Full data view for gene STX1B

Information The variants shown are described using the NM_052874.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-3578283_*2904141del 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.-866967_*3820991dup - - 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.46G>A r.(?) p.(Asp16Asn) Unknown - VUS g.31012909C>T g.31001588C>T - - STX1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106-16C>G r.(=) p.(=) Unknown - likely benign g.31012530G>C - STX1B(NM_052874.4):c.106-16C>G - STX1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.206-2A>T r.spl? p.? Unknown - likely pathogenic g.31012325T>A g.31001004T>A - - STX1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.206-1G>A r.spl? p.? Unknown ACMG likely pathogenic (dominant) g.31012324C>T - - - STX1B_000009 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - GEFSP9 175255 - - F no - - - - - - 1 Andreas Laner
+?/. - c.210del r.(?) p.(Lys71AsnfsTer22) Unknown - likely pathogenic g.31012320del g.31000999del - - STX1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>T r.(?) p.(Ala85Ser) Unknown - VUS g.31012276C>A g.31000955C>A STX1B(NM_052874.5):c.253G>T (p.A85S) - STX1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260A>C r.(?) p.(Lys87Thr) Unknown - VUS g.31012269T>G - STX1B(NM_052874.5):c.260A>C (p.K87T) - STX1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.312del r.(?) p.(Leu105Ter) Unknown - pathogenic g.31008868del g.30997547del STX1B(NM_052874.5):c.312delG (p.L105*) - STX1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358T>A r.(?) p.(Ser120Thr) Unknown - VUS g.31008377A>T - STX1B(NM_052874.4):c.358T>A (p.S120T) - STX1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.485_486del r.(?) p.(Glu162GlyfsTer17) Unknown - likely pathogenic g.31008055_31008056del g.30996734_30996735del STX1B(NM_052874.5):c.485_486delAA (p.E162Gfs*17) - STX1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557T>C r.(?) p.(Met186Thr) Unknown - VUS g.31004786A>G - STX1B(NM_052874.5):c.557T>C (p.(Met186Thr)) - HSD3B7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.565C>T r.(?) p.(Gln189*) Unknown - pathogenic g.31004778G>A - - - HSD3B7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611T>C r.(?) p.(Leu204Pro) 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.697G>A r.(?) p.(Glu233Lys) Unknown ACMG VUS g.31004540C>T - - - STX1B_000011 ACMG: PM1, PM2_SUP, PP3; Glutamate at position 233 is located in the "t-snare coiled coil" domain of the STX1B protein and is highly conserved across many species ,at adjacent amino acid positions of this domain further missense vairants are described as pathogenic - - - Germline ? - - - - DNA SEQ-NG-I - - GEFSP9 208881 - - M - - - - - - - 1 Andreas Laner
+/. - c.726C>G r.(?) p.(Tyr242*) Unknown - pathogenic g.31004511G>C - STX1B(NM_052874.5):c.726C>G (p.Y242*) - HSD3B7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.733C>T r.(?) p.(Arg245Ter) Unknown - likely pathogenic g.31004504G>A g.30993183G>A - - HSD3B7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.840A>G r.(?) p.(Ser280=) Unknown - benign g.31004169T>C - - - HSD3B7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845T>C r.(?) p.(Ile282Thr) 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.845T>C r.(?) p.(Ile282Thr) 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.845T>C r.(?) p.(Ile282Thr) 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.*4680A>G 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.*4681C>T 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.*4708A>G 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.*4892C>T 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.*5000T>C r.(=) p.(=) 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.*5862G>A 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.*5876C>T 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.*5882G>A 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.*6364G>A r.(=) p.(=) 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.*6364G>A r.(=) p.(=) 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.*6623C>T r.(=) p.(=) Unknown - VUS g.30997519G>A - HSD3B7(NM_025193.4):c.316G>A (p.(Val106Met)) - HSD3B7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6705G>C r.(=) p.(=) 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.*7069G>A r.(=) p.(=) Unknown - VUS g.30997073C>T - HSD3B7(NM_025193.4):c.94C>T (p.(Arg32Trp)) - HSD3B7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7091G>T r.(=) p.(=) 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.*7092T>C r.(=) p.(=) 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.*7117_*7118del r.(=) p.(=) 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.*7127G>T r.(=) p.(=) Unknown - pathogenic g.30997015C>A - HSD3B7(NM_001142777.2):c.36C>A (p.Y12*) - HSD3B7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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