ClinVar for PubMed (Select 25125236) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 2995674	NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs)	ANKRD11 (D549fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2856933	NM_013275.6(ANKRD11):c.4148_4151del (p.Gly1383fs)	ANKRD11 (G1383fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2854802	NM_013275.6(ANKRD11):c.2184del (p.Ser729fs)	ANKRD11 (S729fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2847140	NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs)	ANKRD11 (C1339fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2832575	NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)	ANKRD11 (K1842*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2761432	NM_013275.6(ANKRD11):c.6298_6299dup (p.Asn2100fs)	ANKRD11 (N2100fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2759979	NM_013275.6(ANKRD11):c.3586_3587del (p.Asp1196fs)	ANKRD11 (D1196fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2757872	NM_013275.6(ANKRD11):c.323del (p.Gly108fs)	ANKRD11 (G108fs)	Deletion (frameshift variant +1 more)	KBG syndrome	GPathogenic
Select item 2744129	NM_013275.6(ANKRD11):c.2803dup (p.Ser935fs)	ANKRD11 (S935fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2736383	NM_013275.6(ANKRD11):c.3123_3126del (p.Ile1042fs)	ANKRD11 (I1042fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2704328	NM_013275.6(ANKRD11):c.6177del (p.Ser2060fs)	ANKRD11 (S2060fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2636561	NM_013275.6(ANKRD11):c.2828_2829del (p.Glu943fs)	ANKRD11 (E943fs)	Microsatellite (frameshift variant)	ANKRD11-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2503459	NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)	ANKRD11 (R2328*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic/Likely pathogenic
Select item 2430112	NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)	ANKRD11 (E675fs)	Duplication (frameshift variant)	Developmental disorder +1 more	GPathogenic
Select item 2122855	NM_013275.6(ANKRD11):c.3240del (p.Asp1081fs)	ANKRD11 (D1081fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2115686	NM_013275.6(ANKRD11):c.276_292del (p.Lys93fs)	ANKRD11 (K93fs)	Deletion (frameshift variant +1 more)	KBG syndrome	GPathogenic
Select item 2114579	NM_013275.6(ANKRD11):c.2088dup (p.Glu697fs)	ANKRD11 (E697fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2111588	NM_013275.6(ANKRD11):c.4370_4373del (p.Lys1457fs)	ANKRD11 (K1457fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2043709	NM_013275.6(ANKRD11):c.3239_3240del (p.Leu1080fs)	ANKRD11 (L1080fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2038482	NM_013275.6(ANKRD11):c.1731dup (p.Asp578Ter)	ANKRD11 (D578*)	Duplication (nonsense)	KBG syndrome	GPathogenic
Select item 2035562	NM_013275.6(ANKRD11):c.4334dup (p.Pro1447fs)	ANKRD11 (P1447fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2024785	NM_013275.6(ANKRD11):c.3603_3604del (p.Val1201_Phe1202insTer)	ANKRD11	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2021942	NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)	ANKRD11 (Y2015*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2018141	NM_013275.6(ANKRD11):c.2607dup (p.Ser870fs)	ANKRD11 (S870fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1993616	NM_013275.6(ANKRD11):c.3936dup (p.Gln1313fs)	ANKRD11 (Q1313fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1918124	NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)	ANKRD11 (Q1812*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1752815	NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)	NIPBL (V2106L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1526114	NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp)	SMC1A (R564W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 1482344	NM_013275.6(ANKRD11):c.7714-1G>C	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GLikely pathogenic
Select item 1453315	NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter)	ANKRD11 (E190*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome	GPathogenic
Select item 1451455	NM_013275.6(ANKRD11):c.7617_7629del (p.His2538_Cys2539insTer)	ANKRD11	Deletion (nonsense)	KBG syndrome	GPathogenic
Select item 1451129	NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter)	ANKRD11 (S2208*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1445240	NM_013275.6(ANKRD11):c.6320dup (p.Gly2108fs)	ANKRD11 (G2108fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1427470	NM_013275.6(ANKRD11):c.2166dup (p.Asp723fs)	ANKRD11 (D723fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1375357	NM_013275.6(ANKRD11):c.6569_6609dup (p.Glu2204fs)	ANKRD11 (E2204fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1373984	NM_013275.6(ANKRD11):c.6772dup (p.Ala2258fs)	ANKRD11 (A2258fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1347540	NM_013275.6(ANKRD11):c.893-2A>G	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GLikely pathogenic
Select item 1341539	NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs)	ANKRD11 (K1107fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1215859	NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter)	ANKRD11 (Q2398*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic
Select item 1073378	NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)	ANKRD11 (S2355fs)	Duplication (frameshift variant)	ANKRD11-related disorder +1 more	GPathogenic
Select item 1068793	NM_013275.6(ANKRD11):c.5117dup (p.Thr1707fs)	ANKRD11 (T1707fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1023875	NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val)	NIPBL (G1861V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 987277	NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)	ANKRD11 (R440*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic
