"GeneDx"[submitter] AND "MASP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 1244207	NM_001879.6(MASP1):c.*291T>C	MASP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1209113	NM_001879.6(MASP1):c.1929G>A (p.Ala643=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1204572	NM_001879.6(MASP1):c.1910-185G>T	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272908	NM_001879.6(MASP1):c.1910-235G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230993	NM_001879.6(MASP1):c.1910-236dup	MASP1	Duplication (intron variant)	not provided	GBenign
Select item 1199019	NM_001879.6(MASP1):c.1910-238_1910-236dup	MASP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1219212	NM_001879.6(MASP1):c.1910-239_1910-238insG	MASP1	Insertion (intron variant)	not provided	GLikely benign
Select item 1224913	NM_001879.6(MASP1):c.1909+188G>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238391	NM_001879.6(MASP1):c.1909+124G>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210531	NM_001879.6(MASP1):c.1909+107G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328784	NM_001879.6(MASP1):c.1909+50G>T	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1710865	NM_001879.6(MASP1):c.1909+5G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222412	NM_001879.6(MASP1):c.1810-34G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259259	NM_001879.6(MASP1):c.1810-269A>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290828	NM_001879.6(MASP1):c.1809+118C>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194974	NM_001879.6(MASP1):c.1741+296G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212304	NM_001879.6(MASP1):c.1741+74C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250766	NM_001879.6(MASP1):c.1703T>C (p.Val568Ala)	MASP1 (V568A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1188798	NM_001879.6(MASP1):c.1647C>T (p.Phe549=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1252336	NM_001879.6(MASP1):c.1555+306C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811674	NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly)	MASP1 (S510G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1209344	NM_001879.6(MASP1):c.1442-18G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199677	NM_001879.6(MASP1):c.1442-182C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234803	NM_001879.6(MASP1):c.1441+320T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265625	NM_001879.6(MASP1):c.1441+267G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212699	NM_001879.6(MASP1):c.1441+190G>C	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231398	NM_001879.6(MASP1):c.1441+138G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186527	NM_001879.6(MASP1):c.1441+137G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392645	NM_001879.6(MASP1):c.1325C>T (p.Ser442Phe)	MASP1 (S442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263991	NM_001879.6(MASP1):c.1304-116G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269766	NM_001879.6(MASP1):c.1304-189C>G	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221179	NM_139125.4(MASP1):c.*246G>C	MASP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1208369	NM_139125.4(MASP1):c.*228T>A	MASP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1276768	NM_139125.4(MASP1):c.*151G>A	MASP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 846202	NM_139125.4(MASP1):c.1993G>A (p.Gly665Ser)	MASP1 (G665S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1167647	NM_139125.4(MASP1):c.1851G>A (p.Leu617=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 697635	NM_139125.4(MASP1):c.1824T>C (p.Ser608=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +1 more	GBenign/Likely benign
Select item 285006	NM_139125.4(MASP1):c.1746G>A (p.Pro582=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +2 more	GBenign
Select item 1166550	NM_139125.4(MASP1):c.1727G>T (p.Arg576Met)	MASP1 (R576M)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1 +1 more	GBenign
Select item 2136249	NM_139125.4(MASP1):c.1708A>G (p.Met570Val)	MASP1 (M570V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1320836	NM_139125.4(MASP1):c.1657G>A (p.Asp553Asn)	MASP1 (D553N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 449778	NM_139125.4(MASP1):c.1591dup (p.Ala531fs)	MASP1 (A531fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 191186	NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter)	MASP1 (R526*)	Single nucleotide variant (nonsense +2 more)	3MC syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 702180	NM_139125.4(MASP1):c.1552G>A (p.Val518Ile)	MASP1 (V518I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 392644	NM_139125.4(MASP1):c.1522G>A (p.Val508Met)	MASP1 (V508M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 595055	NM_139125.4(MASP1):c.1521G>A (p.Thr507=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 463035	NM_139125.4(MASP1):c.1386G>A (p.Pro462=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1164248	NM_139125.4(MASP1):c.1374T>C (p.Pro458=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +1 more	GBenign
