"Invitae"[submitter] AND "MASP2"[gene] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 708053	NM_006610.4(MASP2):c.370G>A (p.Glu124Lys)	MASP2 (E124K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 716795	NM_006610.4(MASP2):c.38C>T (p.Ser13Leu)	MASP2 (S13L)	Single nucleotide variant (missense variant)	MASP2-related condition +1 more	GBenign/Likely benign
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
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	VPS13D, AGTRAP +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 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	DISP3, AGTRAP +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20