ClinVar for MedGen (Select 167100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362779	NM_139125.4(MASP1):c.1763G>A (p.Gly588Asp)	MASP1 (G588D)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 3068250	NM_139125.4(MASP1):c.415+19_415+20del	MASP1	Deletion (intron variant)	3MC syndrome 1	GUncertain significance
Select item 3065657	NM_001879.6(MASP1):c.1943G>T (p.Gly648Val)	MASP1 (G648V)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 2918045	NM_139125.4(MASP1):c.1012-10C>A	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GLikely benign
Select item 2897709	NM_139125.4(MASP1):c.1228+12A>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GLikely benign
Select item 2893315	NM_139125.4(MASP1):c.415+19T>C	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GLikely benign
Select item 2877439	NM_139125.4(MASP1):c.1704C>T (p.His568=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 2851032	NM_139125.4(MASP1):c.415+13A>C	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GBenign
Select item 2845930	NM_139125.4(MASP1):c.745-18C>T	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GLikely benign
Select item 2838138	NM_139125.4(MASP1):c.2061G>C (p.Gly687=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 2814606	NM_139125.4(MASP1):c.753T>G (p.Val251=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1	GBenign
Select item 2773019	NM_139125.4(MASP1):c.2061G>A (p.Gly687=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 2721512	NM_139125.4(MASP1):c.1419G>C (p.Ser473=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 2713407	NM_139125.4(MASP1):c.444C>T (p.Asp148=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1	GLikely benign
Select item 2654349	NM_139125.4(MASP1):c.267C>T (p.Thr89=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1 +1 more	GLikely benign
Select item 2654347	NM_139125.4(MASP1):c.1155C>T (p.Asn385=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1 +1 more	GBenign/Likely benign
Select item 2445991	NM_139125.4(MASP1):c.73A>T (p.Asn25Tyr)	LOC108281160, MASP1 (N25Y)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 2433646	NM_139125.4(MASP1):c.773C>T (p.Pro258Leu)	MASP1 (P258L)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 2168658	NM_139125.4(MASP1):c.2076C>A (p.Cys692Ter)	MASP1 (C692*)	Single nucleotide variant (nonsense +2 more)	3MC syndrome 1	GUncertain significance
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 2094948	NM_139125.4(MASP1):c.579G>A (p.Arg193=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1	GLikely benign
Select item 2075465	NM_139125.4(MASP1):c.1091-10_1091-8del	MASP1	Microsatellite (intron variant)	3MC syndrome 1	GUncertain significance
Select item 2051878	NM_139125.4(MASP1):c.1832G>A (p.Arg611Gln)	MASP1 (R611Q)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 1973271	NM_139125.4(MASP1):c.953A>C (p.Lys318Thr)	MASP1 (K318T)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
Select item 1972947	NM_139125.4(MASP1):c.1586C>T (p.Ser529Leu)	MASP1 (S529L)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 1926503	NM_139125.4(MASP1):c.2169G>A (p.Glu723=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 1723297	NM_001879.6(MASP1):c.1498del (p.Asp500fs)	MASP1 (D500fs)	Deletion (frameshift variant)	3MC syndrome 1	GLikely pathogenic
Select item 1655983	NM_139125.4(MASP1):c.1012-17T>C	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign
Select item 1650501	NM_139125.4(MASP1):c.745-27TC[9]	MASP1	Microsatellite (intron variant)	3MC syndrome 1	GLikely benign
Select item 1625340	NM_139125.4(MASP1):c.1091-11T>C	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GBenign
Select item 1509502	NM_139125.4(MASP1):c.1216A>C (p.Asn406His)	MASP1 (N406H)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +1 more	GUncertain significance
Select item 1449827	NM_139125.4(MASP1):c.1976C>A (p.Thr659Lys)	MASP1 (T659K)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 1382729	NM_139125.4(MASP1):c.491A>G (p.Tyr164Cys)	MASP1 (Y164C)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
Select item 1334067	NM_139125.4(MASP1):c.1774G>A (p.Gly592Ser)	MASP1 (G592S)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 1330433	NM_139125.4(MASP1):c.1530A>C (p.Pro510=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +1 more	GLikely benign
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 1285538	NM_139125.4(MASP1):c.1780G>A (p.Gly594Ser)	MASP1 (G594S)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
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 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 1176166	NM_139125.4(MASP1):c.1352T>C (p.Ile451Thr)	MASP1 (I451T)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 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 1164250	NM_139125.4(MASP1):c.5+4C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign
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 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 1134404	NM_139125.4(MASP1):c.1350C>T (p.Ile450=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 1094010	NM_139125.4(MASP1):c.318G>A (p.Val106=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1 +1 more	GLikely benign
