C4551568[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878525	NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)	INPP5E (D469N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 2627486	NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)	INPP5E (G286R)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 281411	NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	CEP290 (R908*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +10 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination

ClinVar