ClinVar for MedGen (Select 66317) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380898	NM_013275.6(ANKRD11):c.3672del (p.Ser1225fs)	ANKRD11 (S1225fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3377251	NM_013275.6(ANKRD11):c.7660G>A (p.Ala2554Thr)	ANKRD11 (A2554T)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely pathogenic
Select item 3376437	NM_013275.6(ANKRD11):c.5254C>G (p.Pro1752Ala)	ANKRD11 (P1752A)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3366888	NM_013275.6(ANKRD11):c.4061C>G (p.Ser1354Ter)	ANKRD11 (S1354*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3362783	NM_013275.6(ANKRD11):c.6075C>G (p.Tyr2025Ter)	ANKRD11 (Y2025*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3362508	NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)	ANKRD11 (E2099*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3362507	NM_013275.6(ANKRD11):c.3382_3383del (p.Asp1128fs)	ANKRD11 (D1128fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3256751	NM_013275.6(ANKRD11):c.1763C>A (p.Ser588Ter)	ANKRD11 (S588*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3256548	NM_013275.6(ANKRD11):c.6600_6601del (p.Ala2201fs)	ANKRD11 (A2201fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3256546	NM_013275.6(ANKRD11):c.7234del (p.Gln2412fs)	ANKRD11 (Q2412fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3255228	NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)	ANKRD11 (Y2441*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3254695	NM_013275.6(ANKRD11):c.371C>T (p.Thr124Met)	ANKRD11 (T124M)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GUncertain significance
Select item 3250482	NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)	ANKRD11 (K995*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3243331	NC_000016.9:g.(?_89346276)_(89348939_?)del	ANKRD11	Deletion	KBG syndrome	GLikely pathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3243327	NC_000016.9:g.(?_89334886)_(89341619_?)del	ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 3243326	NC_000016.9:g.(?_89556653)_(89577020_?)del	ANKRD11, SPG7	Deletion	KBG syndrome	GUncertain significance
Select item 3237188	NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)	ANKRD11 (S983fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 3237170	NM_013275.6(ANKRD11):c.2863del (p.Leu955fs)	ANKRD11 (L955fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3237169	NM_013275.6(ANKRD11):c.6168C>G (p.Tyr2056Ter)	ANKRD11 (Y2056*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3237152	NM_013275.6(ANKRD11):c.2650del (p.Asp884fs)	ANKRD11 (D884fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3235721	NM_013275.6(ANKRD11):c.5686_5697delinsACCAGCA (p.Ala1896fs)	ANKRD11 (A1896fs)	Indel (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3235085	NM_013275.6(ANKRD11):c.4997dup (p.Asn1666fs)	ANKRD11 (N1666fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3234018	NM_013275.6(ANKRD11):c.6983del (p.Arg2328fs)	ANKRD11 (R2328fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3075709	NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)	ANKRD11 (C2530*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3069076	NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)	ANKRD11 (R2512P)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely pathogenic
Select item 3068621	NM_013275.6(ANKRD11):c.1400T>A (p.Val467Asp)	ANKRD11 (V467D)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3068387	NM_013275.6(ANKRD11):c.3045dup (p.Asp1016fs)	ANKRD11 (D1016fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 3066200	NM_013275.6(ANKRD11):c.6253_6254insACAC (p.Cys2085fs)	ANKRD11 (C2085fs)	Insertion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3065107	NM_013275.6(ANKRD11):c.2721G>C (p.Lys907Asn)	ANKRD11 (K907N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3062321	NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)	ANKRD11 (I721fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062276	NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)	ANKRD11 (K2423*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3062243	NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)	