Full data view for gene SMS

Information The variants shown are described using the NM_004595.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.40G>C r.(?) p.(Gly14Arg) Unknown - VUS g.21958982G>C - SMS(NM_004595.5):c.40G>C (p.(Gly14Arg)) - SMS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.166G>A r.(?) p.(Gly56Ser) Unknown - likely pathogenic g.21985430G>A g.21967312G>A - - SMS_000023 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs121434610 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410846 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.168C>T r.(?) p.(Gly56=) Unknown - likely pathogenic g.21985432C>T g.21967314C>T SMS(NM_004595.5):c.168C>T (p.G56=) - SMS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170+2T>G r.spl? p.? Unknown - likely benign g.21985436T>G g.21967318T>G SMS(NM_004595.5):c.170+2T>G - SMS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171-50T>A r.(=) p.(=) Unknown - benign g.21989965T>A g.21971847T>A SMS(NM_004595.5):c.171-50T>A - SMS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171-49del r.(=) p.(=) Unknown - benign g.21989966del g.21971848del SMS(NM_004595.5):c.171-49delT - SMS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171C>T r.(?) p.(Ser57=) Unknown - likely benign g.21990015C>T g.21971897C>T SMS(NM_004595.4):c.171C>T (p.(=)), SMS(NM_004595.5):c.171C>T (p.S57=) - SMS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171C>T r.(?) p.(Ser57=) Unknown - likely benign g.21990015C>T g.21971897C>T SMS(NM_004595.4):c.171C>T (p.(=)), SMS(NM_004595.5):c.171C>T (p.S57=) - SMS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.265-5T>A r.[265_329del,171_329del,264_265ins[264+1_265-6;aguag]] p.? Unknown ACMG likely pathogenic g.21990620T>A g.21972502T>A - - SMS_000028 - PubMed: Deshwar 2023 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - NDD CMC27 PubMed: Deshwar 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
?/. - c.328C>T r.(?) p.(Arg110Ter) Unknown - VUS g.21990688C>T g.21972570C>T SMS(NM_001258423.1):c.171-4491C>T (p.?) - SMS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - likely pathogenic g.21995237C>T g.21977119C>T - - SMS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.388C>T r.(?) p.(Arg130Cys) Maternal (confirmed) - pathogenic (recessive) g.21995237C>T g.21977119C>T - - SMS_000010 de novo in mother PubMed: Abela 2016, PubMed: Papuc 2019 - - Germline yes - - - - DNA SEQ-NG-I blood WES EE 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - - - - 2 Anaïs Begemann
+?/. - c.400T>C r.(?) p.(Tyr134His) Maternal (confirmed) - likely pathogenic g.21995249T>C - - - SMS_000025 - - - - Germline - - - - - DNA SEQ-NG - WES ? 094P - - M no Sri Lanka - - - - - 1 Alejandro Brea-Fernández
?/. - c.449T>C r.(?) p.(Ile150Thr) Parent #1 - VUS g.21995298T>C g.21977180T>C - - SMS_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.505+13T>C r.(=) p.(=) Unknown - likely benign g.21995367T>C g.21977249T>C SMS(NM_004595.5):c.505+13T>C - SMS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561A>G r.(?) p.(Glu187=) Unknown - likely benign g.21996133A>G g.21978015A>G SMS(NM_004595.5):c.561A>G (p.E187=) - SMS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.569C>T r.(?) p.(Thr190Ile) Parent #1 - likely benign g.21996141C>T g.21978023C>T - - SMS_000021 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201275730 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.575A>G r.(?) p.(Lys192Arg) Unknown - VUS g.21996147A>G g.21978029A>G SMS(NM_004595.4):c.575A>G (p.K192R), SMS(NM_004595.5):c.575A>G (p.(Lys192Arg)) - SMS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575A>G r.(?) p.(Lys192Arg) Unknown - likely benign g.21996147A>G - SMS(NM_004595.4):c.575A>G (p.K192R), SMS(NM_004595.5):c.575A>G (p.(Lys192Arg)) - SMS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.661-13A>C r.spl? p.? Maternal (confirmed) ACMG likely pathogenic g.21996982A>C g.21978864A>C - - SMS_000029 - - - - Germline yes - - - - DNA SEQ-NG - - ? - - - M no France - - - - - 1 Marie-Laure Vuillaume
+?/. - c.697A>G r.(?) p.(Met233Val) Unknown - likely pathogenic g.21997031A>G - SMS(NM_004595.4):c.697A>G (p.(Met233Val)) - SMS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.741C>G r.(?) p.(Asp247Glu) Unknown - VUS g.21997075C>G - SMS(NM_004595.4):c.741C>G (p.(Asp247Glu)) - SMS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.751-140del r.(=) p.(=) Unknown - benign g.22002282del g.21984164del SMS(NM_004595.5):c.751-140delT - SMS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816T>C r.(?) p.(Tyr272=) Unknown - likely benign g.22002487T>C g.21984369T>C SMS(NM_004595.4):c.816T>C (p.Y272=) - SMS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.827A>T r.(?) p.(Asp276Val) Unknown - VUS g.22002498A>T - SMS(NM_004595.5):c.827A>T (p.D276V) - SMS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.842C>A r.(?) p.(Pro281Gln) Unknown - likely pathogenic g.22002513C>A g.21984395C>A SMS(NM_004595.5):c.842C>A (p.P281Q) - SMS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865+12dup r.(=) p.(=) Unknown - likely benign g.22002548dup - SMS(NM_004595.4):c.865+12dupT - SMS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865+12T>C r.(=) p.(=) Unknown - likely benign g.22002548T>C g.21984430T>C SMS(NM_004595.5):c.865+12T>C - SMS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019A>G r.(?) p.(Glu340Gly) Unknown - VUS g.22010788A>G - SMS(NM_004595.5):c.1019A>G (p.E340G) - SMS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026A>C r.(?) p.(Ser342=) Unknown - likely benign g.22010795A>C g.21992677A>C SMS(NM_004595.4):c.1026A>C (p.S342=), SMS(NM_004595.5):c.1026A>C (p.S342=) - SMS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1026A>C r.(?) p.(Ser342=) Unknown - benign g.22010795A>C g.21992677A>C SMS(NM_004595.4):c.1026A>C (p.S342=), SMS(NM_004595.5):c.1026A>C (p.S342=) - SMS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026A>C r.(=) p.(=) Parent #1 - likely benign g.22010795A>C g.21992677A>C S342S - SMS_000001 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.1061+14G>A r.(=) p.(=) Unknown - likely benign g.22010844G>A g.21992726G>A SMS(NM_004595.5):c.1061+14G>A - SMS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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