"Baylor Genetics"[submitter] AND "NCAPG2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442226	NM_017760.7(NCAPG2):c.2815C>G (p.Gln939Glu)	NCAPG2 (Q939E)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1030593	NM_017760.7(NCAPG2):c.1507A>G (p.Ile503Val)	NCAPG2, LOC126860260 (I503V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic

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ClinVar