21904[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
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 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146785	GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1	LINC01022, DNAJB6 +79 more	Copy number loss	See cases	GPathogenic
Select item 149686	GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1	DNAJB6, DYNC2I1 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58373	GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3	DNAJB6, DYNC2I1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 149053	GRCh38/hg38 7q36.3(chr7:157879987-158752871)x3	ESYT2, LINC01022 +23 more	Copy number gain	See cases	GLikely benign
Select item 147687	GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3	DYNC2I1, ESYT2 +46 more	Copy number gain	See cases	GPathogenic
Select item 57308	GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1	LOC129999754, LOC129999755 +35 more	Copy number loss	See cases	GPathogenic
Select item 58375	GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3	DYNC2I1, ESYT2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60327	GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1	DYNC2I1, ESYT2 +32 more	Copy number loss	See cases	GPathogenic
Select item 545345	Single allele	DYNC2I1, ESYT2 +24 more	Duplication	Autism	GLikely pathogenic
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 3041941	NM_017760.7(NCAPG2):c.3380+2723_3380+2729del	NCAPG2	Deletion (intron variant)	NCAPG2-related disorder	GBenign
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 1050712	NM_017760.7(NCAPG2):c.3300del (p.Lys1100_Val1101insTer)	NCAPG2	Deletion (frameshift variant +1 more)	not provided	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 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 3024927	NM_017760.7(NCAPG2):c.3168G>A (p.Ser1056=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 218742	NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile)	NCAPG2 (V1029I)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
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 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 2658282	NM_017760.7(NCAPG2):c.3006T>G (p.Pro1002=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1321855	NM_017760.7(NCAPG2):c.2934+10A>C	NCAPG2	Single nucleotide variant (intron variant)	Khan-Khan-Katsanis syndrome +1 more	GBenign
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 730051	NM_017760.7(NCAPG2):c.2898A>C (p.Ala966=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713227	NM_017760.7(NCAPG2):c.2856C>G (p.Asp952Glu)	NCAPG2 (D952E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 3049288	NM_017760.7(NCAPG2):c.2389-7A>G	NCAPG2	Single nucleotide variant (intron variant)	NCAPG2-related disorder	GLikely benign
Select item 719441	NM_017760.7(NCAPG2):c.2381C>T (p.Thr794Met)	NCAPG2 (T794M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 218741	NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg)	NCAPG2 (H750R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 3363196	NM_017760.7(NCAPG2):c.2232del (p.Gly745fs)	NCAPG2 (G745fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 778369	NM_017760.7(NCAPG2):c.2154G>A (p.Gln718=)	NCAPG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 782502	NM_017760.7(NCAPG2):c.1840A>G (p.Asn614Asp)	NCAPG2 (N614D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 633698	NM_017760.7(NCAPG2):c.1825A>G (p.Lys609Glu)	NCAPG2 (K609E)	Single nucleotide variant (missense variant +1 more)	Khan-Khan-Katsanis syndrome	GPathogenic
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

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