ClinVar for Gene (Select 10747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355910	NM_006610.4(MASP2):c.1796C>T (p.Thr599Ile)	MASP2, TARDBP (T599I)	Single nucleotide variant (missense variant)	MASP2-related disorder	GLikely benign
Select item 3353092	NM_006610.4(MASP2):c.5+10C>T	MASP2	Single nucleotide variant (intron variant)	MASP2-related disorder	GLikely benign
Select item 3293379	NM_006610.4(MASP2):c.1958T>C (p.Val653Ala)	MASP2, TARDBP (V653A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293378	NM_006610.4(MASP2):c.1882A>G (p.Ser628Gly)	MASP2, TARDBP (S628G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293377	NM_006610.4(MASP2):c.532C>A (p.Arg178Ser)	MASP2 (R178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247967	NC_000001.10:g.(?_11078770)_(11217368_?)dup	EXOSC10, MASP2 +3 more	Duplication	not provided	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3123759	NM_006610.4(MASP2):c.82G>A (p.Gly28Arg)	MASP2 (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123758	NM_006610.4(MASP2):c.718C>A (p.Leu240Met)	MASP2 (L240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123756	NM_006610.4(MASP2):c.508G>A (p.Gly170Ser)	MASP2 (G170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123755	NM_006610.4(MASP2):c.382A>G (p.Thr128Ala)	MASP2 (T128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123754	NM_006610.4(MASP2):c.369C>A (p.Asn123Lys)	MASP2 (N123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123753	NM_006610.4(MASP2):c.2053G>A (p.Asp685Asn)	MASP2, TARDBP (D685N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123751	NM_006610.4(MASP2):c.1946T>C (p.Val649Ala)	MASP2, TARDBP (V649A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123750	NM_006610.4(MASP2):c.1391G>A (p.Gly464Asp)	MASP2, TARDBP (G464D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123749	NM_006610.4(MASP2):c.1331G>A (p.Arg444His)	MASP2, TARDBP (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123748	NM_006610.4(MASP2):c.1315C>T (p.Arg439Cys)	MASP2, TARDBP (R439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123746	NM_006610.4(MASP2):c.1256C>T (p.Thr419Met)	MASP2, TARDBP (T419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123745	NM_006610.4(MASP2):c.1127G>A (p.Arg376Gln)	MASP2 (R376Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123744	NM_006610.4(MASP2):c.1085G>A (p.Ser362Asn)	MASP2 (S362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3058189	NM_006610.4(MASP2):c.1827G>A (p.Arg609=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3052063	NM_006610.4(MASP2):c.357C>T (p.Ser119=)	MASP2	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3050821	NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala)	MASP2, TARDBP (G464A)	Single nucleotide variant (missense variant)	MASP2-related disorder	GBenign
Select item 3047483	NM_006610.4(MASP2):c.1647G>A (p.Thr549=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3036600	NM_006610.4(MASP2):c.1857T>G (p.Ala619=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3033229	NM_006610.4(MASP2):c.1689G>A (p.Arg563=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3025596	NM_006610.4(MASP2):c.1773G>A (p.Pro591=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689403	NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)	MASP2, TARDBP (W418fs)	Indel (frameshift variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2689402	NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)	MASP2, TARDBP (G635R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638216	NM_006610.4(MASP2):c.39G>A (p.Ser13=)	MASP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638215	NM_006610.4(MASP2):c.1947G>T (p.Val649=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635890	NM_006610.4(MASP2):c.931G>A (p.Val311Ile)	MASP2 (V311I)	Single nucleotide variant (missense variant)	MASP2-related disorder	GUncertain significance
Select item 2632022	NM_006610.4(MASP2):c.1087+8_1087+10del	MASP2	Deletion (intron variant)	MASP2-related disorder	GUncertain significance
Select item 2621543	NM_006610.4(MASP2):c.25C>T (p.Leu9Phe)	MASP2 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621497	NM_006610.4(MASP2):c.1780G>C (p.Asp594His)	MASP2, TARDBP (D594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617382	NM_006610.4(MASP2):c.414C>A (p.Asp138Glu)	MASP2 (D138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556816	NM_006610.4(MASP2):c.1514T>C (p.Leu505Pro)	MASP2, TARDBP (L505P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552097	NM_006610.4(MASP2):c.1199T>G (p.Phe400Cys)	MASP2 (F400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527221	NM_006610.4(MASP2):c.1004T>C (p.Leu335Pro)	MASP2 (L335P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517157	NM_006610.4(MASP2):c.179A>G (p.Tyr60Cys)	MASP2 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491464	NM_006610.4(MASP2):c.876C>G (p.His292Gln)	MASP2 (H292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2433647	NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)	MASP2, TARDBP (W573C)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 2425168	NC_000001.10:g.(?