Related gene-specific medical variations for Gene (Select 54892) - ClinVar - NCBI

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

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363196	NM_017760.7(NCAPG2):c.2232del (p.Gly745fs)	NCAPG2 (G745fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3298722	NM_017760.7(NCAPG2):c.1642C>T (p.His548Tyr)	LOC126860260, NCAPG2 (H548Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181423	NM_017760.7(NCAPG2):c.1687G>A (p.Ala563Thr)	LOC126860260, NCAPG2 (A563T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181413	NM_017760.7(NCAPG2):c.1658G>C (p.Arg553Thr)	LOC126860260, NCAPG2 (R553T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181408	NM_017760.7(NCAPG2):c.1547G>A (p.Arg516Gln)	LOC126860260, NCAPG2 (R516Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2598810	NM_017760.7(NCAPG2):c.1808A>G (p.Asn603Ser)	LOC126860260, NCAPG2 (N603S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583056	NM_017760.7(NCAPG2):c.1686C>T (p.Thr562=)	LOC126860260, NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2303120	NM_017760.7(NCAPG2):c.1612G>A (p.Glu538Lys)	LOC126860260, NCAPG2 (E538K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222638	NM_017760.7(NCAPG2):c.1802A>G (p.Lys601Arg)	LOC126860260, NCAPG2 (K601R)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not provided +1 more	GBenign
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 768221	NM_017760.7(NCAPG2):c.1572T>C (p.Asn524=)	LOC126860260, NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716146	NM_017760.7(NCAPG2):c.1798G>C (p.Glu600Gln)	LOC126860260, NCAPG2 (E600Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign