"PreventionGenetics, part of Exact Sciences"[submitter] AND "MASP2"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3058189	NM_006610.4(MASP2):c.1827G>A (p.Arg609=)	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 3033229	NM_006610.4(MASP2):c.1689G>A (p.Arg563=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
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 3050821	NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala)	MASP2, TARDBP (G464A)	Single nucleotide variant (missense variant)	MASP2-related disorder	GBenign
Select item 2632022	NM_006610.4(MASP2):c.1087+8_1087+10del	MASP2	Deletion (intron variant)	MASP2-related disorder	GUncertain significance
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 729733	NM_006610.4(MASP2):c.881C>T (p.Thr294Met)	MASP2 (T294M)	Single nucleotide variant (missense variant)	MASP2-related disorder +2 more	GBenign
Select item 873963	NM_006610.4(MASP2):c.464A>G (p.His155Arg)	MASP2 (H155R)	Single nucleotide variant (missense variant)	MASP2-related disorder +1 more	GBenign
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	MASP2-related disorder +3 more	GConflicting classifications of pathogenicity
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 291808	NM_006610.4(MASP2):c.296G>A (p.Arg99Gln)	MASP2 (R99Q)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency +2 more	GBenign
Select item 716795	NM_006610.4(MASP2):c.38C>T (p.Ser13Leu)	MASP2 (S13L)	Single nucleotide variant (missense variant)	MASP2-related disorder +1 more	GBenign/Likely benign