ANKRD11 (S834fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062058	NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)	ANKRD11 (D1854fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3026674	NM_013275.6(ANKRD11):c.5606C>G (p.Pro1869Arg)	ANKRD11 (P1869R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024327	NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)	ANKRD11 (L507fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3024307	NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)	ANKRD11 (E2229*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3024296	NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)	ANKRD11 (Y213fs)	Deletion (frameshift variant +1 more)	KBG syndrome	GLikely pathogenic
Select item 3024283	NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)	ANKRD11 (E166*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome	GLikely pathogenic
Select item 3024235	NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)	ANKRD11 (P2250fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3022112	NM_013275.6(ANKRD11):c.245G>A (p.Arg82Gln)	ANKRD11 (R82Q)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GBenign
Select item 3022042	NM_013275.6(ANKRD11):c.3165T>G (p.Cys1055Trp)	ANKRD11 (C1055W)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3019934	NM_013275.6(ANKRD11):c.2466G>C (p.Gln822His)	ANKRD11 (Q822H)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3019542	NM_013275.6(ANKRD11):c.5028C>G (p.Ser1676=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 3018720	NM_013275.6(ANKRD11):c.1701C>T (p.Asp567=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 3017720	NM_013275.6(ANKRD11):c.5335C>G (p.Pro1779Ala)	ANKRD11 (P1779A)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3017574	NM_013275.6(ANKRD11):c.6198C>T (p.Phe2066=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 3015140	NM_013275.6(ANKRD11):c.2020T>G (p.Leu674Val)	ANKRD11 (L674V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3014313	NM_013275.6(ANKRD11):c.-34C>T	ANKRD11, LOC128462377 (A11V +1 more)	Single nucleotide variant (missense variant +2 more)	KBG syndrome	GUncertain significance
Select item 3014296	NM_013275.6(ANKRD11):c.1450G>A (p.Glu484Lys)	ANKRD11 (E484K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3011665	NM_013275.6(ANKRD11):c.4494C>G (p.Asp1498Glu)	ANKRD11 (D1498E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3011413	NM_013275.6(ANKRD11):c.920C>T (p.Ser307Phe)	ANKRD11 (S307F)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3011381	NM_013275.6(ANKRD11):c.7372A>G (p.Ile2458Val)	ANKRD11 (I2458V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3010607	NM_013275.6(ANKRD11):c.7212G>A (p.Thr2404=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 3010352	NM_013275.6(ANKRD11):c.46C>T (p.Pro16Ser)	ANKRD11 (P16S)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GUncertain significance
Select item 3010154	NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)	ANKRD11 (P1970T)	Single nucleotide variant (missense variant)	KBG syndrome	GBenign
Select item 3008859	NM_013275.6(ANKRD11):c.6737C>G (p.Pro2246Arg)	ANKRD11 (P2246R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3008644	NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)	ANKRD11 (A217T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3006942	NM_013275.6(ANKRD11):c.7709G>A (p.Ser2570Asn)	ANKRD11 (S2570N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3006305	NM_013275.6(ANKRD11):c.5554_5556del (p.Ser1852del)	ANKRD11 (S1852del)	Deletion (inframe_deletion)	KBG syndrome	GUncertain significance
