Full data view for gene LMOD3

Information The variants shown are described using the NM_198271.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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     
+/. 1 c.138dup r.(?) p.(Ser47Glnfs*13) Both (homozygous) - pathogenic g.69171403dup g.69122252dup - - LMOD3_000001 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 1a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F yes Algeria - <00y00m28d - - - 2 Johan den Dunnen
+/. 1 c.138dup r.(?) p.(Ser47Glnfs*13) Both (homozygous) - pathogenic g.69171403dup g.69122252dup - - LMOD3_000001 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 1b F yes Algeria - <00y00m28d - - - 1 Johan den Dunnen
+/. 1 c.138dup r.(?) p.(Ser47Glnfs*13) Both (homozygous) - pathogenic g.69171403dup g.69122252dup - - LMOD3_000001 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Belgium - 10m - - - 1 Johan den Dunnen
+/. 1 c.154del r.(?) p.(Met52*) Both (homozygous) - pathogenic g.69171385del g.69122234del - - LMOD3_000002 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 3a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F ? Portugal - <00y00m28d - - - 2 Johan den Dunnen
+/. 1 c.154del r.(?) p.(Met52*) Both (homozygous) - pathogenic g.69171385del g.69122234del - - LMOD3_000002 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 3b F ? Portugal - >1m - - - 1 Johan den Dunnen
+/. 1 c.231G>A r.(?) p.(Trp77*) Both (homozygous) - pathogenic g.69171307C>T g.69122156C>T 300_304delGACTC - LMOD3_000003 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Japan - >4m - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Arg83His) Unknown - benign g.69171290C>T g.69122139C>T LMOD3(NM_198271.5):c.248G>A (p.(Arg83His)) - LMOD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.248G>A r.(?) p.(Arg83His) Parent #1 - benign g.69171290C>T g.69122139C>T - - LMOD3_000017 56 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35740823 Germline - 56/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 56 Mohammed Faruq
-/. - c.248G>A r.(?) p.(Arg83His) Unknown - benign g.69171290C>T - LMOD3(NM_198271.5):c.248G>A (p.(Arg83His)) - LMOD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.300_304del r.(?) p.(Thr101Argfs*4) Parent #1 - pathogenic g.69169202_69169206del g.69120051_69120055del - - LMOD3_000004 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >2m - - - 1 Johan den Dunnen
+/. 2 c.349C>T r.(?) p.(Gln117*) Both (homozygous) - pathogenic g.69169157G>A g.69120006G>A - - LMOD3_000007 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Japan - >10m - - - 1 Johan den Dunnen
+/. 2 c.349C>T r.(?) p.(Gln117*) Parent #1 - pathogenic g.69169157G>A g.69120006G>A - - LMOD3_000007 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >01y07m - - - 1 Johan den Dunnen
-?/. - c.426A>C r.(?) p.(Glu142Asp) Unknown - likely benign g.69169080T>G - LMOD3(NM_001304418.1):c.426A>C (p.(Glu142Asp)), LMOD3(NM_198271.4):c.426A>C (p.E142D) - LMOD3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426A>C r.(?) p.(Glu142Asp) Unknown - likely benign g.69169080T>G - LMOD3(NM_001304418.1):c.426A>C (p.(Glu142Asp)), LMOD3(NM_198271.4):c.426A>C (p.E142D) - LMOD3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.453_455del r.(?) p.(Glu151del) Unknown - VUS g.69169062_69169064del - LMOD3(NM_198271.3):c.453_455delAGA (p.(Glu151del)) - LMOD3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465_467del r.(?) p.(Asp157del) Unknown - likely benign g.69169050_69169052del - LMOD3(NM_198271.3):c.465_467delTGA (p.(Asp156del)) - LMOD3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505_509del r.(?) p.(Thr169GlnfsTer12) Unknown - VUS g.69169000_69169004del g.69119849_69119853del LMOD3(NM_198271.4):c.505_509delACGAA (p.T169Qfs*12) - LMOD3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.601_602del r.(?) p.(Asp201Glnfs*9) Parent #2 - pathogenic g.69168909_69168910del g.69119758_69119759del 601_602delGA - LMOD3_000006 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >2m - - - 1 Johan den Dunnen
