"GeneDx"[submitter] AND "JAG2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 1301293	NM_002226.5(JAG2):c.3414T>C (p.Ile1138=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2632118	NM_002226.5(JAG2):c.2935C>T (p.Arg979Cys)	JAG2 (R941C +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder +2 more	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	GLikely pathogenic
Select item 1308577	NM_002226.5(JAG2):c.2093G>C (p.Cys698Ser)	JAG2 (C660S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302207	NM_002226.5(JAG2):c.1975C>T (p.Arg659Cys)	JAG2 (R621C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253177	NM_002226.5(JAG2):c.463dup (p.Thr155fs)	JAG2 (T155fs)	Duplication (frameshift variant)	not provided	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 +1 more	GConflicting classifications of pathogenicity
Select item 254021	GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	TEDC1, CDCA4 +14 more	Copy number loss	See cases	GUncertain significance