Full data view for gene TUFM

Information The variants shown are described using the NM_003321.4 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-5742410_*754295del 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.-3031094_*1671145dup - - 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.-474655_*7324089del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-55T>C r.(=) p.(=) Parent #1 - benign g.28857645A>G g.28846324A>G - - TUFM_000001 - - - rs7187776 Germline - frequency 16-45% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.211del r.(?) p.(His71fs) Parent #1 - likely pathogenic g.28857270del g.28845949del - - TUFM_000006 Functional validation will be performed PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
-/. - c.248-18G>A r.(=) p.(=) Parent #1 - benign g.28856819C>T g.28845498C>T - - TUFM_000004 - - - rs8061877 Germline - frequency 28-50% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.815C>T r.(?) p.(Pro272Leu) Unknown - VUS g.28855742G>A - TUFM(NM_003321.5):c.815C>T (p.(Pro272Leu)) - SH2B1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.817+13T>C r.(=) p.(=) Parent #1 - benign g.28855727A>G g.28844406A>G - - TUFM_000003 - - - rs4788099 Germline - frequency 15-30% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.817+13T>C r.(=) p.(=) Unknown - benign g.28855727A>G g.28844406A>G TUFM(NM_003321.5):c.817+13T>C - TUFM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>A r.(?) p.(Arg284His) Unknown - VUS g.28855622C>T - TUFM(NM_003321.5):c.851G>A (p.(Arg284His)) - SH2B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.922+29C>G r.(=) p.(=) Parent #1 - benign g.28855522G>C g.28844201G>C - - TUFM_000002 - - - rs61737565 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.923-7G>A r.(=) p.(=) Unknown - likely benign g.28855429C>T - TUFM(NM_003321.4):c.923-7G>A - SH2B1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1000C>T r.(?) p.(Arg334Trp) Parent #2 - likely pathogenic g.28855345G>A g.28844024G>A - - TUFM_000005 Functional validation will be performed PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+/. 8 c.1016G>A r.1016g>a p.Arg339Gln Both (homozygous) - pathogenic g.28855329C>T g.28844008C>T - - TUFM_000007 - PubMed: Valente 2007, OMIM:var0001 - rs121434452 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - COXPD4 - PubMed: Valente 2007 family, 1 affected, unaffected heterozygous carrier parents/sibs F no Italy Tyrol, south 01y02m - - - 1 Johan den Dunnen
?/. - c.1368A>T r.(?) p.*456Cysext*12 Unknown ACMG VUS g.28854296T>A g.28842975T>A - - TUFM_000008 - - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
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