ClinVar for MedGen (Select 1682553) - ClinVar - NCBI

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

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689541	NM_017760.7(NCAPG2):c.2621G>C (p.Arg874Thr)	NCAPG2 (R874T)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
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 2434071	NM_017760.7(NCAPG2):c.2480G>A (p.Arg827His)	NCAPG2 (R827H)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 2434070	NM_017760.7(NCAPG2):c.733G>A (p.Gly245Arg)	NCAPG2 (G245R)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1806300	NM_017760.7(NCAPG2):c.125T>A (p.Leu42Ter)	NCAPG2 (L42*)	Single nucleotide variant (nonsense +1 more)	Khan-Khan-Katsanis syndrome	GLikely pathogenic
Select item 1706449	NM_017760.7(NCAPG2):c.2158G>A (p.Gly720Arg)	NCAPG2 (G720R)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1704310	NM_017760.7(NCAPG2):c.1021-2A>G	NCAPG2	Single nucleotide variant (splice acceptor variant)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1679758	NM_017760.7(NCAPG2):c.1008del (p.Leu335_Trp336insTer)	NCAPG2	Deletion (nonsense +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1679757	NM_017760.7(NCAPG2):c.1699A>G (p.Ile567Val)	LOC126860260, NCAPG2 (I567V)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 1321856	NM_017760.7(NCAPG2):c.1480-16T>C	LOC126860260, NCAPG2	Single nucleotide variant (intron variant)	Khan-Khan-Katsanis syndrome	GBenign
Select item 1321855	NM_017760.7(NCAPG2):c.2934+10A>C	NCAPG2	Single nucleotide variant (intron variant)	Khan-Khan-Katsanis syndrome	GBenign
Select item 1030593	NM_017760.7(NCAPG2):c.1507A>G (p.Ile503Val)	LOC126860260, NCAPG2 (I503V)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GUncertain significance
Select item 721491	NM_017760.7(NCAPG2):c.975G>A (p.Glu325=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	Khan-Khan-Katsanis syndrome +1 more	GBenign/Likely benign
Select item 633700	NM_017760.7(NCAPG2):c.2548A>C (p.Thr850Pro)	NCAPG2 (T850P)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GPathogenic
Select item 633699	NM_017760.7(NCAPG2):c.2078C>T (p.Thr693Met)	NCAPG2 (T693M)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GPathogenic
Select item 633698	NM_017760.7(NCAPG2):c.1825A>G (p.Lys609Glu)	NCAPG2 (K609E)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GPathogenic