_10535024)_(11107264_?)dup	C1orf127, CASZ1 +3 more	Duplication	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2408091	NM_006610.4(MASP2):c.1453G>A (p.Val485Ile)	MASP2, TARDBP (V485I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400438	NM_006610.4(MASP2):c.139T>C (p.Trp47Arg)	MASP2 (W47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389338	NM_006610.4(MASP2):c.895C>T (p.Pro299Ser)	MASP2 (P299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368308	NM_006610.4(MASP2):c.533G>A (p.Arg178His)	MASP2 (R178H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337204	NM_006610.4(MASP2):c.1853G>C (p.Cys618Ser)	MASP2, TARDBP (C618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320486	NM_006610.4(MASP2):c.431T>C (p.Val144Ala)	MASP2 (V144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304116	NM_006610.4(MASP2):c.1798G>A (p.Ala600Thr)	MASP2, TARDBP (A600T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301618	NM_006610.4(MASP2):c.767G>A (p.Gly256Asp)	MASP2 (G256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292226	NM_006610.4(MASP2):c.1864G>A (p.Glu622Lys)	MASP2, TARDBP (E622K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291183	NM_006610.4(MASP2):c.1138A>C (p.Ile380Leu)	MASP2 (I380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286297	NM_006610.4(MASP2):c.1923T>G (p.Asp641Glu)	MASP2, TARDBP (D641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284591	NM_006610.4(MASP2):c.1474G>A (p.Ala492Thr)	MASP2, TARDBP (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278740	NM_006610.4(MASP2):c.1702G>C (p.Gly568Arg)	MASP2, TARDBP (G568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276262	NM_006610.4(MASP2):c.1582G>A (p.Gly528Ser)	MASP2, TARDBP (G528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275479	NM_006610.4(MASP2):c.1411G>A (p.Ala471Thr)	MASP2, TARDBP (A471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265545	NM_006610.4(MASP2):c.616C>A (p.Pro206Thr)	MASP2 (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244463	NM_006610.4(MASP2):c.1309T>C (p.Ser437Pro)	MASP2, TARDBP (S437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220651	NM_006610.4(MASP2):c.2011A>C (p.Lys671Gln)	MASP2, TARDBP (K671Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213064	NM_006610.4(MASP2):c.223G>C (p.Asp75His)	MASP2 (D75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1696493	NM_006610.4(MASP2):c.741+1G>T	MASP2	Single nucleotide variant (splice donor variant)	Immunodeficiency due to MASP-2 deficiency	GLikely pathogenic
Select item 1678096	NM_006610.4(MASP2):c.1126C>T (p.Arg376Ter)	MASP2 (R376*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1678023	NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs)	MASP2, TARDBP (S506fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1342490	NM_006610.4(MASP2):c.890-1G>A	MASP2	Single nucleotide variant (splice acceptor variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1032465	NM_006610.4(MASP2):c.503G>A (p.Arg168His)	MASP2 (R168H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1032464	NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr)	MASP2 (A360T)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 992550	NM_006610.4(MASP2):c.263C>T (p.Thr88Met)	MASP2 (T88M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 929342	GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1	ANGPTL7, EXOSC10 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 876831	NM_006610.4(MASP2):c.60G>A (p.Pro20=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 876830	NM_006610.4(MASP2):c.86G>A (p.Arg29His)	MASP2 (R29H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876829	NM_006610.4(MASP2):c.99C>T (p.Pro33=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GLikely benign
Select item 876782	NM_006610.4(MASP2):c.626C>T (p.Ser209Phe)	MASP2 (S209F)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876733	NM_006610.4(MASP2):c.1972A>G (p.Met658Val)	MASP2, TARDBP (M658V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876732	NM_006610.4(MASP2):c.*64C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876731	NM_006610.4(MASP2):c.*212A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875841	NM_006610.4(MASP2):c.100G>A (p.Gly34Ser)	MASP2 (G34S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875840	NM_006610.4(MASP2):c.154C>T (p.Pro52Ser)	MASP2 (P52S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875839	NM_006610.4(MASP2):c.172C>T (p.Arg58Cys)	MASP2 (R58C)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875838	NM_006610.4(MASP2):c.223G>A (p.Asp75Asn)	MASP2 (D75N)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875837	NM_006610.4(MASP2):c.229G>A (p.Val77Ile)	MASP2 (V77I)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 875741	NM_006610.4(MASP2):c.*220A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875740	NM_006610.4(MASP2):c.*282C>A	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 875739	NM_006610.4(MASP2):c.*311T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874903	NM_006610.4(MASP2):c.277G>C (p.Glu93Gln)	MASP2 (E93Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874902	NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)	MASP2 (R118C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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