g.7105790T>G PUDP(NM_001135565.1):c.179A>C (p.Y60S) - HDHD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.269C>T r.(?) p.(Ala90Val) - likely benign g.7023672G>A g.7105631G>A HDHD1(NM_001135565.1):c.338C>T (p.(Ala113Val)) - HDHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.294C>A r.(?) p.(Leu98=) - likely benign g.6995477G>T - PUDP(NM_001135565.1):c.363C>A (p.L121=) - HDHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.300C>T r.(?) p.(Ile100=) - likely benign g.6995471G>A g.7077430G>A PUDP(NM_001135565.1):c.369C>T (p.I123=) - HDHD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.394A>T r.(?) p.(Ser132Cys) - VUS g.6995377T>A - PUDP(NM_001135565.1):c.463A>T (p.S155C) - HDHD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.465C>A r.(?) p.(Phe155Leu) - VUS g.6995306G>T - PUDP(NM_001135565.1):c.534C>A (p.F178L) - HDHD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.511-7333C>T r.(=) p.(=) - VUS g.6975846G>A g.7057805G>A HDHD1(NM_001178135.1):c.529C>T (p.R177C) - HDHD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.511-7266A>G r.(=) p.(=) - likely benign g.6975779T>C - PUDP(NM_001178135.1):c.596A>G (p.N199S) - HDHD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.511-7235A>G r.(=) p.(=) - VUS g.6975748T>C g.7057707T>C HDHD1(NM_001178135.1):c.627A>G (p.(Ter209TrpextTer?)) - HDHD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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