ClinVar for MedGen (Select 1794212) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068242	NM_002226.5(JAG2):c.2434C>T (p.Arg812Cys)	JAG2 (R774C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3064851	NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter)	JAG2 (Y104*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GLikely pathogenic
Select item 1803192	NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)	JAG2 (G732R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1677289	NM_002226.5(JAG2):c.2134C>T (p.Arg712Cys)	JAG2 (R674C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1677288	NM_002226.5(JAG2):c.1073A>T (p.Asn358Ile)	JAG2 (N358I)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1677287	NM_002226.5(JAG2):c.493C>T (p.Arg165Ter)	JAG2 (R165*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GLikely pathogenic
Select item 1677286	NM_002226.5(JAG2):c.283A>G (p.Thr95Ala)	JAG2 (T95A)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1677285	NM_002226.5(JAG2):c.2930T>C (p.Phe977Ser)	JAG2 (F939S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1677284	NM_002226.5(JAG2):c.2473C>T (p.Arg825Cys)	JAG2 (R787C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1527879	NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)	JAG2 (G281C)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GLikely pathogenic
Select item 1527878	NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)	JAG2 (F407fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GPathogenic
Select item 1300194	NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)	JAG2 (P682S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1300193	NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)	JAG2 (C74S)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1300192	NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)	JAG2 (G839R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300191	NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)	JAG2 (E164K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 1300190	NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)	JAG2 (A243D)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance