ANKRD11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 151121	GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3	ACSF3, ANKRD11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 154535	GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1	ANKRD11, LOC100287036 +37 more	Copy number loss	See cases	GPathogenic
Select item 59541	GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1	ANKRD11, LOC100287036 +35 more	Copy number loss	See cases	GPathogenic
Select item 2665007	Single allele	ANKRD11, LOC125177395 +3 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 1273107	NM_013275.6(ANKRD11):c.*280C>G	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276986	NM_013275.6(ANKRD11):c.*268G>A	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222539	NM_013275.6(ANKRD11):c.*265C>G	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189812	NM_013275.6(ANKRD11):c.*225C>T	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1205362	NM_013275.6(ANKRD11):c.*207C>T	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1269494	NM_013275.6(ANKRD11):c.*158C>T	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 584373	NC_000016.10:g.(?_89268458)_(89288690_?)del	ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 583986	NC_000016.10:g.(?_89268458)_(89317039_?)del	LOC105371414, ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 2647056	NM_013275.6(ANKRD11):c.*8G>A	ANKRD11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1708398	NM_013275.6(ANKRD11):c.7979T>C (p.Leu2660Ser)	ANKRD11 (L2660S)	Single nucleotide variant (missense variant)	See cases	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 2105521	NM_013275.6(ANKRD11):c.7957G>A (p.Asp2653Asn)	ANKRD11 (D2653N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2042979	NM_013275.6(ANKRD11):c.7956C>T (p.Val2652=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	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 2050525	NM_013275.6(ANKRD11):c.7952T>C (p.Met2651Thr)	ANKRD11 (M2651T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1301284	NM_013275.6(ANKRD11):c.7945G>A (p.Val2649Met)	ANKRD11 (V2649M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1761334	NM_013275.6(ANKRD11):c.7944C>T (p.Tyr2648=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 981745	NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)	ANKRD11 (Y2648*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 1704827	NM_013275.6(ANKRD11):c.7940_7942del (p.Phe2647del)	ANKRD11 (F2647del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1677123	NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)	ANKRD11 (F2647fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1938848	NM_013275.6(ANKRD11):c.7932G>T (p.Val2644=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 1761253	NM_013275.6(ANKRD11):c.7929G>C (p.Glu2643Asp)	ANKRD11 (E2643D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423151	NM_013275.6(ANKRD11):c.7927G>A (p.Glu2643Lys)	ANKRD11 (E2643K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981700	NM_013275.6(ANKRD11):c.7926C>T (p.Asn2642=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 1695679	NM_013275.6(ANKRD11):c.7921G>A (p.Val2641Met)	ANKRD11 (V2641M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305479	NM_013275.6(ANKRD11):c.7867_7888dup (p.Glu2630fs)	ANKRD11 (E2630fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 742972	NM_013275.6(ANKRD11):c.7887G>A (p.Gln2629=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 1973322	NM_013275.6(ANKRD11):c.7885C>A (p.Gln2629Lys)	ANKRD11 (Q2629K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1761011	NM_013275.6(ANKRD11):c.7881G>A (p.Lys2627=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 986142	NM_013275.6(ANKRD11):c.7873C>T (p.Gln2625Ter)	ANKRD11 (Q2625*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2672665	NM_013275.6(ANKRD11):c.7868_7872del (p.Glu2623fs)	ANKRD11 (E2623fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1313835	NM_013275.6(ANKRD11):c.7870T>C (p.Trp2624Arg)	ANKRD11 (W2624R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579340	NM_013275.6(ANKRD11):c.7855G>A (p.Val2619Met)	ANKRD11 (V2619M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932685	NM_013275.6(ANKRD11):c.7855G>T (p.Val2619Leu)	ANKRD11 (V2619L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134432	NM_013275.6(ANKRD11):c.7852G>A (p.Ala2618Thr)	ANKRD11 (A2618T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1188125	NM_013275.6(ANKRD11):c.7848G>C (p.Leu2616=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589562	NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)	ANKRD11 (L2616P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465324	NM_013275.6(ANKRD11):c.7845C>T (p.Ala2615=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 2861240	NM_013275.6(ANKRD11):c.7844C>T (p.Ala2615Val)	ANKRD11 (A2615V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 589763	NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 208708	NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	ANKRD11 (Q2609*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1718852	NM_013275.6(ANKRD11):c.7822C>G (p.Arg2608Gly)	ANKRD11 (R2608G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 803285	NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)	ANKRD11, TRAPPC2L (R2608W)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more	GConflicting classifications of pathogenicity
Select item 1303861	NM_013275.6(ANKRD11):c.7813CTC[1] (p.Leu2606del)	ANKRD11 (L2606del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2892910	NM_013275.6(ANKRD11):c.7815C>T (p.Leu2605=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GLikely benign
Select item 429654	NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)	ANKRD11 (L2605R)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GConflicting classifications of pathogenicity
Select item 1319265	NM_013275.6(ANKRD11):c.7812C>A (p.Cys2604Ter)	ANKRD11 (C2604*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1704730	NM_013275.6(ANKRD11):c.7808C>G (p.Thr2603Ser)	ANKRD11 (T2603S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439093	NM_013275.6(ANKRD11):c.7807-2A>G	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GUncertain significance
Select item 3030773	NM_013275.6(ANKRD11):c.7807-4G>A	ANKRD11	Single nucleotide variant (intron variant)	ANKRD11-related disorder	GLikely benign
Select item 697951	NM_013275.6(ANKRD11):c.7807-5C>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 1210914	NM_013275.6(ANKRD11):c.7807-88C>T	ANKRD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227528	NM_013275.6(ANKRD11):c.7807-141C>T	ANKRD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227244	NM_013275.6(ANKRD11):c.7807-304A>C	ANKRD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197181	NM_013275.6(ANKRD11):c.7806+138T>G	ANKRD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257171	NM_013275.6(ANKRD11):c.7806+82G>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome +1 more	GBenign
Select item 1198644	NM_013275.6(ANKRD11):c.7806+79del	ANKRD11	Deletion (intron variant)	not provided	GLikely benign
Select item 1219708	NM_013275.6(ANKRD11):c.7806+51T>C	ANKRD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222607	NM_013275.6(ANKRD11):c.7806+29C>T	ANKRD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2995803	NM_013275.6(ANKRD11):c.7806+14G>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GBenign
Select item 2157465	NM_013275.6(ANKRD11):c.7806+12G>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 1570302	NM_013275.6(ANKRD11):c.7806+11C>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GBenign
Select item 2979990	NM_013275.6(ANKRD11):c.7806+10G>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GLikely benign
Select item 2900246	NM_013275.6(ANKRD11):c.7806+4G>C	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 389465	NM_013275.6(ANKRD11):c.7806+4G>A	ANKRD11	Single nucleotide variant (intron variant)	ANKRD11-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1210092	NM_013275.6(ANKRD11):c.7806+1G>T	ANKRD11	Single nucleotide variant (splice donor variant)	KBG syndrome	GPathogenic
Select item 422344	NM_013275.6(ANKRD11):c.7788_7804del (p.Asp2596fs)	ANKRD11 (D2596fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 703249	NM_013275.6(ANKRD11):c.7801A>C (p.Met2601Leu)	ANKRD11 (M2601L)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GLikely benign

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