ClinVar for Gene (Select 54892) - ClinVar - NCBI

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	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 3353377	NM_017760.7(NCAPG2):c.1444A>G (p.Met482Val)	NCAPG2 (M482V)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GUncertain significance
Select item 3298729	NM_017760.7(NCAPG2):c.932G>A (p.Ser311Asn)	NCAPG2 (S311N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298728	NM_017760.7(NCAPG2):c.1832T>C (p.Leu611Pro)	NCAPG2 (L611P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298727	NM_017760.7(NCAPG2):c.2567G>C (p.Ser856Thr)	NCAPG2 (S856T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298726	NM_017760.7(NCAPG2):c.3352A>G (p.Ile1118Val)	NCAPG2 (I1118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298725	NM_017760.7(NCAPG2):c.3014G>A (p.Arg1005Gln)	NCAPG2 (R1005Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298724	NM_017760.7(NCAPG2):c.1145A>G (p.Tyr382Cys)	NCAPG2 (Y382C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298723	NM_017760.7(NCAPG2):c.3235G>A (p.Val1079Met)	NCAPG2 (V1079M)	Single nucleotide variant (missense variant +1 more)	not specified	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 3250716	NM_017760.7(NCAPG2):c.606A>G (p.Glu202=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3181511	NM_017760.7(NCAPG2):c.692G>C (p.Cys231Ser)	NCAPG2 (C231S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181497	NM_017760.7(NCAPG2):c.448A>G (p.Thr150Ala)	NCAPG2 (T150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181476	NM_017760.7(NCAPG2):c.3022C>G (p.Leu1008Val)	NCAPG2 (L1008V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181474	NM_017760.7(NCAPG2):c.3016G>C (p.Gly1006Arg)	NCAPG2 (G1006R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181468	NM_017760.7(NCAPG2):c.2696A>G (p.His899Arg)	NCAPG2 (H899R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181458	NM_017760.7(NCAPG2):c.2344C>T (p.Arg782Trp)	NCAPG2 (R782W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181456	NM_017760.7(NCAPG2):c.2101G>A (p.Ala701Thr)	NCAPG2 (A701T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181451	NM_017760.7(NCAPG2):c.2014T>A (p.Phe672Ile)	NCAPG2 (F672I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181437	NM_017760.7(NCAPG2):c.1842C>A (p.Asn614Lys)	NCAPG2 (N614K)	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 3181417	NM_017760.7(NCAPG2):c.165G>T (p.Lys55Asn)	NCAPG2 (K55N)	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 3181393	NM_017760.7(NCAPG2):c.1292C>T (p.Thr431Met)	NCAPG2 (T431M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181379	NM_017760.7(NCAPG2):c.1250T>C (p.Ile417Thr)	NCAPG2 (I417T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3067229	NM_017760.7(NCAPG2):c.2989C>T (p.Arg997Trp)	NCAPG2 (R997W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 3056899	NM_017760.7(NCAPG2):c.2114G>A (p.Ser705Asn)	NCAPG2 (S705N)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GBenign
Select item 3055666	NM_017760.7(NCAPG2):c.1390C>T (p.Leu464Phe)	NCAPG2 (L464F)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GLikely benign
Select item 3053913	NM_017760.7(NCAPG2):c.307A>G (p.Ile103Val)	NCAPG2 (I103V)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GLikely benign
Select item 3052497	NM_017760.7(NCAPG2):c.1239G>A (p.Pro413=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	NCAPG2-related disorder	GLikely benign
Select item 3050032	NM_017760.7(NCAPG2):c.838-10G>A	NCAPG2	Single nucleotide variant (intron variant)	NCAPG2-related disorder	GBenign
Select item 3049792	NM_017760.7(NCAPG2):c.732C>T (p.His244=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	NCAPG2-related disorder	GLikely benign
Select item 3049288	NM_017760.7(NCAPG2):c.2389-7A>G	NCAPG2	Single nucleotide variant (intron variant)	NCAPG2-related disorder	GLikely benign
Select item 3041941	NM_017760.7(NCAPG2):c.3380+2723_3380+2729del	NCAPG2	Deletion (intron variant)	NCAPG2-related disorder	GBenign
Select item 3041456	NM_017760.7(NCAPG2):c.2257C>T (p.Arg753Cys)	NCAPG2 (R753C)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GBenign
Select item 3038135	NM_017760.7(NCAPG2):c.925-8G>T	NCAPG2	Single nucleotide variant (intron variant)	NCAPG2-related disorder	GLikely benign
Select item 3037859	NM_017760.7(NCAPG2):c.2601A>C (p.Glu867Asp)	NCAPG2 (E867D)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GBenign
Select item 3037498	NM_017760.7(NCAPG2):c.545A>G (p.Asp182Gly)	NCAPG2 (D182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3032451	NM_017760.7(NCAPG2):c.795T>G (p.Ile265Met)	NCAPG2 (I265M)	Single nucleotide variant (missense variant +1 more)	NCAPG2-related disorder	GLikely benign