Select item 3005175	NM_013275.6(ANKRD11):c.602-17T>C	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 3005160	NM_013275.6(ANKRD11):c.5555C>A (p.Ser1852Tyr)	ANKRD11 (S1852Y)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3005100	NM_013275.6(ANKRD11):c.6818G>C (p.Gly2273Ala)	ANKRD11 (G2273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3004568	NM_013275.6(ANKRD11):c.88-8T>G	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 3002519	NM_013275.6(ANKRD11):c.2725G>A (p.Asp909Asn)	ANKRD11 (D909N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3001133	NM_013275.6(ANKRD11):c.1217T>C (p.Ile406Thr)	ANKRD11 (I406T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2999816	NM_013275.6(ANKRD11):c.6001C>T (p.His2001Tyr)	ANKRD11 (H2001Y)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2999691	NM_013275.6(ANKRD11):c.6850G>T (p.Ala2284Ser)	ANKRD11 (A2284S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2998431	NM_013275.6(ANKRD11):c.2717G>T (p.Arg906Leu)	ANKRD11 (R906L)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2998014	NM_013275.6(ANKRD11):c.5335C>T (p.Pro1779Ser)	ANKRD11 (P1779S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2996395	NM_013275.6(ANKRD11):c.6224C>T (p.Ala2075Val)	ANKRD11 (A2075V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2996074	NM_013275.6(ANKRD11):c.3563G>A (p.Arg1188Gln)	ANKRD11 (R1188Q)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2995803	NM_013275.6(ANKRD11):c.7806+14G>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GBenign
Select item 2995792	NM_013275.6(ANKRD11):c.1768A>G (p.Lys590Glu)	ANKRD11 (K590E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2995674	NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs)	ANKRD11 (D549fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2995379	NM_013275.6(ANKRD11):c.6898G>A (p.Ala2300Thr)	ANKRD11 (A2300T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2995123	NM_013275.6(ANKRD11):c.5872C>A (p.Leu1958Ile)	ANKRD11 (L1958I)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2995116	NM_013275.6(ANKRD11):c.7184A>C (p.Gln2395Pro)	ANKRD11 (Q2395P)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2995086	NM_013275.6(ANKRD11):c.6381C>G (p.Pro2127=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2995010	NM_013275.6(ANKRD11):c.2207A>G (p.Lys736Arg)	ANKRD11 (K736R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2994204	NM_013275.6(ANKRD11):c.6618G>T (p.Glu2206Asp)	ANKRD11 (E2206D)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2991692	NM_013275.6(ANKRD11):c.5971C>A (p.Pro1991Thr)	ANKRD11 (P1991T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2987895	NM_013275.6(ANKRD11):c.-36G>A	ANKRD11, LOC128462377	Single nucleotide variant (synonymous variant +2 more)	KBG syndrome	GUncertain significance
Select item 2983273	NM_013275.6(ANKRD11):c.957G>A (p.Thr319=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 2981528	NM_013275.6(ANKRD11):c.3444C>A (p.Gly1148=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2980341	NM_013275.6(ANKRD11):c.6755G>C (p.Gly2252Ala)	ANKRD11 (G2252A)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2979990	NM_013275.6(ANKRD11):c.7806+10G>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 2979400	NM_013275.6(ANKRD11):c.2804C>T (p.Ser935Leu)	ANKRD11 (S935L)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2979034	NM_013275.6(ANKRD11):c.6487C>G (p.Pro2163Ala)	ANKRD11 (P2163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2975266	NM_013275.6(ANKRD11):c.4858C>G (p.Leu1620Val)	ANKRD11 (L1620V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2974246	NM_013275.6(ANKRD11):c.6246G>T (p.Glu2082Asp)	ANKRD11 (E2082D)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2973578	NM_013275.6(ANKRD11):c.2786G>T (p.Ser929Ile)	ANKRD11 (S929I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973577	NM_013275.6(ANKRD11):c.5238G>A (p.Thr1746=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2972623	NM_013275.6(ANKRD11):c.5158C>T (p.His1720Tyr)	ANKRD11 (H1720Y)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2971277	NM_013275.6(ANKRD11):c.2330A>G (p.Glu777Gly)	ANKRD11 (E777G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2970088	NM_013275.6(ANKRD11):c.7977A>T (p.Val2659=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2962982	NM_013275.6(ANKRD11):c.6262G>C (p.Ala2088Pro)	ANKRD11 (A2088P)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 2960094	NM_013275.6(ANKRD11):c.7128_7129delinsGT (p.Asp2376_Asp2377delinsGluTyr)	ANKRD11	Indel (missense variant)	KBG syndrome	GUncertain significance
Select item 2959510	NM_013275.6(ANKRD11):c.5608G>C (p.Ala1870Pro)	ANKRD11 (A1870P)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance

<< First< Prev

Page of 10