Related gene-specific medical variations for Gene (Select 23435) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3064961	NM_007375.4(TARDBP):c.67G>A (p.Asp23Asn)	TARDBP (D23N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	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 +1 more	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 1806945	NM_007375.4(TARDBP):c.1173delinsCAATGCG (p.Ala391_Gly392insAsnAla)	TARDBP	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1678023	NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs)	MASP2, TARDBP (S506fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 995034	NM_007375.4(TARDBP):c.894T>C (p.Gly298=)	TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not provided +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 specified +3 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)	not provided +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)	not provided +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 +2 more	GBenign
Select item 21465	NM_007375.4(TARDBP):c.*83T>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59