Related gene-specific medical variations for Gene (Select 10747) - ClinVar

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Items: 60

	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 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 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 3058189	NM_006610.4(MASP2):c.1827G>A (p.Arg609=)	MASP2, TARDBP	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 2638215	NM_006610.4(MASP2):c.1947G>T (p.Val649=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2556816	NM_006610.4(MASP2):c.1514T>C (p.Leu505Pro)	MASP2, TARDBP (L505P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2408091	NM_006610.4(MASP2):c.1453G>A (p.Val485Ile)	MASP2, TARDBP (V485I)	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 2304116	NM_006610.4(MASP2):c.1798G>A (p.Ala600Thr)	MASP2, TARDBP (A600T)	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 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 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 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 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 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 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 874849	NM_006610.4(MASP2):c.1231G>A (p.Val411Met)	MASP2, TARDBP (V411M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874848	NM_006610.4(MASP2):c.1314C>T (p.Ala438=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 873904	NM_006610.4(MASP2):c.1468C>T (p.His490Tyr)	MASP2, TARDBP (H490Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 873903	NM_006610.4(MASP2):c.1470T>G (p.His490Gln)	MASP2, TARDBP (H490Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 873902	NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser)	MASP2, TARDBP (C629S)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 626137	NM_006610.4(MASP2):c.1574A>G (p.His525Arg)	MASP2, TARDBP (H525R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 368798	NM_006610.4(MASP2):c.*184C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +2 more	GLikely benign
Select item 291783	NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn)	MASP2, TARDBP (D415N)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 291782	NM_006610.4(MASP2):c.1316G>A (p.Arg439His)	MASP2, TARDBP (R439H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign/Likely benign
Select item 291781	NM_006610.4(MASP2):c.1479C>T (p.Ser493=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 291780	NM_006610.4(MASP2):c.1590C>T (p.Asp530=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291779	NM_006610.4(MASP2):c.1617T>C (p.Asn539=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +3 more	GBenign/Likely benign
Select item 291778	NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile)	MASP2, TARDBP (T576I)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291777	NM_006610.4(MASP2):c.1731A>C (p.Gln577His)	MASP2, TARDBP (Q577H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign/Likely benign
Select item 291776	NM_006610.4(MASP2):c.*111C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291775	NM_006610.4(MASP2):c.*171A>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291774	NM_006610.4(MASP2):c.*189G>A	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291773	NM_006610.4(MASP2):c.*219C>T	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291772	NM_006610.4(MASP2):c.*225T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency +3 more	GBenign

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Links from Gene

Items: 60