C1956125[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412805	NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs)	JAG1 (I1000fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 987517	NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys)	JAG1 (N507K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance