Full data view for gene NEMF

Information The variants shown are described using the NM_004713.3 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.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.50319471T>A g.49852753T>A - - NEMF_000019 phase variants unknown PubMed: Martin 2020 - - De novo - - - - - DNA SEQ-NG - WES ? FamUSA1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.574+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50304856C>A g.49838138C>A - - NEMF_000018 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam3PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.699A>C r.(?) p.(Glu233Asp) Unknown - VUS g.50300177T>G - NEMF(NM_004713.6):c.699A>C (p.(Glu233Asp)) - NEMF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.807-2A>C r.(807_882del) p.(Tyr270Argfs*9) Both (homozygous) - pathogenic (recessive) g.50298846T>G g.49832128T>G - - NEMF_000017 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam2PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Slovenia - - - - - 2 Johan den Dunnen
+/. - c.807-2A>C r.(807_882del) p.(Tyr270Argfs*9) Both (homozygous) - pathogenic (recessive) g.50298846T>G g.49832128T>G - - NEMF_000017 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam2PatII3 PubMed: Ahmed 2021 - F - Slovenia - - - - - 1 Johan den Dunnen
?/. - c.980G>A r.(?) p.(Arg327Gln) Maternal (confirmed) - VUS g.50296110C>T g.49829392C>T - - NEMF_000016 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamUSA2PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.1234_1235insC r.(?) p.(Asn412Thrfs*11) Both (homozygous) - pathogenic (recessive) g.50295523_50295524insG g.49828805_49828806insG - - NEMF_000015 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam4PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1234_1235insC r.(?) p.(Asn412Thrfs*11) Both (homozygous) - pathogenic (recessive) g.50295523_50295524insG g.49828805_49828806insG - - NEMF_000015 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam5PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1235_1236insC r.(?) p.(Pro413Serfs*10) Both (homozygous) - pathogenic g.50295522_50295523insG g.49828804_49828805insG - - NEMF_000014 - PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG0891 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.1658T>C r.(?) p.(Ile553Thr) Unknown - likely pathogenic (dominant) g.50281495A>G g.49814777A>G - - NEMF_000013 no variant 2nd chroosome PubMed: Martin 2020 - - De novo - - - - - DNA SEQ-NG - WES ? FamUSA3PatII2 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.1947A>G r.(?) p.(=) Unknown - likely benign g.50269414T>C - NEMF(NM_004713.6):c.1947A>G (p.(Leu649=)) - NEMF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1974+1G>A r.spl? p.? Unknown - VUS g.50269386C>T - NEMF(NM_004713.6):c.1974+1G>A - NEMF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2011C>T r.(?) p.(Arg671Ter) Maternal (confirmed) - pathogenic g.50269255G>A g.49802537G>A - - NEMF_000012 phase variants unknown PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamUSA1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.2014A>T r.(?) p.(Lys672Ter) Both (homozygous) - pathogenic (recessive) g.50269252T>A g.49802534T>A - - NEMF_000011 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamDEU1PatII3 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany Turkey - - - - 2 Johan den Dunnen
+/. - c.2014A>T r.(?) p.(Lys672Ter) Both (homozygous) - pathogenic (recessive) g.50269252T>A g.49802534T>A - - NEMF_000011 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamDEU1PatII6 - sister F yes Germany Turkey - - - - 1 Johan den Dunnen
+/. - c.2451del r.(?) p.(Ala818ProfsTer7) Both (homozygous) - pathogenic (recessive) g.50266207del g.49799489del 2451delA - NEMF_000010 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamIRN1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.2608C>T r.(?) p.(Arg870Ter) Both (homozygous) - pathogenic (recessive) g.50262520G>A g.49795802G>A - - NEMF_000009 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamAUS1PatII3 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Australia Syria - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood WES ? Fam1PatIV3 PubMed: Ahmed 2021 5-generation family, 8 affected (2F, 6M) M yes Pakistan - - - - - 6 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV6 PubMed: Ahmed 2021 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV7 PubMed: Ahmed 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV8 PubMed: Ahmed 2021 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV13 PubMed: Ahmed 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV14 PubMed: Ahmed 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV18 PubMed: Ahmed 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2618del r.(?) p.(Lys873Argfs*4) Both (homozygous) - pathogenic (recessive) g.50262513del g.49795795del - - NEMF_000005 - PubMed: Ahmed 2021 - - Germline - - - - - DNA SEQ-NG blood - ? Fam1PatIV19 PubMed: Ahmed 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2768del r.(?) p.(Lys923ArgfsTer27) Paternal (confirmed) - pathogenic (recessive) g.50255992del g.49789274del 2768delA - NEMF_000008 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamUSA2PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
?/. - c.2777C>T r.(?) p.(Pro926Leu) Maternal (confirmed) - VUS g.50255982G>A g.49789264G>A - - NEMF_000007 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamUSA2PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.2871_2875dup r.(?) p.(Asp959ValfsTer2) Both (homozygous) - pathogenic (recessive) g.50255884_50255888dup g.49789166_49789170dup 2871_2875dupTGTAG - NEMF_000006 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamSAU1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.2871_2875dup r.(?) p.(Asp959ValfsTer2) Both (homozygous) - pathogenic (recessive) g.50255884_50255888dup g.49789166_49789170dup 2871_2875dupTGTAG - NEMF_000006 - PubMed: Martin 2020 - - Germline - - - - - DNA SEQ-NG - WES ? FamSAU1PatII2 - brother M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.2977C>T r.(?) p.(=) Unknown - likely benign g.50251990G>A - NEMF(NM_004713.3):c.2977C>T (p.(His993Tyr)) - KLHDC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3102G>A r.(?) p.(Met1034Ile) Unknown - VUS g.50251694C>T g.49784976C>T NEMF(NM_004713.3):c.3102G>A (p.(Met1034Ile)) - NEMF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3102_3103delinsAT r.(?) p.(Met1034_His1035delinsIleTyr) Unknown - VUS g.50251693_50251694delinsAT - NEMF(NM_004713.6):c.3102_3103delinsAT (p.(Met1034_His1035delinsIleTyr)) - KLHDC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3103C>T r.(?) p.(His1035Tyr) Unknown - VUS g.50251693G>A g.49784975G>A NEMF(NM_004713.3):c.3103C>T (p.(His1035Tyr)) - NEMF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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