Full data view for gene MASP2

Information The variants shown are described using the NM_006610.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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     

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Owner     
+/. - c.-1592736_*1886941del r.0? p.0? Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.231C>T r.(?) p.(Val77=) Unknown - likely benign g.11106951G>A g.11046894G>A MASP2(NM_006610.4):c.231C>T (p.V77=) - MASP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234+6G>A r.(=) p.(=) Unknown - likely benign g.11106942C>T g.11046885C>T MASP2(NM_006610.3):c.234+6G>A - MASP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234+13C>T r.(=) p.(=) Unknown - likely benign g.11106935G>A g.11046878G>A MASP2(NM_006610.4):c.234+13C>T - MASP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242C>A r.(?) p.(Ser81Ter) Unknown - VUS g.11106783G>T - MASP2(NM_006610.3):c.242C>A (p.S81*), MASP2(NM_006610.4):c.242C>A (p.S81*) - MASP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.242C>A r.(?) p.(Ser81Ter) Unknown - likely pathogenic g.11106783G>T - MASP2(NM_006610.3):c.242C>A (p.S81*), MASP2(NM_006610.4):c.242C>A (p.S81*) - MASP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352C>T r.(?) p.(Arg118Cys) Unknown - VUS g.11106673G>A g.11046616G>A MASP2(NM_006610.3):c.352C>T (p.R118C), MASP2(NM_006610.4):c.352C>T (p.R118C) - MASP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352C>T r.(?) p.(Arg118Cys) Unknown - VUS g.11106673G>A g.11046616G>A MASP2(NM_006610.3):c.352C>T (p.R118C), MASP2(NM_006610.4):c.352C>T (p.R118C) - MASP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.359A>G r.(?) p.(Asp120Gly) Unknown - benign g.11106666T>C g.11046609T>C MASP2(NM_006610.4):c.359A>G (p.D120G) - MASP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.359A>G r.(?) p.(Asp120Gly) Parent #1 - VUS g.11106666T>C g.11046609T>C - - MASP2_000010 conflicting interpretations of pathogenicity; 15 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72550870 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
?/. - c.359A>G r.(?) p.(Asp120Gly) Both (homozygous) - VUS g.11106666T>C g.11046609T>C - - MASP2_000010 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72550870 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
-?/. - c.383C>T r.(?) p.(Thr128Met) Unknown - likely benign g.11106642G>A - MASP2(NM_006610.4):c.383C>T (p.T128M) - MASP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408C>T r.(?) p.(Ala136=) Unknown - benign g.11106617G>A - MASP2(NM_006610.4):c.408C>T (p.A136=) - MASP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.446C>T r.(?) p.(Ala149Val) Unknown - likely benign g.11105563G>A g.11045506G>A MASP2(NM_006610.4):c.446C>T (p.A149V) - MASP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467G>A r.(?) p.(Cys156Tyr) Parent #1 - VUS g.11105542C>T g.11045485C>T - - MASP2_000023 conflicting interpretations of pathogenicity; 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41307788 Germline - 31/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 31 Mohammed Faruq
-/. - c.470A>G r.(?) p.(His157Arg) Unknown - benign g.11105539T>C g.11045482T>C MASP2(NM_006610.4):c.470A>G (p.H157R) - MASP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659G>A r.(?) p.(Gly220Glu) Unknown - VUS g.11103478C>T - MASP2(NM_006610.4):c.659G>A (p.G220E) - MASP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.742-12C>T r.(=) p.(=) Unknown - benign g.11103091G>A g.11043034G>A MASP2(NM_006610.4):c.742-12C>T - MASP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791C>T r.(?) p.(Pro264Leu) Unknown - VUS g.11103030G>A - MASP2(NM_006610.3):c.791C>T (p.P264L) - MASP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828C>G r.(?) p.(Ile276Met) Unknown - likely benign g.11102993G>C g.11042936G>C MASP2(NM_006610.3):c.828C>G (p.I276M), MASP2(NM_006610.4):c.828C>G (p.I276M) - MASP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828C>G r.(?) p.