"Ambry Genetics"[submitter] AND "JAGN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475247	NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)	JAGN1 (T12I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 966622	NM_032492.4(JAGN1):c.90T>C (p.Ser30=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1020952	NM_032492.4(JAGN1):c.127G>A (p.Val43Ile)	JAGN1 (V43I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230899	NM_032492.4(JAGN1):c.250C>G (p.Pro84Ala)	JAGN1 (P30A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508629	NM_032492.4(JAGN1):c.499A>G (p.Lys167Glu)	JAGN1 (K113E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1400765	NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu)	JAGN1 (F120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar