ClinVar for Gene (Select 29123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337800	NM_013275.6(ANKRD11):c.5401del (p.Glu1801fs)	ANKRD11 (E1801fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337799	NM_013275.6(ANKRD11):c.6340del (p.Gln2114fs)	ANKRD11 (Q2114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337629	NM_013275.6(ANKRD11):c.4334_4335dup (p.Lys1446Ter)	ANKRD11 (K1446*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 3337233	NM_013275.6(ANKRD11):c.3170_3171del (p.Lys1057fs)	ANKRD11 (K1057fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3296332	NM_013275.6(ANKRD11):c.139G>A (p.Gly47Ser)	ANKRD11 (G47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296331	NM_013275.6(ANKRD11):c.2360T>C (p.Ile787Thr)	ANKRD11 (I787T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296330	NM_013275.6(ANKRD11):c.2948G>T (p.Ser983Ile)	ANKRD11 (S983I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296327	NM_013275.6(ANKRD11):c.3550A>G (p.Arg1184Gly)	ANKRD11 (R1184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296317	NM_013275.6(ANKRD11):c.5183G>C (p.Ser1728Thr)	ANKRD11 (S1728T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296311	NM_013275.6(ANKRD11):c.689A>G (p.Lys230Arg)	ANKRD11 (K230R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296302	NM_013275.6(ANKRD11):c.2515G>T (p.Asp839Tyr)	ANKRD11 (D839Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296296	NM_013275.6(ANKRD11):c.6374C>T (p.Ala2125Val)	ANKRD11 (A2125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296286	NM_013275.6(ANKRD11):c.2751_2752del (p.Lys919fs)	ANKRD11 (K919fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3296276	NM_013275.6(ANKRD11):c.5564A>G (p.Tyr1855Cys)	ANKRD11 (Y1855C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296251	NM_013275.6(ANKRD11):c.1247C>T (p.Ala416Val)	ANKRD11 (A416V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257491	NM_013275.6(ANKRD11):c.7841C>T (p.Ala2614Val)	ANKRD11 (A2614V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257451	NM_013275.6(ANKRD11):c.1541T>G (p.Leu514Arg)	ANKRD11 (L514R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257192	NM_013275.6(ANKRD11):c.6759C>T (p.Ser2253=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3252873	NM_013275.6(ANKRD11):c.3599_3600del (p.Lys1200fs)	ANKRD11 (K1200fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3252849	NM_013275.6(ANKRD11):c.2017C>G (p.Leu673Val)	ANKRD11 (L673V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252686	NM_013275.6(ANKRD11):c.3660_3668dup (p.Arg1223_Ala1224insLysAspArg)	ANKRD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3252483	NM_013275.6(ANKRD11):c.1120G>T (p.Glu374Ter)	ANKRD11 (E374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3251040	NM_013275.6(ANKRD11):c.1001C>G (p.Pro334Arg)	ANKRD11 (P334R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250948	NM_013275.6(ANKRD11):c.6177C>T (p.Pro2059=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250482	NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)	ANKRD11 (K995*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243422	NC_000016.9:g.(?_89556653)_(89623501_?)del	ANKRD11, SPG7	Deletion	Hereditary spastic paraplegia 7	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	ACSF3, ANKRD11 +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 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3239478	NM_013275.6(ANKRD11):c.4975C>T (p.Pro1659Ser)	ANKRD11 (P1659S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239184	NM_013275.6(ANKRD11):c.5978G>A (p.Arg1993His)	ANKRD11 (R1993H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239007	NM_013275.6(ANKRD11):c.6239C>T (p.Ala2080Val)	ANKRD11 (A2080V)	Single nucleotide variant (missense variant)	not provided	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 3234819	NM_013275.6(ANKRD11):c.4287T>A (p.Asp1429Glu)	ANKRD11 (D1429E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234817	NM_013275.6(ANKRD11):c.6566C>G (p.Ala2189Gly)	ANKRD11 (A2189G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234518	NM_013275.6(ANKRD11):c.1110C>T (p.Asp370=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234409	NM_013275.6(ANKRD11):c.2715C>T (p.Phe905=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234361	NM_013275.6(ANKRD11):c.2718A>G (p.Arg906=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234018	NM_013275.6(ANKRD11):c.6983del (p.Arg2328fs)	ANKRD11 (R2328fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3226247	NM_013275.6(ANKRD11):c.2319C>T (p.Pro773=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3122653	NM_013275.6(ANKRD11):c.7953G>A (p.Met2651Ile)	ANKRD11 (M2651I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122634	NM_013275.6(ANKRD11):c.7487_7490dup (p.Ala2498fs)	ANKRD11 (A2498fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3122632	