ClinVar for MedGen (Select 66317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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_001416403.1(LOC128462377):c.32C>T (p.Ala11Val)	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 +1 more	GBenign/Likely benign
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)	KBG syndrome	GBenign
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)	KBG syndrome	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_001416403.1(LOC128462377):c.30G>A (p.Pro10=)	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)	KBG syndrome	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)	KBG syndrome	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	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
Select item 2957354	NM_013275.6(ANKRD11):c.7487C>T (p.Ser2496Phe)	ANKRD11 (S2496F)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2957266	NM_013275.6(ANKRD11):c.745-17G>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 2957071	NM_013275.6(ANKRD11):c.2016A>G (p.Ile672Met)	ANKRD11 (I672M)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2955652	NM_013275.6(ANKRD11):c.1205C>T (p.Ala402Val)	ANKRD11 (A402V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2955578	NM_013275.6(ANKRD11):c.6745C>G (p.Arg2249Gly)	ANKRD11 (R2249G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2921061	NM_013275.6(ANKRD11):c.4250A>C (p.Asp1417Ala)	ANKRD11 (D1417A)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2920717	NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)	ANKRD11 (E662fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2920235	NM_013275.6(ANKRD11):c.2661G>C (p.Glu887Asp)	ANKRD11 (E887D)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2919524	NM_013275.6(ANKRD11):c.3402G>T (p.Gly1134=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2919054	NM_013275.6(ANKRD11):c.6669G>A (p.Ala2223=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2918679	NM_013275.6(ANKRD11):c.1026C>T (p.Pro342=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2917921	NM_013275.6(ANKRD11):c.249G>A (p.Lys83=)	ANKRD11	Single nucleotide variant (synonymous variant +1 more)	KBG syndrome	GBenign
Select item 2917360	NM_013275.6(ANKRD11):c.7227G>A (p.Glu2409=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2916943	NM_013275.6(ANKRD11):c.914C>T (p.Ala305Val)	ANKRD11 (A305V)	Single nucleotide variant (missense variant)	KBG syndrome	GBenign
Select item 2916280	NM_013275.6(ANKRD11):c.3385A>G (p.Ser1129Gly)	ANKRD11 (S1129G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2915554	NM_013275.6(ANKRD11):c.6393G>C (p.Leu2131=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2914908	NM_013275.6(ANKRD11):c.2957A>G (p.Lys986Arg)	ANKRD11 (K986R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2913589	NM_013275.6(ANKRD11):c.5799G>A (p.Pro1933=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2912326	NM_013275.6(ANKRD11):c.5299G>A (p.Ala1767Thr)	ANKRD11 (A1767T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2912047	NM_013275.6(ANKRD11):c.2845C>T (p.Arg949Trp)	ANKRD11 (R949W)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2911972	NM_013275.6(ANKRD11):c.2309A>G (p.Lys770Arg)	ANKRD11 (K770R)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely benign
Select item 2911788	NM_013275.6(ANKRD11):c.2189G>A (p.Arg730Lys)	ANKRD11 (R730K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2911672	NM_013275.6(ANKRD11):c.3516C>T (p.His1172=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2911584	NM_013275.6(ANKRD11):c.1002A>G (p.Pro334=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2911241	NM_013275.6(ANKRD11):c.6327G>C (p.Leu2109=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 2909650	NM_013275.6(ANKRD11):c.3431C>A (p.Pro1144Gln)	ANKRD11 (P1144Q)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance

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