C3151085[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873851	NM_007375.4(TARDBP):c.*2123T>C	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 291763	NM_007375.4(TARDBP):c.2294_2295insGTTTT	MASP2, TARDBP	Insertion (3 prime UTR variant)	Immunodeficiency due to MASP-2 deficiency +2 more	GBenign
Select item 291764	NM_007375.4(TARDBP):c.*2331A>G	MASP2, TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10 +3 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 291781	NM_006610.4(MASP2):c.1479C>T (p.Ser493=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 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 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 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 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 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 874850	NM_006610.4(MASP2):c.1213G>A (p.Val405Met)	MASP2 (V405M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874851	NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp)	MASP2 (E397D)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874852	NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr)	MASP2 (C396Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291784	NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)	MASP2 (T381I)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291785	NM_006610.4(MASP2):c.1130T>C (p.Val377Ala)	MASP2 (V377A)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 291786	NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr)	MASP2 (D371Y)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +2 more	GBenign
Select item 291787	NM_006610.4(MASP2):c.1080G>A (p.Ala360=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291788	NM_006610.4(MASP2):c.1064A>T (p.Asp355Val)	MASP2 (D355V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 291789	NM_006610.4(MASP2):c.967A>C (p.Ser323Arg)	MASP2 (S323R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291790	NM_006610.4(MASP2):c.891G>A (p.Ala297=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 291791	NM_006610.4(MASP2):c.882G>A (p.Thr294=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 729733	NM_006610.4(MASP2):c.881C>T (p.Thr294Met)	MASP2 (T294M)	Single nucleotide variant (missense variant)	MASP2-related condition +2 more	GBenign
Select item 291792	NM_006610.4(MASP2):c.828C>G (p.Ile276Met)	MASP2 (I276M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291793	NM_006610.4(MASP2):c.808A>C (p.Lys270Gln)	MASP2 (K270Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291794	NM_006610.4(MASP2):c.742-12C>T	MASP2	Single nucleotide variant (intron variant)	Immunodeficiency due to MASP-2 deficiency	GLikely benign
Select item 291795	NM_006610.4(MASP2):c.729C>T (p.Tyr243=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 291796	NM_006610.4(MASP2):c.661T>C (p.Phe221Leu)	MASP2 (F221L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
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 291798	NM_006610.4(MASP2):c.612G>A (p.Pro204=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 291797	NM_006610.4(MASP2):c.612G>T (p.Pro204=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291799	NM_006610.4(MASP2):c.555C>T (p.Ser185=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 291800	NM_006610.4(MASP2):c.507A>G (p.Ala169=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291801	NM_006610.4(MASP2):c.470A>G (p.His157Arg)	MASP2 (H157R)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign
Select item 291802	NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)	MASP2 (C156Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 873963	NM_006610.4(MASP2):c.464A>G (p.His155Arg)	MASP2 (H155R)	Single nucleotide variant (missense variant)	MASP2-related condition +1 more	GBenign
Select item 873964	NM_006610.4(MASP2):c.446C>T (p.Ala149Val)	MASP2 (A149V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 873965	NM_006610.4(MASP2):c.437C>T (p.Pro146Leu)	MASP2 (P146L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291803	NM_006610.4(MASP2):c.420C>T (p.Asp140=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 632078	NM_006610.4(MASP2):c.412+1G>A	MASP2	Single nucleotide variant (splice donor variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 874901	NM_006610.4(MASP2):c.408C>T (p.Ala136=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 291804	NM_006610.4(MASP2):c.395C>T (p.Ala132Val)	MASP2 (A132V)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291805	NM_006610.4(MASP2):c.384G>A (p.Thr128=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291806	NM_006610.4(MASP2):c.383C>T (p.Thr128Met)	MASP2 (T128M)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291807	NM_006610.4(MASP2):c.377C>T (p.Pro126Leu)	MASP2 (P126L)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	MASP2-related condition +3 more	GConflicting classifications of pathogenicity
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
Select item 291808	NM_006610.4(MASP2):c.296G>A (p.Arg99Gln)	MASP2 (R99Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 631561	NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)	MASP2 (S81*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 291809	NM_006610.4(MASP2):c.234+13C>T	MASP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 291810	NM_006610.4(MASP2):c.234+6G>A	MASP2	Single nucleotide variant (intron variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 291811	NM_006610.4(MASP2):c.231C>T (p.Val77=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 291812	NM_006610.4(MASP2):c.159C>T (p.Pro53=)	MASP2	Single nucleotide variant (synonymous 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 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 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 291813	NM_006610.4(MASP2):c.93A>T (p.Ala31=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
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 291814	NM_006610.4(MASP2):c.81C>T (p.Phe27=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 876831	NM_006610.4(MASP2):c.60G>A (p.Pro20=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency	GBenign
Select item 786449	NM_006610.4(MASP2):c.33T>C (p.Cys11=)	MASP2	Single nucleotide variant (synonymous variant)	Immunodeficiency due to MASP-2 deficiency +1 more	GBenign

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Items: 81