Full data view for gene HSD3B7

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

51 entries on 1 page. Showing entries 1 - 51.
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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.-3813667_*889536dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2896817_*3600852del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-5673G>A r.(?) p.(=) Unknown - likely benign g.30991145G>A g.30979824G>A SETD1A(NM_014712.2):c.4038G>A (p.A1346=) - HSD3B7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5594G>T r.(?) p.(=) Unknown - pathogenic g.30991224G>T - - - HSD3B7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5588_-5586del r.(?) p.(=) Unknown - VUS g.30991230_30991232del - SETD1A(NM_014712.1):c.4123_4125delGAG (p.(Glu1375del)) - HSD3B7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5564_-5562dup r.(?) p.(=) Unknown - likely benign g.30991254_30991256dup g.30979933_30979935dup SETD1A(NM_014712.3):c.4147_4149dupAGC (p.S1383dup) - SETD1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5536G>A r.(?) p.(=) Unknown - VUS g.30991282G>A - SETD1A(NM_014712.3):c.4175G>A (p.(Arg1392His)) - HSD3B7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5497C>A r.(?) p.(=) Unknown - likely benign g.30991321C>A - SETD1A(NM_014712.3):c.4214C>A (p.(Pro1405His)) - HSD3B7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5455G>C r.(?) p.(=) Unknown - likely benign g.30991363G>C - SETD1A(NM_014712.1):c.4256G>C (p.(Ser1419Thr)) - HSD3B7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5435A>G r.(?) p.(=) Unknown - likely benign g.30991383A>G - SETD1A(NM_014712.1):c.4276A>G (p.(Ile1426Val)) - HSD3B7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5305C>T r.(?) p.(=) Unknown - VUS g.30991513C>T g.30980192C>T SETD1A(NM_014712.2):c.4406C>T (p.T1469I) - HSD3B7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4760A>G r.(?) p.(=) Unknown - VUS g.30992058A>G - SETD1A(NM_014712.3):c.4582-2A>G - HSD3B7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4760_-4759del r.(?) p.(=) Unknown - likely pathogenic g.30992058_30992059del g.30980737_30980738del SETD1A(NM_014712.1):c.4582-2_4582-1delAG (p.?), SETD1A(NM_014712.2):c.4582-2_4582-1delAG - SETD1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4760_-4759del r.(?) p.(=) Unknown - pathogenic g.30992058_30992059del g.30980737_30980738del SETD1A(NM_014712.1):c.4582-2_4582-1delAG (p.?), SETD1A(NM_014712.2):c.4582-2_4582-1delAG - SETD1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4760_-4759del r.(?) p.(=) Unknown - likely pathogenic g.30992058_30992059del - SETD1A(NM_014712.1):c.4582-2_4582-1delAG (p.?), SETD1A(NM_014712.2):c.4582-2_4582-1delAG - SETD1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4700del r.(?) p.(=) Unknown - likely pathogenic g.30992118del g.30980797del SETD1A(NM_014712.2):c.4640delT (p.I1547Tfs*12) - HSD3B7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4685del r.(?) p.(=) Unknown - pathogenic g.30992133del - - - HSD3B7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4424A>C r.(?) p.(=) Unknown - likely benign g.30992394A>C g.30981073A>C SETD1A(NM_014712.3):c.4705A>C (p.(Lys1569Gln)) - SETD1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4417G>A r.(?) p.(=) Unknown - VUS g.30992401G>A - SETD1A(NM_014712.3):c.4712G>A (p.(Arg1571Gln)) - HSD3B7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4380dup r.(?) p.(=) Unknown - VUS g.30992438dup g.30981117dup SETD1A(NM_014712.1):c.4749dup (p.(Ala1584CysfsTer8)) - HSD3B7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1652C>T r.(?) p.(=) Unknown - likely benign g.30995166C>T - SETD1A(NM_014712.3):c.4951-5C>T - HSD3B7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1552C>T r.(?) p.(=) Unknown - likely benign g.30995266C>T - SETD1A(NM_014712.2):c.5046C>T (p.Y1682=) - HSD3B7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.36C>A r.(?) p.(Tyr12Ter) Unknown - pathogenic g.30997015C>A - HSD3B7(NM_001142777.2):c.36C>A (p.Y12*) - HSD3B7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.45_46del r.(?) p.(Gly17LeufsTer26) Unknown - pathogenic g.30997024_30997025del g.30985703_30985704del HSD3B7(NM_001142777.2):c.45_46delAG (p.G17Lfs*26) - HSD3B7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.45_46del r.(?) p.(Gly17Leufs*26) Both (homozygous) - likely pathogenic (recessive) g.30997024_30997025del - - - HSD3B7_000002 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - ? Fam15PatLP14 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.71A>G r.