+/. 2 c.723_733del r.(?) p.(Asp242Glufs*4) Parent #1 - pathogenic g.69168775_69168785del g.69119624_69119634del - - LMOD3_000008 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - America, south <00y00m28d - - - 1 Johan den Dunnen
-?/. - c.759T>C r.(?) p.(=) Unknown - likely benign g.69168747A>G - LMOD3(NM_198271.5):c.759T>C (p.(Pro253=)) - LMOD3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788T>C r.(?) p.(Ile263Thr) Parent #1 - likely benign g.69168718A>G g.69119567A>G - - LMOD3_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9835034 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.860del r.(?) p.(Phe287Serfs*3) Both (homozygous) - pathogenic g.69168647del g.69119496del - - LMOD3_000009 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Italy - 4m - - - 1 Johan den Dunnen
-/. - c.878G>A r.(?) p.(Gly293Asp) Parent #1 - benign g.69168628C>T g.69119477C>T - - LMOD3_000026 81 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111797345 Germline - 81/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 81 Mohammed Faruq
-/. - c.878G>A r.(?) p.(Gly293Asp) Unknown - benign g.69168628C>T - LMOD3(NM_001304418.1):c.878G>A (p.(Gly293Asp)) - LMOD3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.882dup r.(?) p.(Asp295ArgfsTer2) Unknown - pathogenic g.69168624dup g.69119473dup LMOD3(NM_198271.4):c.882dupA (p.D295Rfs*2) - LMOD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.882dup r.(?) p.(Asp295ArgfsTer2) Unknown - pathogenic g.69168624dup - LMOD3(NM_198271.4):c.882dupA (p.D295Rfs*2) - LMOD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.976G>C r.(?) p.(Gly326Arg) Parent #1 - pathogenic g.69168530C>G g.69119379C>G - - LMOD3_000010 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Ecuador - 1m15d - - - 1 Johan den Dunnen
+/. 2 c.976G>C r.(?) p.(Gly326Arg) Parent #2 - pathogenic g.69168530C>G g.69119379C>G - - LMOD3_000010 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - America, south <00y00m28d - - - 1 Johan den Dunnen
+?/. 2 c.1030C>T r.(?) p.(Arg344Trp) Both (homozygous) - pathogenic (recessive) g.69168476G>A g.69119325G>A - - LMOD3_000029 - - - - Germline - - - - - DNA SEQ-NG-I - Gene panel of 139 genes related to neuromuscular disorders NEM10 - Segarra-Casas 2022, submitted - F yes Spain - - - - - 1 Alba Segarra Casas
+/. 2 c.1069G>T r.(?) p.(Glu357*) Both (homozygous) - pathogenic g.69168437C>A g.69119286C>A - - LMOD3_000011 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 brother 11a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents M ? Sweden - 5m - - - 2 Johan den Dunnen
+/. 2 c.1069G>T r.(?) p.(Glu357*) Both (homozygous) - pathogenic g.69168437C>A g.69119286C>A - - LMOD3_000011 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 brother 11b M ? Sweden - <00y00m28d - - - 1 Johan den Dunnen
+/. 2 c.1099_1100del r.(?) p.(Asn367Glnfs*11) Both (homozygous) - pathogenic g.69168407_69168408del g.69119256_69119257del 1099_1100delAA - LMOD3_000012 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 brother 12a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents M ? Afghanistan - 2m - - - 3 Johan den Dunnen
+/. 2 c.1099_1100del r.(?) p.(Asn367Glnfs*11) Both (homozygous) - pathogenic g.69168407_69168408del g.69119256_69119257del 1099_1100delAA - LMOD3_000012 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 13a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F ? Pakistan - 3m - - - 2 Johan den Dunnen