Select item 3024927	NM_017760.7(NCAPG2):c.3168G>A (p.Ser1056=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684513	GRCh37/hg19 7q36.3(chr7:158416815-158727591)x3	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684512	GRCh37/hg19 7q36.3(chr7:158393514-159041880)x3	DYNC2I1, ESYT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684511	GRCh37/hg19 7q36.3(chr7:158304929-159073358)x3	DYNC2I1, ESYT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2682230	NM_017760.7(NCAPG2):c.1004T>G (p.Leu335Arg)	NCAPG2 (L335R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2682229	NM_017760.7(NCAPG2):c.2723G>A (p.Arg908Gln)	NCAPG2 (R908Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658283	NM_017760.7(NCAPG2):c.182T>C (p.Val61Ala)	NCAPG2 (V61A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658282	NM_017760.7(NCAPG2):c.3006T>G (p.Pro1002=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615519	NM_017760.7(NCAPG2):c.724A>G (p.Met242Val)	NCAPG2 (M242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612122	NM_017760.7(NCAPG2):c.3389A>G (p.Tyr1130Cys)	NCAPG2 (Y1130C)	Single nucleotide variant (missense variant +1 more)	not specified	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 2592702	NM_017760.7(NCAPG2):c.413G>A (p.Arg138Gln)	NCAPG2 (R138Q)	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 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579039	NM_017760.7(NCAPG2):c.250G>A (p.Glu84Lys)	NCAPG2 (E84K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2554681	NM_017760.7(NCAPG2):c.17C>T (p.Thr6Met)	NCAPG2 (T6M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554295	NM_017760.7(NCAPG2):c.2459G>A (p.Arg820Gln)	NCAPG2 (R820Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550496	NM_017760.7(NCAPG2):c.959G>A (p.Arg320Gln)	NCAPG2 (R320Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539755	NM_017760.7(NCAPG2):c.1982T>C (p.Val661Ala)	NCAPG2 (V661A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529392	NM_017760.7(NCAPG2):c.3172G>A (p.Val1058Met)	NCAPG2 (V1058M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511564	NM_017760.7(NCAPG2):c.1469G>A (p.Arg490Lys)	NCAPG2 (R490K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501227	NM_017760.7(NCAPG2):c.1088C>T (p.Pro363Leu)	NCAPG2 (P363L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501226	NM_017760.7(NCAPG2):c.79-4A>G	NCAPG2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2499065	NM_017760.7(NCAPG2):c.2089C>T (p.Arg697Trp)	NCAPG2 (R697W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2495257	NM_017760.7(NCAPG2):c.718A>C (p.Ile240Leu)	NCAPG2 (I240L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483455	NM_017760.7(NCAPG2):c.1262A>G (p.Lys421Arg)	NCAPG2 (K421R)	Single nucleotide variant (missense variant +1 more)	not specified	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 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
Select item 2396389	NM_017760.7(NCAPG2):c.725T>C (p.Met242Thr)	NCAPG2 (M242T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388466	NM_017760.7(NCAPG2):c.1824C>G (p.Asp608Glu)	NCAPG2 (D608E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387290	NM_017760.7(NCAPG2):c.2584A>G (p.Ile862Val)	NCAPG2 (I862V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368010	NM_017760.7(NCAPG2):c.1442A>G (p.Asp481Gly)	NCAPG2 (D481G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317012	NM_017760.7(NCAPG2):c.2360A>G (p.His787Arg)	NCAPG2 (H787R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309609	NM_017760.7(NCAPG2):c.2248C>T (p.His750Tyr)	NCAPG2 (H750Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306916	NM_017760.7(NCAPG2):c.1309C>T (p.Arg437Cys)	NCAPG2 (R437C)	Single nucleotide variant (missense variant +1 more)	not specified	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 2300832	NM_017760.7(NCAPG2):c.1265A>G (p.Lys422Arg)	NCAPG2 (K422R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262683	NM_017760.7(NCAPG2):c.1162C>T (p.Pro388Ser)	NCAPG2 (P388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261447	NM_017760.7(NCAPG2):c.2479C>T (p.Arg827Cys)	NCAPG2 (R827C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256714	NM_017760.7(NCAPG2):c.71A>G (p.Gln24Arg)	NCAPG2 (Q24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250466	NM_017760.7(NCAPG2):c.1948A>C (p.Lys650Gln)	NCAPG2 (K650Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247700	NM_017760.7(NCAPG2):c.372T>G (p.Ile124Met)	NCAPG2 (I124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245026	NM_017760.7(NCAPG2):c.627G>A (p.Met209Ile)	NCAPG2 (M209I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237424	NM_017760.7(NCAPG2):c.181G>A (p.Val61Met)	NCAPG2 (V61M)	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 2215572	NM_017760.7(NCAPG2):c.2900G>A (p.Arg967Gln)	NCAPG2 (R967Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206978	NM_017760.7(NCAPG2):c.334G>A (p.Glu112Lys)	NCAPG2 (E112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809157	GRCh37/hg19 7q36.3(chr7:158311347-158531086)x3	ESYT2, NCAPG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808858	GRCh37/hg19 7q36.3(chr7:158385219-158727591)x3	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance

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