ClinVar for Gene (Select 29123) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366888	NM_013275.6(ANKRD11):c.4061C>G (p.Ser1354Ter)	ANKRD11 (S1354*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3366233	NM_013275.6(ANKRD11):c.782A>G (p.Gln261Arg)	ANKRD11 (Q261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366088	NM_013275.6(ANKRD11):c.166A>G (p.Ser56Gly)	ANKRD11 (S56G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365938	NM_013275.6(ANKRD11):c.1856T>G (p.Val619Gly)	ANKRD11 (V619G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365190	NM_013275.6(ANKRD11):c.1696T>C (p.Ser566Pro)	ANKRD11 (S566P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364467	NM_013275.6(ANKRD11):c.5730_5780del (p.Asp1910_Pro1926del)	ANKRD11	Deletion	not provided	GUncertain significance
Select item 3364156	NM_013275.6(ANKRD11):c.5387GGA[1] (p.Arg1797del)	ANKRD11 (R1797del)	Microsatellite	not provided	GUncertain significance
Select item 3364138	NM_013275.6(ANKRD11):c.5062G>A (p.Val1688Ile)	ANKRD11 (V1688I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363731	NM_013275.6(ANKRD11):c.4689G>C (p.Lys1563Asn)	ANKRD11 (K1563N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3362061	NM_013275.6(ANKRD11):c.1358A>C (p.Lys453Thr)	ANKRD11 (K453T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361845	NM_013275.6(ANKRD11):c.7187_7189dup (p.Leu2396_Gln2397insLeu)	ANKRD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3361338	NM_013275.6(ANKRD11):c.2552A>G (p.Asp851Gly)	ANKRD11 (D851G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361166	NM_013275.6(ANKRD11):c.5978G>T (p.Arg1993Leu)	ANKRD11 (R1993L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360976	NM_013275.6(ANKRD11):c.4876C>A (p.Pro1626Thr)	ANKRD11 (P1626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360833	NM_013275.6(ANKRD11):c.1742C>T (p.Ser581Phe)	ANKRD11 (S581F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360774	NM_013275.6(ANKRD11):c.7652C>T (p.Pro2551Leu)	ANKRD11 (P2551L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360346	NM_013275.6(ANKRD11):c.6277G>C (p.Glu2093Gln)	ANKRD11 (E2093Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360306	NM_013275.6(ANKRD11):c.4789C>T (p.Arg1597Cys)	ANKRD11 (R1597C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360244	NM_013275.6(ANKRD11):c.92A>C (p.Lys31Thr)	ANKRD11 (K31T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359922	NM_013275.6(ANKRD11):c.4817A>G (p.Lys1606Arg)	ANKRD11 (K1606R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356348	NM_013275.6(ANKRD11):c.2165A>G (p.Lys722Arg)	ANKRD11 (K722R)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3355455	NM_013275.6(ANKRD11):c.7857G>A (p.Val2619=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related disorder	GLikely benign
Select item 3355337	NM_013275.6(ANKRD11):c.7579A>T (p.Ile2527Phe)	ANKRD11 (I2527F)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3355026	NM_013275.6(ANKRD11):c.88-1G>A	ANKRD11	Single nucleotide variant (splice acceptor variant)	ANKRD11-related disorder	GUncertain significance
Select item 3353705	NM_013275.6(ANKRD11):c.5947T>G (p.Ser1983Ala)	ANKRD11 (S1983A)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3353319	NM_013275.6(ANKRD11):c.2918G>T (p.Arg973Leu)	ANKRD11 (R973L)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3350838	NM_013275.6(ANKRD11):c.774G>T (p.Gly258=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related disorder	GLikely benign
Select item 3348589	NM_013275.6(ANKRD11):c.5791_5792del (p.Leu1931fs)	ANKRD11 (L1931fs)	Deletion (frameshift variant)	ANKRD11-related disorder	GLikely pathogenic
Select item 3347970	NM_013275.6(ANKRD11):c.4093C>T (p.Arg1365Ter)	ANKRD11 (R1365*)	Single nucleotide variant (nonsense)	ANKRD11-related disorder	GPathogenic