(?) p.(His24Arg) Unknown - likely benign g.30997050A>G g.30985729A>G HSD3B7(NM_001142777.1):c.71A>G (p.(His24Arg)) - HSD3B7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.72C>A r.(?) p.(His24Gln) Unknown - VUS g.30997051C>A g.30985730C>A HSD3B7(NM_001142777.1):c.72C>A (p.(His24Gln)) - HSD3B7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94C>T r.(?) p.(Arg32Trp) Unknown - VUS g.30997073C>T - HSD3B7(NM_025193.4):c.94C>T (p.(Arg32Trp)) - HSD3B7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>G r.(?) p.(Ala78=) Unknown - likely benign g.30997437C>G g.30986116C>G HSD3B7(NM_001142777.1):c.234C>G (p.A78=) - HSD3B7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Val106Met) Unknown - VUS g.30997519G>A - HSD3B7(NM_025193.4):c.316G>A (p.(Val106Met)) - HSD3B7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Thr119=) Unknown - likely benign g.30997778C>T g.30986457C>T HSD3B7(NM_001142777.1):c.357C>T (p.T119=), HSD3B7(NM_001142777.2):c.357C>T (p.T119=) - HSD3B7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Thr119=) Unknown - likely benign g.30997778C>T - HSD3B7(NM_001142777.1):c.357C>T (p.T119=), HSD3B7(NM_001142777.2):c.357C>T (p.T119=) - HSD3B7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531+235C>T r.(=) p.(=) Unknown - VUS g.30998260C>T g.30986939C>T HSD3B7(NM_025193.4):c.631C>T (p.R211C) - HSD3B7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531+241G>A r.(=) p.(=) Unknown - VUS g.30998266G>A - HSD3B7(NM_025193.3):c.637G>A (p.G213R) - HSD3B7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531+255C>T r.(=) p.(=) Unknown - likely benign g.30998280C>T - HSD3B7(NM_025193.3):c.651C>T (p.F217=) - HSD3B7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.531+300del r.(=) p.(=) Both (homozygous) ACMG likely pathogenic g.30998325del g.30987004del - - HSD3B7_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CBAS1 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.531+300del r.(=) p.(=) Both (homozygous) ACMG likely pathogenic g.30998325del g.30987004del HSD3B7, NM_025193.3, c.694+2del, NA - HSD3B7_000001 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 31 PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
-/. - c.585A>G r.(?) p.(Gln195=) Unknown - benign g.30999142A>G g.30987821A>G HSD3B7(NM_025193.4):c.748A>G (p.T250A) - HSD3B7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*102G>A r.(=) p.(=) Unknown - benign g.30999250G>A g.30987929G>A HSD3B7(NM_025193.3):c.856G>A (p.A286T) - HSD3B7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*286T>C r.(=) p.(=) Unknown - likely benign g.30999434T>C g.30988113T>C HSD3B7(NM_001142777.1):c.*286T>C (p.(=)) - HSD3B7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*313G>A r.(=) p.(=) Unknown - VUS g.30999461G>A - HSD3B7(NM_025193.4):c.1067G>A (p.R356H) - HSD3B7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*314T>C r.(=) p.(=) Unknown - benign g.30999462T>C g.30988141T>C HSD3B7(NM_025193.4):c.1068T>C (p.R356=) - HSD3B7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5016A>G r.(=) p.(=) Unknown - VUS g.31004164A>G - STX1B(NM_052874.3):c.845T>C (p.(Ile282Thr)), STX1B(NM_052874.5):c.845T>C (p.I282T) - HSD3B7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5016A>G r.(=) p.(=) Unknown - VUS g.31004164A>G - STX1B(NM_052874.3):c.845T>C (p.(Ile282Thr)), STX1B(NM_052874.5):c.845T>C (p.I282T) - HSD3B7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5016A>G r.(=) p.(=) Unknown - VUS g.31004164A>G - STX1B(NM_052874.3):c.845T>C (p.(Ile282Thr)), STX1B(NM_052874.5):c.845T>C (p.I282T) - HSD3B7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5021T>C r.(=) p.(=) Unknown - benign g.31004169T>C - - - HSD3B7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5356G>A r.(=) p.(=) Unknown - likely pathogenic g.31004504G>A g.30993183G>A - - HSD3B7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5363G>C r.(=) p.(=) Unknown - pathogenic g.31004511G>C - STX1B(NM_052874.5):c.726C>G (p.Y242*) - HSD3B7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5584A>G r.(=) p.(=) Unknown - VUS g.31004732A>G g.30993411A>G STX1B(NM_052874.3):c.611T>C (p.(Leu204Pro)) - STX1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5630G>A r.(=) p.(=) Unknown - pathogenic g.31004778G>A - - - HSD3B7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5638A>G r.(=) p.(=) Unknown - VUS g.31004786A>G - STX1B(NM_052874.5):c.557T>C (p.(Met186Thr)) - HSD3B7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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