Select item 1037785	NM_139125.4(MASP1):c.49G>T (p.Ala17Ser)	LOC108281160, MASP1 (A17S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029544	NM_001879.6(MASP1):c.1809+4A>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GUncertain significance
Select item 1029389	NM_001879.6(MASP1):c.1358G>A (p.Arg453His)	MASP1 (R453H)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 1026839	NM_139125.4(MASP1):c.722C>T (p.Pro241Leu)	MASP1 (P241L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1015891	NM_139125.4(MASP1):c.1910G>A (p.Arg637His)	MASP1 (R637H)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 992549	NM_139125.4(MASP1):c.2183G>A (p.Arg728Gln)	MASP1 (R728Q)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GUncertain significance
Select item 981738	NM_139125.4(MASP1):c.913C>T (p.Gln305Ter)	MASP1 (Q305*)	Single nucleotide variant (nonsense +1 more)	3MC syndrome 1	GPathogenic
Select item 932000	NM_139125.4(MASP1):c.1492dup (p.Val498fs)	MASP1 (V498fs)	Duplication (frameshift variant +2 more)	3MC syndrome 1	GLikely pathogenic
Select item 931999	NM_139125.4(MASP1):c.992_993del (p.Thr331fs)	MASP1 (T331fs)	Microsatellite (frameshift variant +1 more)	3MC syndrome 1	GLikely pathogenic
Select item 931653	NM_001879.6(MASP1):c.1809+1G>A	MASP1	Single nucleotide variant (splice donor variant)	3MC syndrome 1	GLikely pathogenic
Select item 872663	NM_139125.4(MASP1):c.1931C>T (p.Thr644Met)	MASP1 (T644M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 850576	NM_139125.4(MASP1):c.1226C>G (p.Thr409Arg)	MASP1 (T409R)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
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 840149	NM_139125.4(MASP1):c.125G>A (p.Ser42Asn)	LOC108281160, MASP1 (S42N)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 837910	NM_139125.4(MASP1):c.1508G>A (p.Arg503His)	MASP1 (R503H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 828007	NM_139125.4(MASP1):c.1090+2877G>A	MASP1 (D368N)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 807629	NM_139125.4(MASP1):c.518del (p.Ile173fs)	MASP1 (I173fs)	Deletion (frameshift variant +1 more)	3MC syndrome 1	GPathogenic
Select item 774367	NM_139125.4(MASP1):c.1932G>A (p.Thr644=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 772668	NM_139125.4(MASP1):c.1992C>T (p.Ser664=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 722026	NM_139125.4(MASP1):c.1012-9T>C	MASP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 708212	NM_139125.4(MASP1):c.1446G>T (p.Gly482=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 707990	NM_139125.4(MASP1):c.1304-10C>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GLikely benign
Select item 707615	NM_139125.4(MASP1):c.1869C>T (p.Pro623=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1	GLikely benign
Select item 706689	NM_139125.4(MASP1):c.510C>T (p.Phe170=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1	GBenign
Select item 706108	NM_139125.4(MASP1):c.1959C>T (p.Tyr653=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	3MC syndrome 1 +1 more	GLikely benign
Select item 705206	NM_139125.4(MASP1):c.637C>T (p.Leu213=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1	GLikely benign
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 702778	NM_139125.4(MASP1):c.1467G>A (p.Ala489=)	MASP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
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 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 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 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 650705	NC_000003.12:g.(?_187235664)_(187256880_?)del	MASP1	Deletion	3MC syndrome 1	GPathogenic
Select item 646164	NM_139125.4(MASP1):c.322C>T (p.Leu108Phe)	MASP1 (L108F)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
Select item 636655	NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)	MASP1 (R503C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626136	NM_001879.6(MASP1):c.1442-5C>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 572584	NM_139125.4(MASP1):c.812dup (p.Ser272fs)	MASP1 (S272fs)	Duplication (frameshift variant +1 more)	3MC syndrome 1	GPathogenic
Select item 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
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 531897	NM_139125.4(MASP1):c.1062G>A (p.Thr354=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 501888	NM_139125.4(MASP1):c.315G>C (p.Glu105Asp)	MASP1 (E105D)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1 +2 more	GUncertain significance
Select item 499960	NM_139125.4(MASP1):c.1143T>C (p.Ser381=)	MASP1	Single nucleotide variant (synonymous variant +1 more)	3MC syndrome 1 +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 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 463033	NM_139125.4(MASP1):c.1187C>T (p.Ser396Phe)	MASP1 (S396F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392926	NM_139125.4(MASP1):c.1136C>T (p.Thr379Ile)	MASP1 (T379I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 288148	NM_139125.4(MASP1):c.1520C>T (p.Thr507Met)	MASP1 (T507M)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1 +2 more	GUncertain significance
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

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