+/. 2 c.1099_1100del r.(?) p.(Asn367Glnfs*11) Both (homozygous) - pathogenic g.69168407_69168408del g.69119256_69119257del 1099_1100delAA - LMOD3_000012 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 brother 12b M ? Afghanistan - <00y00m28d - - - 1 Johan den Dunnen
+/. 2 c.1099_1100del r.(?) p.(Asn367Glnfs*11) Both (homozygous) - pathogenic g.69168407_69168408del g.69119256_69119257del 1099_1100delAA - LMOD3_000012 WB no protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 affected fetus 12c - ? Afghanistan - <0d - - - 1 Johan den Dunnen
+/. 2 c.1099_1100del r.(?) p.(Asn367Glnfs*11) Both (homozygous) - pathogenic g.69168407_69168408del g.69119256_69119257del 1099_1100delAA - LMOD3_000012 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 13b F ? Pakistan - <00y00m28d - - - 1 Johan den Dunnen
+/. 2 c.1103_1105del r.(?) p.(Asn368del) Parent #1 - pathogenic g.69168405_69168407del g.69119254_69119256del 1100_1102delACA - LMOD3_000013 WB truncated protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F no Australia - >10y - - - 2 Johan den Dunnen
+/. 2 c.1103_1105del r.(?) p.(Asn368del) Parent #1 - pathogenic g.69168405_69168407del g.69119254_69119256del 1100_1102delACA - LMOD3_000013 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14b F no Australia - >4y - - - 1 Johan den Dunnen
?/. - c.1193G>A r.(?) p.(Arg398Lys) Unknown - VUS g.69168313C>T g.69119162C>T - - LMOD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1201C>T r.(?) p.(Arg401*) Parent #2 - pathogenic g.69168305G>A g.69119154G>A - - LMOD3_000005 WB truncated protein detected PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F no Australia - >10y - - - 2 Johan den Dunnen
+/. 2 c.1201C>T r.(?) p.(Arg401*) Parent #2 - pathogenic g.69168305G>A g.69119154G>A - - LMOD3_000005 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14b F no Australia - >4y - - - 1 Johan den Dunnen
+/. 2 c.1218del r.(?) p.(Lys406Asnfs*11) Parent #2 - pathogenic g.69168292del g.69119141del - - LMOD3_000014 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >01y07m - - - 1 Johan den Dunnen
-?/. - c.1257G>C r.(?) p.(Met419Ile) Unknown - likely benign g.69168249C>G - LMOD3(NM_198271.4):c.1257G>C (p.M419I) - LMOD3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1372C>T r.(?) p.(Gln458*) Parent #2 - pathogenic g.69168134G>A g.69118983G>A - - LMOD3_000015 - PubMed: Yuen 2014, Journal: Yuen 2014 - - Germline yes - - - - DNA SEQ - - NEM - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Ecuador - 1m15d - - - 1 Johan den Dunnen
-?/. - c.1519G>A r.(?) p.(Glu507Lys) Unknown - likely benign g.69167987C>T g.69118836C>T LMOD3(NM_198271.3):c.1519G>A (p.(Glu507Lys)) - LMOD3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1572C>G r.(?) p.(Asn524Lys) Unknown - likely benign g.69167934G>C - LMOD3(NM_198271.3):c.1572C>G (p.(Asn524Lys)) - LMOD3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1645T>C r.(?) p.(Tyr549His) Unknown - VUS g.69167861A>G - LMOD3(NM_198271.4):c.1645T>C (p.Y549H) - LMOD3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1655C>A r.(?) p.(Pro552His) Parent #1 - benign g.69167851G>T g.69118700G>T - - LMOD3_000025 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145387235 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-?/. - c.1655C>A r.(?) p.(Pro552His) Unknown - likely benign g.69167851G>T - LMOD3(NM_001304418.1):c.1655C>A (p.(Pro552His)) - LMOD3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1664T>A r.(?) p.(Leu555Gln) Unknown - likely benign g.69158265A>T - LMOD3(NM_198271.3):c.1664T>A (p.(Leu555Gln)) - ARL6IP5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1679C>T r.(?) p.(Ala560Val) Unknown - likely benign g.69158250G>A - LMOD3(NM_198271.4):c.1679C>T (p.A560V) - ARL6IP5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)


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