(Ile276Met) Unknown - likely benign g.11102993G>C - MASP2(NM_006610.3):c.828C>G (p.I276M), MASP2(NM_006610.4):c.828C>G (p.I276M) - MASP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.881C>T r.(?) p.(Thr294Met) Unknown - benign g.11102940G>A g.11042883G>A MASP2(NM_006610.3):c.881C>T (p.T294M) - MASP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.881C>T r.(?) p.(Thr294Met) Unknown - benign g.11102940G>A - MASP2(NM_006610.3):c.881C>T (p.T294M) - MASP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1111G>T r.(?) p.(Asp371Tyr) Unknown - benign g.11090916C>A g.11030859C>A MASP2(NM_006610.4):c.1111G>T (p.D371Y) - MASP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142C>T r.(?) p.(Thr381Ile) Unknown - VUS g.11090885G>A g.11030828G>A MASP2(NM_006610.3):c.1142C>T (p.T381I), MASP2(NM_006610.4):c.1142C>T (p.T381I) - MASP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142C>T r.(?) p.(Thr381Ile) Unknown - VUS g.11090885G>A - MASP2(NM_006610.3):c.1142C>T (p.T381I), MASP2(NM_006610.4):c.1142C>T (p.T381I) - MASP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187G>A r.(?) p.(Cys396Tyr) Unknown - VUS g.11090840C>T g.11030783C>T MASP2(NM_006610.4):c.1187G>A (p.C396Y) - MASP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1204A>G r.(?) p.(Thr402Ala) Unknown - likely benign g.11090823T>C g.11030766T>C MASP2(NM_006610.3):c.1204A>G (p.T402A) - MASP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1207A>C r.(?) p.(Met403Leu) Unknown - likely benign g.11090820T>G g.11030763T>G MASP2(NM_006610.4):c.1207A>C (p.M403L) - MASP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1243G>A r.(?) p.(Asp415Asn) Unknown - benign g.11090287C>T - MASP2(NM_006610.4):c.1243G>A (p.D415N) - MASP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1244_1246del r.(?) p.(Asp415del) Unknown - likely pathogenic g.11090286_11090288del g.11030229_11030231del NM_006610.3(MASP2):c.1244_1246del p.(Asp415del) - MASP2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-760A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.1276T>C r.(?) p.(Ser426Pro) Unknown - likely benign g.11090254A>G g.11030197A>G MASP2(NM_006610.3):c.1276T>C (p.S426P) - MASP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1287C>G r.(?) p.(Val429=) Unknown - likely benign g.11090243G>C g.11030186G>C MASP2(NM_006610.3):c.1287C>G (p.V429=) - MASP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1289_1293del r.(?) p.(Cys430Serfs*24) Unknown - likely pathogenic g.11090237_11090241del - MASP2(NM_006610.4):c.1289_1293delGTGAG (p.C430Sfs*24) - MASP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1361G>A r.(?) p.(Gly454Asp) Unknown - VUS g.11087642C>T g.11027585C>T MASP2(NM_006610.4):c.1361G>A (p.G454D) - MASP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366T>C r.(?) p.(Phe456Leu) Unknown - VUS g.11087637A>G - MASP2(NM_006610.4):c.1366T>C (p.F456L) - MASP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1479C>T r.(?) p.(Ser493=) Unknown - benign g.11087524G>A g.11027467G>A MASP2(NM_006610.4):c.1479C>T (p.S493=) - MASP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1538G>A r.(?) p.(Trp513*) Unknown - likely pathogenic g.11087465C>T - MASP2(NM_006610.4):c.1538G>A (p.(Trp513*)) - MASP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1617T>C r.(?) p.(Asn539=) Unknown - benign g.11087386A>G - MASP2(NM_006610.4):c.1617T>C (p.N539=) - MASP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1656_1659del r.(?) p.(Leu553Glnfs*9) Unknown - VUS g.11087346_11087349del - MASP2(NM_006610.3):c.1656_1659delTCTG (p.L553Qfs*9) - MASP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1727C>T r.(?) p.(Thr576Ile) Unknown - VUS g.11087276G>A g.11027219G>A MASP2(NM_006610.3):c.1727C>T (p.T576I) - MASP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1731A>C r.(?) p.(Gln577His) Parent #1 - likely benign g.11087272T>G g.11027215T>G - - MASP2_000022 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144471433 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