Select item 3347755	NM_013275.6(ANKRD11):c.6908C>T (p.Ala2303Val)	ANKRD11 (A2303V)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3346525	NM_013275.6(ANKRD11):c.7852G>C (p.Ala2618Pro)	ANKRD11 (A2618P)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3346524	NM_013275.6(ANKRD11):c.2088del (p.Glu697fs)	ANKRD11 (E697fs)	Deletion (frameshift variant)	ANKRD11-related disorder	GPathogenic
Select item 3345988	NM_013275.6(ANKRD11):c.875del (p.Ser292fs)	ANKRD11 (S292fs)	Deletion (frameshift variant)	ANKRD11-related disorder	GLikely pathogenic
Select item 3345897	NM_013275.6(ANKRD11):c.5959T>C (p.Phe1987Leu)	ANKRD11 (F1987L)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3345866	NM_013275.6(ANKRD11):c.2225del (p.Ala742fs)	ANKRD11 (A742fs)	Deletion (frameshift variant)	ANKRD11-related disorder	GLikely pathogenic
Select item 3345056	NM_013275.6(ANKRD11):c.6288G>T (p.Gly2096=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related disorder	GLikely benign
Select item 3344824	NM_013275.6(ANKRD11):c.4610G>A (p.Gly1537Asp)	ANKRD11 (G1537D)	Single nucleotide variant (missense variant)	ANKRD11-related disorder	GUncertain significance
Select item 3344709	NM_013275.6(ANKRD11):c.2296_2297del (p.Lys766fs)	ANKRD11 (K766fs)	Deletion (frameshift variant)	ANKRD11-related disorder	GLikely pathogenic
Select item 3344582	NM_013275.6(ANKRD11):c.489G>C (p.Lys163Asn)	ANKRD11 (K163N)	Single nucleotide variant (missense variant +1 more)	ANKRD11-related disorder	GUncertain significance
Select item 3343592	NM_013275.6(ANKRD11):c.1106A>G (p.Lys369Arg)	ANKRD11 (K369R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343178	NM_013275.6(ANKRD11):c.1804G>C (p.Ala602Pro)	ANKRD11 (A602P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342499	NM_013275.6(ANKRD11):c.2573G>A (p.Trp858Ter)	ANKRD11 (W858*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342373	NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)	ANKRD11 (R106*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3342323	NM_013275.6(ANKRD11):c.7282G>T (p.Glu2428Ter)	ANKRD11 (E2428*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342204	NM_013275.6(ANKRD11):c.5838G>A (p.Glu1946=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341906	NM_013275.6(ANKRD11):c.5339C>G (p.Ala1780Gly)	ANKRD11 (A1780G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341552	NM_013275.6(ANKRD11):c.4974T>C (p.Thr1658=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340926	NM_013275.6(ANKRD11):c.4495_4518del (p.Glu1499_Asp1506del)	ANKRD11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3340813	NM_013275.6(ANKRD11):c.6049G>A (p.Ala2017Thr)	ANKRD11 (A2017T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340385	NM_013275.6(ANKRD11):c.7471-1G>C	ANKRD11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3340276	NM_013275.6(ANKRD11):c.867C>G (p.Tyr289Ter)	ANKRD11 (Y289*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339959	NM_013275.6(ANKRD11):c.6046C>A (p.Pro2016Thr)	ANKRD11 (P2016T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339876	NM_013275.6(ANKRD11):c.3689A>G (p.Gln1230Arg)	ANKRD11 (Q1230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339789	NM_013275.6(ANKRD11):c.721G>A (p.Ala241Thr)	ANKRD11 (A241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338862	NM_013275.6(ANKRD11):c.5483C>A (p.Ser1828Ter)	ANKRD11 (S1828*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338530	NM_013275.6(ANKRD11):c.2512C>G (p.Arg838Gly)	ANKRD11 (R838G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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	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 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

<< First< Prev

Page of 10