C5561973[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169867	NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)	KIDINS220 (Q1509H +6 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +2 more	GBenign
Select item 1168944	NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1261683	NM_020738.4(KIDINS220):c.2849-25T>A	KIDINS220	Single nucleotide variant (intron variant)	Ventriculomegaly and arthrogryposis +2 more	GBenign

Format

Sort by

Choose Destination

ClinVar