Full data view for gene SUFU

Information The variants shown are described using the NM_016169.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.12G>A r.(?) p.(Leu4=) Unknown - benign g.104263921G>A g.102504164G>A - - SUFU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>C r.(?) p.(Gly11Arg) Unknown - likely benign g.104263940G>C g.102504183G>C SUFU(NM_001178133.1):c.31G>C (p.(Gly11Arg)) - ACTR1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37A>C r.(?) p.(Thr13Pro) Unknown - likely benign g.104263946A>C g.102504189A>C SUFU(NM_001178133.1):c.37A>C (p.(Thr13Pro)) - ACTR1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40G>C r.(?) p.(Ala14Pro) Unknown - likely benign g.104263949G>C g.102504192G>C SUFU(NM_001178133.1):c.40G>C (p.(Ala14Pro)) - ACTR1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50C>T r.(?) p.(Ala17Val) Unknown - VUS g.104263959C>T - SUFU(NM_016169.3):c.50C>T (p.A17V) - ACTR1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71del r.(?) p.(Pro24ArgfsTer72) Unknown - pathogenic g.104263980del g.102504223del SUFU(NM_001178133.1):c.71del (p.(Pro24ArgfsTer72)), SUFU(NM_016169.3):c.71delC (p.P24Rfs*72) - ACTR1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71del r.(?) p.(Pro24ArgfsTer72) Unknown - pathogenic g.104263980del g.102504223del SUFU(NM_001178133.1):c.71del (p.(Pro24ArgfsTer72)), SUFU(NM_016169.3):c.71delC (p.P24Rfs*72) - ACTR1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142C>T r.(?) p.(Gln48Ter) Unknown - pathogenic g.104264051C>T g.102504294C>T - - ACTR1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.182+16C>T r.(=) p.(=) Unknown - benign g.104264107C>T g.102504350C>T SUFU(NM_016169.3):c.182+16C>T - SUFU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.182+16C>T r.(=) p.(=) Unknown - benign g.104264107C>T g.102504350C>T SUFU(NM_016169.3):c.182+16C>T - SUFU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.182+189C>T r.(=) p.(=) Unknown - benign g.104264280C>T g.102504523C>T SUFU(NM_016169.3):c.182+189C>T - ACTR1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183-126G>C r.(=) p.(=) Unknown - benign g.104268800G>C g.102509043G>C SUFU(NM_016169.3):c.183-126G>C - SUFU_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.183-66C>A r.(?) p.(=) Parent #1 - likely benign g.104268860C>A g.102509103C>A NM_001178133.1:c.183-66C>A - SUFU_000001 - PubMed: Jang 2015, Journal: Jang 2015 - rs185072800 Germline - - - 0 - DNA SEQ, SEQ-NG - - ? - PubMed: Jang 2015, Journal: Jang 2015 4-generation family, 8 affecteds (5F, 3M) - - Korea - - 0 - - 8 Johan den Dunnen
-/. - c.183-49G>C r.(=) p.(=) Unknown - benign g.104268877G>C g.102509120G>C SUFU(NM_016169.3):c.183-49G>C - SUFU_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210T>C r.(?) p.(Tyr70=) Unknown - benign g.104268953T>C g.102509196T>C - - SUFU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.318-17C>A r.(=) p.(=) Unknown - likely benign g.104309710C>A g.102549953C>A SUFU(NM_016169.3):c.318-17C>A - SUFU_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Ala138Thr) Parent #1 - VUS g.104309821G>A g.102550064G>A - - SUFU_000033 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34406289 Germline - 2/2795 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.506A>G r.(?) p.(Asn169Ser) Unknown - likely benign g.104352390A>G g.102592633A>G - - SUFU_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.510dup r.(?) p.(Glu171Ter) Unknown - pathogenic g.104352394dup g.102592637dup - - SUFU_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.527A>G r.(?) p.(His176Arg) Both (homozygous) - pathogenic g.104352411A>G g.102592654A>G - - SUFU_000003 - - - - Germline yes - - 0 - DNA SEQ-NG-S - - JBTS - - - M yes Egypt - - 0 - - 1 Enza Maria Valente
+/. 4 c.527A>G r.(?) p.(His176Arg) Both (homozygous) - pathogenic g.104352411A>G g.102592654A>G - - SUFU_000003 - - - - Germline yes - - 0 - DNA SEQ-NG-S - - JBTS - - - F yes Egypt - - 0 - - 1 Enza Maria Valente
-?/. - c.600C>T r.(?) p.(Ile200=) Unknown - likely benign g.104353395C>T g.102593638C>T SUFU(NM_016169.3):c.600C>T (p.I200=, ) - SUFU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Ile200=) Unknown - likely benign g.104353395C>T g.102593638C>T SUFU(NM_016169.3):c.600C>T (p.I200=, ) - SUFU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Ile200=) Unknown - likely benign g.104353395C>T - SUFU(NM_016169.3):c.600C>T (p.I200=, ) - SUFU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616G>T r.(?) p.(Glu206Ter) Unknown - pathogenic g.104353411G>T g.102593654G>T - - SUFU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.629C>G r.(?) p.(Ser210Ter) Unknown - pathogenic g.104353424C>G g.102593667C>G - - SUFU_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715C>T r.(?) p.(Arg239Trp) Unknown - VUS g.104353781C>T - SUFU(NM_016169.3):c.715C>T (p.R239W) - SUFU_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.756+1G>A r.spl? p.? Unknown - pathogenic g.104353823G>A g.102594066G>A - - SUFU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.756+2T>C r.spl? p.? Unknown - likely pathogenic g.104353824T>C g.102594067T>C - - SUFU_000032 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BCNS - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.757-75A>G r.(=) p.(=) Unknown - benign g.104356822A>G g.102597065A>G SUFU(NM_016169.3):c.757-75A>G - SUFU_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.793_794del r.(?) p.(Asn265Profs*12) Unknown - likely pathogenic g.104356933_104356934del g.102597176_102597177del - - SUFU_000022 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - - - - 0 - - 1 Gunnar Schmidt