-/. - c.1731A>C r.(?) p.(Gln577His) Unknown - benign g.11087272T>G - MASP2(NM_006610.4):c.1731A>C (p.Q577H) - MASP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1733G>C r.(?) p.(Arg578Thr) Unknown - likely benign g.11087270C>G g.11027213C>G MASP2(NM_006610.3):c.1733G>C (p.R578T) - MASP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1834G>T r.(?) p.(Val612Leu) Unknown - likely benign g.11087169C>A - MASP2(NM_006610.4):c.1834G>T (p.V612L) - MASP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4329T>C r.(=) p.(=) Unknown - likely pathogenic g.11082613A>G g.11022556A>G TARDBP(NM_007375.3):c.1147A>G (p.I383V), TARDBP(NM_007375.4):c.1147A>G (p.I383V) - TARDBP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4329T>C r.(=) p.(=) Unknown - likely pathogenic g.11082613A>G g.11022556A>G TARDBP(NM_007375.3):c.1147A>G (p.I383V), TARDBP(NM_007375.4):c.1147A>G (p.I383V) - TARDBP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4329T>C r.(=) p.(=) Unknown - likely pathogenic g.11082613A>G g.11022556A>G TARDBP(NM_007375.3):c.1147A>G (p.I383V), TARDBP(NM_007375.4):c.1147A>G (p.I383V) - TARDBP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4378G>C r.(=) p.(=) Unknown - likely benign g.11082564C>G g.11022507C>G TARDBP(NM_007375.3):c.1098C>G (p.A366=), TARDBP(NM_007375.4):c.1098C>G (p.A366=) - TARDBP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4378G>C r.(=) p.(=) Unknown - likely benign g.11082564C>G - TARDBP(NM_007375.3):c.1098C>G (p.A366=), TARDBP(NM_007375.4):c.1098C>G (p.A366=) - TARDBP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4421T>C r.(=) p.(=) Unknown - pathogenic g.11082521A>G g.11022464A>G TARDBP(NM_007375.3):c.1055A>G (p.N352S), TARDBP(NM_007375.4):c.1055A>G (p.(Asn352Ser), p.N352S) - TARDBP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4421T>C r.(=) p.(=) Unknown - likely pathogenic g.11082521A>G - TARDBP(NM_007375.3):c.1055A>G (p.N352S), TARDBP(NM_007375.4):c.1055A>G (p.(Asn352Ser), p.N352S) - TARDBP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4421T>C r.(=) p.(=) Unknown - pathogenic g.11082521A>G - TARDBP(NM_007375.3):c.1055A>G (p.N352S), TARDBP(NM_007375.4):c.1055A>G (p.(Asn352Ser), p.N352S) - TARDBP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4421T>C r.(=) p.(=) Unknown - pathogenic g.11082521A>G - TARDBP(NM_007375.3):c.1055A>G (p.N352S), TARDBP(NM_007375.4):c.1055A>G (p.(Asn352Ser), p.N352S) - TARDBP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4448T>C r.(=) p.(=) Unknown - pathogenic g.11082494A>G g.11022437A>G TARDBP(NM_007375.3):c.1028A>G (p.Q343R) - TARDBP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4501G>A r.(=) p.(=) Unknown - likely benign g.11082441C>T - TARDBP(NM_007375.3):c.975C>T (p.A325=) - MASP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4531C>T r.(=) p.(=) Unknown - likely benign g.11082411G>A g.11022354G>A TARDBP(NM_007375.3):c.945G>A (p.A315=) - TARDBP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4531C>T r.(=) p.(=) Unknown - likely benign g.11082411G>A - TARDBP(NM_007375.3):c.945G>A (p.A315=) - TARDBP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4593C>A r.(=) p.(=) Unknown - VUS g.11082349G>T g.11022292G>T TARDBP(NM_007375.3):c.883G>T (p.G295C) - TARDBP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4595C>A r.(=) p.(=) Unknown - pathogenic g.11082347G>T - TARDBP(NM_007375.4):c.881G>T (p.G294V) - TARDBP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4676T>C r.(=) p.(=) Unknown - VUS g.11082266A>G g.11022209A>G TARDBP(NM_007375.3):c.800A>G (p.N267S) - TARDBP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4689T>C r.(=) p.(=) Unknown - pathogenic g.11082253A>G g.11022196A>G TARDBP(NM_007375.3):c.787A>G (p.K263E) - TARDBP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4887del r.(?) p.(=) Unknown - benign g.11082055del g.11021998del TARDBP(NM_007375.4):c.715-126delG - MASP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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