NM_013275.6(ANKRD11):c.7470+2dup	ANKRD11	Duplication (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3122624	NM_013275.6(ANKRD11):c.7309C>T (p.Pro2437Ser)	ANKRD11 (P2437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122565	NM_013275.6(ANKRD11):c.6752T>C (p.Leu2251Pro)	ANKRD11 (L2251P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122521	NM_013275.6(ANKRD11):c.6431A>G (p.Gln2144Arg)	ANKRD11 (Q2144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122520	NM_013275.6(ANKRD11):c.6371T>A (p.Phe2124Tyr)	ANKRD11 (F2124Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122519	NM_013275.6(ANKRD11):c.6349C>G (p.Pro2117Ala)	ANKRD11 (P2117A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122516	NM_013275.6(ANKRD11):c.6302G>T (p.Ser2101Ile)	ANKRD11 (S2101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122507	NM_013275.6(ANKRD11):c.6191C>G (p.Ser2064Cys)	ANKRD11 (S2064C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122467	NM_013275.6(ANKRD11):c.6053C>T (p.Pro2018Leu)	ANKRD11 (P2018L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122455	NM_013275.6(ANKRD11):c.5858C>T (p.Pro1953Leu)	ANKRD11 (P1953L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122451	NM_013275.6(ANKRD11):c.5798C>T (p.Pro1933Leu)	ANKRD11 (P1933L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122432	NM_013275.6(ANKRD11):c.5627C>T (p.Thr1876Ile)	ANKRD11 (T1876I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122401	NM_013275.6(ANKRD11):c.5396C>T (p.Pro1799Leu)	ANKRD11 (P1799L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122355	NM_013275.6(ANKRD11):c.4852C>G (p.Pro1618Ala)	ANKRD11 (P1618A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122352	NM_013275.6(ANKRD11):c.4817A>T (p.Lys1606Met)	ANKRD11 (K1606M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122348	NM_013275.6(ANKRD11):c.4815G>T (p.Met1605Ile)	ANKRD11 (M1605I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122306	NM_013275.6(ANKRD11):c.430A>G (p.Thr144Ala)	ANKRD11 (T144A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122290	NM_013275.6(ANKRD11):c.3910_3911dup (p.Ser1305fs)	ANKRD11 (S1305fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3122272	NM_013275.6(ANKRD11):c.3617A>G (p.Lys1206Arg)	ANKRD11 (K1206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122268	NM_013275.6(ANKRD11):c.3594del (p.Glu1199fs)	ANKRD11 (E1199fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3122254	NM_013275.6(ANKRD11):c.3212G>T (p.Gly1071Val)	ANKRD11 (G1071V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122250	NM_013275.6(ANKRD11):c.3095C>G (p.Ser1032Cys)	ANKRD11 (S1032C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122246	NM_013275.6(ANKRD11):c.3085A>T (p.Lys1029Ter)	ANKRD11 (K1029*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3122245	NM_013275.6(ANKRD11):c.3041G>C (p.Gly1014Ala)	ANKRD11 (G1014A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122233	NM_013275.6(ANKRD11):c.2918G>A (p.Arg973Gln)	ANKRD11 (R973Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122227	NM_013275.6(ANKRD11):c.2804C>G (p.Ser935Trp)	ANKRD11 (S935W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122224	NM_013275.6(ANKRD11):c.2759G>A (p.Arg920Lys)	ANKRD11 (R920K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122146	NM_013275.6(ANKRD11):c.1676G>T (p.Trp559Leu)	ANKRD11 (W559L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122121	NM_013275.6(ANKRD11):c.1385C>G (p.Thr462Arg)	ANKRD11 (T462R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122112	NM_013275.6(ANKRD11):c.1356_1359del (p.Asn452fs)	ANKRD11 (N452fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3122097	NM_013275.6(ANKRD11):c.1144T>G (p.Ser382Ala)	ANKRD11 (S382A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3069075	NM_013275.6(ANKRD11):c.219G>C (p.Ser73=)	ANKRD11	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3069074	NM_013275.6(ANKRD11):c.37G>A (p.Glu13Lys)	ANKRD11 (E13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3067687	NM_013275.6(ANKRD11):c.2635G>T (p.Glu879Ter)	ANKRD11 (E879*)	Single nucleotide variant (nonsense)	not provided	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 3063855	NM_013275.6(ANKRD11):c.6403C>A (p.Pro2135Thr)	ANKRD11 (P2135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063471	GRCh37/hg19 16q24.3(chr16:89462287-89526985)x1	ANKRD11, LOC101927817	Copy number loss	not specified	GPathogenic
Select item 3063464	GRCh37/hg19 16q24.3(chr16:89472880-89612756)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063429	GRCh37/hg19 16q24.3(chr16:89127212-89339094)x3	ACSF3, ANKRD11 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063426	GRCh37/hg19 16q24.3(chr16:89151360-89518831)x1	ACSF3, ANKRD11 +4 more	Copy number loss	not specified	GPathogenic

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