-?/. - c.882C>T r.(?) p.(Gly294=) Unknown - likely benign g.104357022C>T g.102597265C>T SUFU(NM_016169.3):c.882C>T (p.G294=) - SUFU_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910+14C>T r.(=) p.(=) Unknown - likely benign g.104357064C>T g.102597307C>T SUFU(NM_016169.3):c.910+14C>T - SUFU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.910+14C>T r.(=) p.(=) Unknown - likely benign g.104357064C>T g.102597307C>T SUFU(NM_016169.3):c.910+14C>T - SUFU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.911-7G>A r.(=) p.(=) Unknown - likely benign g.104359183G>A g.102599426G>A SUFU(NM_016169.3):c.911-7G>A - SUFU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.911-7G>A r.(=) p.(=) Unknown - likely benign g.104359183G>A g.102599426G>A SUFU(NM_016169.3):c.911-7G>A - SUFU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992G>A r.(?) p.(Arg331Gln) Unknown - VUS g.104359271G>A g.102599514G>A - - SUFU_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018G>T r.(?) p.(Ala340Ser) Unknown - benign g.104359297G>T g.102599540G>T SUFU(NM_016169.3):c.1018G>T (p.A340S) - SUFU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1018G>T r.(?) p.(Ala340Ser) Unknown - likely benign g.104359297G>T g.102599540G>T SUFU(NM_016169.3):c.1018G>T (p.A340S) - SUFU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1018G>T r.(?) p.(Ala340Ser) Unknown - benign g.104359297G>T g.102599540G>T SUFU(NM_016169.3):c.1018G>T (p.A340S) - SUFU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1022C>T r.(?) p.(Pro341Leu) Unknown - VUS g.104359301C>T g.102599544C>T SUFU(NM_016169.3):c.1022C>T (p.P341L) - SUFU_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1023-9G>C r.(=) p.(=) Unknown - likely benign g.104375016G>C - SUFU(NM_016169.3):c.1023-9G>C - SUFU_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1023-3C>T r.spl? p.? Unknown - VUS g.104375022C>T g.102615265C>T SUFU(NM_016169.3):c.1023-3C>T - SUFU_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1157+99G>A r.(=) p.(=) Unknown - benign g.104375258G>A g.102615501G>A SUFU(NM_016169.3):c.1157+99G>A - SUFU_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1217T>C r.(?) p.(Ile406Thr) Both (homozygous) - pathogenic g.104377106T>C g.102617349T>C - - SUFU_000002 - - - - Germline yes - - 0 - DNA SEQ-NG-S - - JBTS - - - M yes Italy - - 0 - - 1 Enza Maria Valente
+/. 10 c.1217T>C r.(?) p.(Ile406Thr) Unknown - pathogenic g.104377106T>C g.102617349T>C - - SUFU_000002 - - - - Germline - - - 0 - DNA SEQ-NG-S - - JBTS - - - F yes Italy - - 0 - - 1 Enza Maria Valente
-/. - c.1291T>C r.(?) p.(Leu431=) Unknown - benign g.104377180T>C g.102617423T>C - - SUFU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1296+1565G>A r.(=) p.(=) Unknown - benign g.104378750G>A g.102618993G>A SUFU(NM_016169.3):c.1296+1565G>A - SUFU_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1299T>C r.(?) p.(Ile433=) Unknown - benign g.104386934T>C g.102627177T>C - - SUFU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1308C>T r.(?) p.(Thr436=) Unknown - likely benign g.104386943C>T - SUFU(NM_016169.3):c.1308C>T (p.T436=) - SUFU_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1365+19T>C r.(=) p.(=) Unknown - benign g.104387019T>C g.102627262T>C SUFU(NM_016169.3):c.1365+19T>C - SUFU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1365+19T>C r.(=) p.(=) Unknown - benign g.104387019T>C g.102627262T>C SUFU(NM_016169.3):c.1365+19T>C - SUFU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1375C>A r.(?) p.(Pro459Thr) Unknown - VUS g.104389832C>A g.102630075C>A SUFU(NM_016169.3):c.1375C>A (p.P459T) - SUFU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*20= r.(=) p.(=) Unknown - benign g.104389932T>G g.102630175T>G SUFU(NM_016169.3):c.*20T>G - SUFU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*20= r.(=) p.(=) Unknown - benign g.104389932T>G g.102630175T>G SUFU(NM_016169.3):c.*20T>G - SUFU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1672A>G r.(=) p.(=) Parent #1 - likely benign g.104391584A>G g.102631827A>G - - SUFU_000034 16 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117196884 Germline - 16/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 16 Mohammed Faruq
-?/. - c.*1672A>G r.(=) p.(=) Both (homozygous) - likely benign g.104391584A>G g.102631827A>G - - SUFU_000034 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117196884 Germline - 1/2794 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
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