Select item 2662103	NM_139125.4(MASP1):c.1358G>T (p.Gly453Val)	MASP1 (G453V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1164249	NM_139125.4(MASP1):c.1335C>T (p.Ser445=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +1 more	GBenign
Select item 704781	NM_139125.4(MASP1):c.1322G>A (p.Arg441His)	MASP1 (R441H)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1 +1 more	GLikely benign
Select item 1211408	NM_139125.4(MASP1):c.1304-320T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223359	NM_139125.4(MASP1):c.1303+227C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 463034	NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu)	MASP1 (G426E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1216697	NM_139125.4(MASP1):c.1228+264_1228+266del	MASP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2575846	NM_139125.4(MASP1):c.1190G>A (p.Cys397Tyr)	MASP1 (C397Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392926	NM_139125.4(MASP1):c.1136C>T (p.Thr379Ile)	MASP1 (T379I)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 286762	NM_139125.4(MASP1):c.1125C>T (p.His375=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1318351	NM_139125.4(MASP1):c.1100G>A (p.Cys367Tyr)	MASP1 (C367Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1239127	NM_139125.4(MASP1):c.1091-69T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215367	NM_139125.4(MASP1):c.1091-315A>G	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277494	NM_139125.4(MASP1):c.1090+3218del	MASP1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281475	NM_139125.4(MASP1):c.1090+3151dup	MASP1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234044	NM_139125.4(MASP1):c.1090+2771T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281777	NM_139125.4(MASP1):c.1090+97C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231194	NM_139125.4(MASP1):c.1090+60G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275058	NM_139125.4(MASP1):c.1011+206dup	MASP1	Duplication (intron variant)	not provided	GBenign
Select item 1210589	NM_139125.4(MASP1):c.1011+206_1011+207dup	MASP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1229099	NM_139125.4(MASP1):c.1011+50dup	MASP1	Duplication (intron variant)	not provided	GBenign
Select item 1319220	NM_139125.4(MASP1):c.937G>A (p.Glu313Lys)	MASP1 (E313K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 290067	NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)	MASP1 (L304I)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +2 more	GUncertain significance
Select item 1316758	NM_139125.4(MASP1):c.893-14T>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign/Likely benign
Select item 1253155	NM_139125.4(MASP1):c.893-94T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198214	NM_139125.4(MASP1):c.893-293C>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236978	NM_139125.4(MASP1):c.893-313G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246512	NM_139125.4(MASP1):c.892+259T>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249449	NM_139125.4(MASP1):c.892+148T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285534	NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)	MASP1 (R288Q)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1276770	NM_139125.4(MASP1):c.745-193T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257735	NM_139125.4(MASP1):c.744+297C>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283865	NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys)	MASP1 (Y244C)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +2 more	GUncertain significance
Select item 2499685	NM_139125.4(MASP1):c.596G>A (p.Ser199Asn)	MASP1 (S199N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1185884	NM_139125.4(MASP1):c.547+267T>A	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250969	NM_139125.4(MASP1):c.547+246A>G	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271855	NM_139125.4(MASP1):c.547+245C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218860	NM_139125.4(MASP1):c.547+14A>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign/Likely benign
Select item 531898	NM_139125.4(MASP1):c.417T>C (p.Asp139=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1190888	NM_139125.4(MASP1):c.416-207G>C	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250733	NM_139125.4(MASP1):c.415+67G>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369092	NM_139125.4(MASP1):c.269T>C (p.Phe90Ser)	MASP1 (F90S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 546181	NM_139125.4(MASP1):c.238-2A>T	MASP1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 702286	NM_139125.4(MASP1):c.238-9A>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign/Likely benign
Select item 1182832	NM_139125.4(MASP1):c.238-131C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252783	NM_139125.4(MASP1):c.237+118T>C	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 702560	NM_139125.4(MASP1):c.64G>A (p.Val22Met)	LOC108281160, MASP1 (V22M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1328892	NM_139125.4(MASP1):c.6-133C>G	LOC108281160, MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246637	NM_139125.4(MASP1):c.6-339A>G	LOC108281160, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign

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