Full data view for gene SPTBN4

Information The variants shown are described using the NM_020971.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
Legend   How to query  

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.-15-6G>C r.(=) p.(=) Unknown - likely benign g.40978508G>C g.40472601G>C SPTBN4(NM_020971.3):c.-15-6G>C - SPTBN4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99G>T r.(?) p.(Glu33Asp) Unknown - likely benign g.40978627G>T g.40472720G>T SPTBN4(NM_020971.3):c.99G>T (p.E33D) - SPTBN4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Ala39Val) Unknown - likely benign g.40978644C>T - SPTBN4(NM_020971.2):c.116C>T (p.(Ala39Val)) - SPTBN4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392A>G r.(?) p.(Lys131Arg) Unknown - VUS g.40996052A>G - SPTBN4(NM_020971.3):c.392A>G (p.K131R) - SPTBN4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931A>T r.(?) p.(Ile311Leu) Unknown - VUS g.41008068A>T g.40502161A>T SPTBN4(NM_020971.2):c.931A>T (p.I311L) - SPTBN4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1511G>A r.(?) p.(Arg504Gln) Parent #1 - pathogenic (recessive) g.41009885G>A g.40503978G>A - - SPTBN4_000018 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamCPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1597C>T r.(?) p.(Gln533*) Both (homozygous) - pathogenic (recessive) g.41009971C>T - - - SPTBN4_000017 - PubMed: Knierim 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP patient PubMed: Knierim 2017 4-generation family, 1 affected, unaffected heterozygous carrier first cousin parents/relatives M yes Germany Kurdish - - - - 1 Johan den Dunnen
-?/. - c.1666-8G>A r.(=) p.(=) Unknown - likely benign g.41012135G>A - SPTBN4(NM_020971.3):c.1666-8G>A - SPTBN4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1813C>T r.(?) p.(Gln605Ter) Parent #1 - pathogenic (recessive) g.41012290C>T g.40506383C>T - - SPTBN4_000019 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamEPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
-?/. - c.2040_2048dup r.(?) p.(Ala681_Gly683dup) Unknown - likely benign g.41018736_41018744dup - SPTBN4(NM_020971.3):c.2040_2048dupCGCAGCGGG (p.A681_G683dup) - SPTBN4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2432T>A r.(?) p.(Leu811Gln) Unknown - VUS g.41019128T>A - SPTBN4(NM_020971.3):c.2432T>A (p.L811Q) - SPTBN4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2709G>A r.(?) p.(Trp903Ter) Both (homozygous) - pathogenic (recessive) g.41019405G>A g.40513498G>A - - SPTBN4_000020 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamBPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.2852G>A r.(?) p.(Gly951Asp) Unknown - VUS g.41021304G>A g.40515397G>A - - SPTBN4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3335G>T r.(?) p.(Gly1112Val) Unknown - VUS g.41025739G>T - SPTBN4(NM_020971.2):c.3335G>T (p.G1112V) - SPTBN4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3336C>T r.(?) p.(Gly1112=) Unknown - VUS g.41025740C>T - SPTBN4(NM_020971.2):c.3336C>T (p.G1112=) - SPTBN4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3394del r.(?) p.(His1132Thrfs*39) Both (homozygous) ACMG pathogenic (recessive) g.41025798del g.40519891del - - SPTBN4_000013 ACMG PVS1,PM2,PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 16DG1625 PubMed: Anazi 2017 familial F - - - - - - - 1 Johan den Dunnen
-/. - c.3710C>A r.(?) p.(Ala1237Asp) Unknown - benign g.41029399C>A - SPTBN4(NM_020971.2):c.3710C>A (p.(Ala1237Asp)) - SPTBN4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3727G>A r.(?) p.(Asp1243Asn) Unknown - VUS g.41029416G>A - SPTBN4(NM_020971.3):c.3727G>A (p.D1243N) - SPTBN4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.3797T>G r.(?) p.(Leu1266Arg) Maternal (confirmed) ACMG pathogenic (recessive) g.41029486T>G - - - SPTBN4_000015 - - - - Germline yes - - - - DNA SEQ-NG blood WGS ? iw299 - - M no China - - - - - 1 Wenjuan Qiu
+/. - c.3820G>T r.(?) p.(Glu1274Ter) Both (homozygous) - pathogenic (recessive) g.41029509G>T g.40523602G>T - - SPTBN4_000021 - PubMed: Wang 2018 - - Germline yes - - - - DNA SEQ-NG - WES ? FamAPatIII1 PubMed: Wang 2018 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F - United States - - - - - 3 Johan den Dunnen
+/. - c.3820G>T r.(?) p.(Glu1274Ter) Both (homozygous) - pathogenic (recessive) g.41029509G>T g.40523602G>T - - SPTBN4_000021 - PubMed: Wang 2018 - - Germline yes - - - - DNA SEQ-NG - WES ? FamAPatIII2 PubMed: Wang 2018 brother M - United States - 2y - - - 1 Johan den Dunnen
+/. - c.3829del r.(?) p.(Gln1277ArgfsTer4) Parent #2 - pathogenic (recessive) g.41029518del g.40523611del - - SPTBN4_000022 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamEPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.3920T>C r.(?) p.(Leu1307Pro) Unknown - VUS g.41035010T>C - SPTBN4(NM_020971.3):c.3920T>C (p.(Leu1307Pro)) - SPTBN4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3927C>G r.(?) p.(His1309Gln) Unknown - likely benign g.41035017C>G - SPTBN4(NM_020971.2):c.3927C>G (p.(His1309Gln)) - SPTBN4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4019A>G r.(?) p.(His1340Arg) Unknown - likely benign g.41038602A>G - - - SPTBN4_000051 - - - rs145720752 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4599G>T r.(?) p.(Glu1533Asp) Unknown - VUS g.41056158G>T - SPTBN4(NM_020971.3):c.4599G>T (p.E1533D) - SPTBN4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4708C>A r.(?) p.(Arg1570Ser) Unknown - VUS g.41060086C>A g.40554180C>A SPTBN4(NM_020971.2):c.4708C>A (p.R1570S) - SPTBN4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4934_4936del r.(?) p.(Met1645del) Unknown - VUS g.41060312_41060314del - SPTBN4(NM_020971.3):c.4934_4936del (p.(Met1645del)) - SPTBN4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5060T>A r.(?) p.(Leu1687Gln) Unknown - VUS g.41060528T>A - SPTBN4(NM_020971.3):c.5060T>A (p.(Leu1687Gln)) - SPTBN4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5155C>T r.(?) p.(Arg1719Cys) Unknown - likely pathogenic g.41062060C>T g.40556154C>T - - SPTBN4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5591C>A r.(?) p.(Pro1864His) Unknown - VUS g.41063230C>A - SPTBN4(NM_020971.3):c.5591C>A (p.P1864H) - SPTBN4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5675G>A r.(?) p.(Arg1892Gln) Unknown - VUS g.41066069G>A - SPTBN4(NM_020971.2):c.5675G>A (p.(Arg1892Gln)) - SPTBN4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5690G>T r.(?) p.(Gly1897Val) Unknown - VUS g.41066084G>T - SPTBN4(NM_020971.3):c.5690G>T (p.G1897V) - SPTBN4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5746C>T r.(?) p.(Arg1916Trp) Unknown - VUS g.41066140C>T g.40560234C>T SPTBN4(NM_020971.2):c.5746C>T (p.R1916W) - SPTBN4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5777A>T r.(?) p.(Glu1926Val) Unknown - VUS g.41066171A>T g.40560265A>T SPTBN4(NM_020971.2):c.5777A>T (p.E1926V) - SPTBN4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5827G>A r.(?) p.(Asp1943Asn) Unknown - VUS g.41066221G>A - SPTBN4(NM_020971.2):c.5827G>A (p.(Asp1943Asn)) - SPTBN4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5974G>C r.(?) p.(Glu1992Gln) Unknown - VUS g.41071387G>C - SPTBN4(NM_020971.2):c.5974G>C (p.(Glu1992Gln)) - SPTBN4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6238G>A r.(?) p.(Val2080Met) Unknown - VUS g.41072167G>A - SPTBN4(NM_020971.3):c.6238G>A (p.(Val2080Met)) - SPTBN4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6297C>T r.(?) p.(Ala2099=) Unknown - likely benign g.41072226C>T g.40566320C>T SPTBN4(NM_020971.3):c.6297C>T (p.A2099=) - SPTBN4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6477C>T r.(?) p.(=) Unknown - likely benign g.41073709C>T - SPTBN4(NM_020971.3):c.6477C>T (p.(Pro2159=)) - SPTBN4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6930G>A r.(?) p.(Met2310Ile) Unknown - likely benign g.41074162G>A - SPTBN4(NM_020971.3):c.6930G>A (p.(Met2310Ile)) - SPTBN4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7177G>T r.(?) p.(Gly2393Trp) Unknown - VUS g.41076492G>T - SPTBN4(NM_020971.3):c.7177G>T (p.(Gly2393Trp)) - SPTBN4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7209C>G r.(?) p.(Ala2403=) Unknown - likely benign g.41076524C>G g.40570618C>G SPTBN4(NM_020971.2):c.7209C>G (p.A2403=) - SPTBN4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7303C>T r.(?) p.(Arg2435Cys) Parent #2 - pathogenic (recessive) g.41076618C>T g.40570712C>T - - SPTBN4_000023 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamCPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.7319+115C>G r.(=) p.(=) Both (homozygous) - VUS g.41076749C>G g.40570843C>G - - SPTBN4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.7320-7G>A r.(=) p.(=) Unknown - likely benign g.41077918G>A - SPTBN4(NM_020971.2):c.7320-7G>A (p.(=)) - SPTBN4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7437G>C r.(?) p.(Lys2479Asn) Unknown - likely benign g.41078042G>C - SPTBN4(NM_020971.2):c.7437G>C (p.(Lys2479Asn)) - SPTBN4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7453del r.(?) p.(Ala2485LeufsTer31) Both (homozygous) - pathogenic (recessive) g.41078058del g.40572152del - - SPTBN4_000024 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ-NG - WES ? FamDPatII1 PubMed: Wang 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. 36 c.7585C>T r.(?) p.(His2529Tyr) Paternal (confirmed) ACMG VUS g.41081365C>T - - - SPTBN4_000016 - - - - Germline yes - - - - DNA SEQ-NG blood WGS ? iw299 - - M no China - - - - - 1 Wenjuan Qiu
?/. - c.*2971C>A r.(=) p.(=) Unknown - VUS g.41084446C>A - SHKBP1(NM_138392.4):c.398C>A (p.P133Q) - SPTBN4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.