Related gene-specific medical variations for Gene (Select 3714) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359218	NM_002226.5(JAG2):c.860G>A (p.Cys287Tyr)	JAG2 (C287Y)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3359217	NM_002226.5(JAG2):c.2561_2569del (p.Pro854_Gly856del)	JAG2	Deletion (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
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 3047208	NM_002226.5(JAG2):c.1429-7C>T	JAG2, MIR6765	Single nucleotide variant (non-coding transcript variant +1 more)	JAG2-related disorder	GLikely benign
Select item 3044151	NM_002226.5(JAG2):c.1429-6G>A	JAG2, MIR6765	Single nucleotide variant (non-coding transcript variant +1 more)	JAG2-related disorder	GLikely benign
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