Select item 985588	NM_006265.3(RAD21):c.1222G>T (p.Gly408Ter)	RAD21 (G408*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 985132	NM_005445.4(SMC3):c.3439C>G (p.Gln1147Glu)	SMC3 (Q1147E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 959781	NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter)	ANKRD11 (E1945*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 959511	NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs)	ANKRD11 (S1745fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 870867	NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter)	ANKRD11 (Y659*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 870866	NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)	ANKRD11 (R838*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 838272	NM_013275.6(ANKRD11):c.3219_3220del (p.Asp1073fs)	ANKRD11 (D1073fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 817986	NM_013275.6(ANKRD11):c.6031_6041del (p.Ser2011fs)	ANKRD11 (S2011fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 817713	NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs)	ANKRD11 (E1927fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 817640	NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs)	ANKRD11 (K1464fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 807371	NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)	ANKRD11 (R906*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 694682	NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)	ANKRD11 (R458*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic
Select item 658274	NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)	ANKRD11 (R1895fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 650001	NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)	ANKRD11 (L758fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 645982	NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)	ANKRD11 (N819*)	Duplication (nonsense)	KBG syndrome	GPathogenic
Select item 633578	NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)	ANKRD11 (E461fs)	Microsatellite (frameshift variant)	KBG syndrome +3 more	GPathogenic/Likely pathogenic
Select item 620276	NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter)	ANKRD11 (R898*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 583986	NC_000016.10:g.(?_89268458)_(89317039_?)del	LOC105371414, ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 565310	NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)	ANKRD11 (K1237fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 546454	NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs)	ANKRD11 (A2323fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 546032	NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)	ANKRD11 (R54*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome +1 more	GPathogenic
Select item 523956	NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)	ANKRD11 (K1235fs)	Deletion (frameshift variant)	ANKRD11-related disorder +2 more	GPathogenic
Select item 521294	NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)	ANKRD11 (A2265fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 503853	NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	ANKRD11 (V2279fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 458786	NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter)	ANKRD11 (F2066*)	Indel (nonsense)	KBG syndrome	GPathogenic
Select item 450818	NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	ANKRD11 (R2328fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 434197	NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)	ANKRD11 (E2224*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 420179	NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	ANKRD11 (E1075fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 374225	NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs)	ANKRD11 (P2073fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 280288	NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)	ANKRD11 (R1462fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 280209	NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)	ANKRD11 (R601*)	Single nucleotide variant (nonsense)	KBG syndrome +2 more	GPathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 266033	NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	ANKRD11 (K803fs)	Deletion (frameshift variant)	KBG syndrome +3 more	GPathogenic
Select item 242976	NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)	ANKRD11 (G2006fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 217800	NM_005445.4(SMC3):c.703_705del (p.Thr235del)	SMC3 (T235del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 3	GPathogenic
Select item 217799	NM_005445.4(SMC3):c.139T>C (p.Phe47Leu)	SMC3 (F47L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GPathogenic
Select item 217797	NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs)	ANKRD11 (K2070fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 209131	NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)	ANKRD11 (E800fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 159950	NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)	SMC1A (R790W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 96344	NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)	NIPBL (R1814*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1 +2 more	GPathogenic

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Items: 84