MASP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 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 636358	NM_001879.6(MASP1):c.2074C>T (p.Gln692Ter)	MASP1 (Q692*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1298947	NM_001879.6(MASP1):c.1984C>T (p.Leu662=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546692	NM_001879.6(MASP1):c.1958T>C (p.Leu653Pro)	MASP1 (L653P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1209113	NM_001879.6(MASP1):c.1929G>A (p.Ala643=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036392	NM_001879.6(MASP1):c.1910-8T>G	MASP1	Single nucleotide variant (intron variant)	MASP1-related disorder	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)	MASP1-related disorder +1 more	GBenign/Likely benign
Select item 3054844	NM_001879.6(MASP1):c.1909+2T>A	MASP1	Single nucleotide variant (splice donor variant)	MASP1-related disorder	GUncertain significance
Select item 2607933	NM_001879.6(MASP1):c.1840T>C (p.Cys614Arg)	MASP1 (C614R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398277	NM_001879.6(MASP1):c.1820C>T (p.Pro607Leu)	MASP1 (P607L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 1290828	NM_001879.6(MASP1):c.1809+118C>A	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029544	NM_001879.6(MASP1):c.1809+4A>G	MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1	GUncertain significance
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 2654343	NM_001879.6(MASP1):c.1788G>C (p.Arg596Ser)	MASP1 (R596S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2213758	NM_001879.6(MASP1):c.1788G>T (p.Arg596Ser)	MASP1 (R596S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265138	NM_001879.6(MASP1):c.1787G>T (p.Arg596Met)	MASP1 (R596M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230674	NM_001879.6(MASP1):c.1787G>A (p.Arg596Lys)	MASP1 (R596K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401030	NM_001879.6(MASP1):c.1774C>G (p.Gln592Glu)	MASP1 (Q592E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654344	NM_001879.6(MASP1):c.1770del (p.Lys591fs)	MASP1 (K591fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2654345	NM_001879.6(MASP1):c.1744G>A (p.Ala582Thr)	MASP1 (A582T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 +2 more	GBenign
Select item 2243434	NM_001879.6(MASP1):c.1702G>A (p.Val568Met)	MASP1 (V568M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1188798	NM_001879.6(MASP1):c.1647C>T (p.Phe549=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256756	NM_001879.6(MASP1):c.1603G>A (p.Val535Ile)	MASP1 (V535I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654346	NM_001879.6(MASP1):c.1602C>T (p.Gly534=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045187	NM_001879.6(MASP1):c.1599C>T (p.Leu533=)	MASP1	Single nucleotide variant (synonymous variant)	MASP1-related disorder	GLikely benign
Select item 2300726	NM_001879.6(MASP1):c.1594C>G (p.His532Asp)	MASP1 (H532D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328209	NM_001879.6(MASP1):c.1580A>G (p.Asp527Gly)	MASP1 (D527G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367032	NM_001879.6(MASP1):c.1574G>A (p.Arg525Gln)	MASP1 (R525Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3057458	NM_001879.6(MASP1):c.1573C>T (p.Arg525Trp)	MASP1 (R525W)	Single nucleotide variant (missense variant)	MASP1-related disorder	GLikely benign
Select item 2334370	NM_001879.6(MASP1):c.1562A>G (p.His521Arg)	MASP1 (H521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252336	NM_001879.6(MASP1):c.1555+306C>T	MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238369	NM_001879.6(MASP1):c.1553T>C (p.Leu518Pro)	MASP1 (L518P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811674	NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly)	MASP1 (S510G)	Single nucleotide variant (missense variant)	MASP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2244462	NM_001879.6(MASP1):c.1510C>T (p.Arg504Cys)	MASP1 (R504C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319357	NM_001879.6(MASP1):c.1500T>A (p.Asp500Glu)	MASP1 (D500E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723297	NM_001879.6(MASP1):c.1498del (p.Asp500fs)	MASP1 (D500fs)	Deletion (frameshift variant)	3MC syndrome 1	GLikely pathogenic
Select item 2460361	NM_001879.6(MASP1):c.1489G>C (p.Asp497His)	MASP1 (D497H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027133	NM_001879.6(MASP1):c.1479C>T (p.His493=)	MASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346907	NM_001879.6(MASP1):c.1465G>A (p.Ala489Thr)	MASP1 (A489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123731	NM_001879.6(MASP1):c.1462G>A (p.Ala488Thr)	MASP1 (A488T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1029389	NM_001879.6(MASP1):c.1358G>A (p.Arg453His)	MASP1 (R453H)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 3123727	NM_001879.6(MASP1):c.1328G>A (p.Arg443Gln)	MASP1 (R443Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 650705	NC_000003.12:g.(?_187235664)_(187256880_?)del	MASP1	Deletion	3MC syndrome 1	GPathogenic
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 706688	NM_139125.4(MASP1):c.2179G>A (p.Glu727Lys)	MASP1 (E727K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1926503	NM_139125.4(MASP1):c.2169G>A (p.Glu723=)	MASP1	Single nucleotide variant (intron variant +2 more)	3MC syndrome 1	GLikely benign
Select item 2289614	NM_139125.4(MASP1):c.2168A>G (p.Glu723Gly)	MASP1 (E723G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3123738	NM_139125.4(MASP1):c.2089G>A (p.Val697Ile)	MASP1 (V697I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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 30077	NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg)	MASP1 (G687R)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GPathogenic
Select item 225410	NM_139125.4(MASP1):c.2034G>A (p.Trp678Ter)	MASP1 (W678*)	Single nucleotide variant (nonsense +2 more)	3MC syndrome 1	GUncertain significance
Select item 2318964	NM_139125.4(MASP1):c.2012T>C (p.Phe671Ser)	MASP1 (F671S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3123737	NM_139125.4(MASP1):c.2002T>C (p.Phe668Leu)	MASP1 (F668L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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