25681[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 2323790	NM_024669.3(ANKRD55):c.1833T>A (p.Ser611Arg)	ANKRD55 (S611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411435	NM_024669.3(ANKRD55):c.1745G>A (p.Arg582Gln)	ANKRD55 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126905	NM_024669.3(ANKRD55):c.1722A>T (p.Lys574Asn)	ANKRD55 (K574N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126904	NM_024669.3(ANKRD55):c.1687A>G (p.Thr563Ala)	ANKRD55 (T563A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352543	NM_024669.3(ANKRD55):c.1585G>T (p.Val529Phe)	ANKRD55 (V529F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126903	NM_024669.3(ANKRD55):c.1582G>C (p.Glu528Gln)	ANKRD55 (E528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531465	NM_024669.3(ANKRD55):c.1529C>T (p.Ser510Phe)	ANKRD55 (S510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126902	NM_024669.3(ANKRD55):c.1421G>T (p.Arg474Leu)	ANKRD55 (R474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297916	NM_024669.3(ANKRD55):c.1411C>G (p.Gln471Glu)	ANKRD55 (Q471E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248113	NM_024669.3(ANKRD55):c.1399G>A (p.Ala467Thr)	ANKRD55 (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323721	NM_024669.3(ANKRD55):c.1384G>C (p.Ala462Pro)	ANKRD55 (A462P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456915	NM_024669.3(ANKRD55):c.1307G>A (p.Ser436Asn)	ANKRD55 (S436N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510772	NM_024669.3(ANKRD55):c.1301C>T (p.Thr434Met)	ANKRD55 (T434M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398200	NM_024669.3(ANKRD55):c.1294A>G (p.Ile432Val)	ANKRD55 (I432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126900	NM_024669.3(ANKRD55):c.1276C>T (p.Arg426Cys)	ANKRD55 (R426C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322675	NM_024669.3(ANKRD55):c.1234G>A (p.Asp412Asn)	ANKRD55 (D412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470295	NM_024669.3(ANKRD55):c.1195G>A (p.Asp399Asn)	ANKRD55 (D399N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719615	NM_024669.3(ANKRD55):c.1126T>C (p.Ser376Pro)	ANKRD55 (S376P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2218027	NM_024669.3(ANKRD55):c.1106G>A (p.Arg369Gln)	ANKRD55 (R369Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410928	NM_024669.3(ANKRD55):c.1078G>A (p.Ala360Thr)	ANKRD55 (A360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741976	NM_024669.3(ANKRD55):c.1052G>A (p.Cys351Tyr)	ANKRD55 (C351Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2477036	NM_024669.3(ANKRD55):c.1048T>C (p.Phe350Leu)	ANKRD55 (F350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260842	NM_024669.3(ANKRD55):c.1042C>G (p.Gln348Glu)	ANKRD55 (Q348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291316	NM_024669.3(ANKRD55):c.1000A>G (p.Ser334Gly)	ANKRD55 (S334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247764	NM_024669.3(ANKRD55):c.958G>A (p.Glu320Lys)	ANKRD55 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342573	NM_024669.3(ANKRD55):c.931A>G (p.Thr311Ala)	ANKRD55 (T311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526283	NM_024669.3(ANKRD55):c.911A>G (p.Tyr304Cys)	ANKRD55 (Y304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126910	NM_024669.3(ANKRD55):c.859T>G (p.Leu287Val)	ANKRD55 (L287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126909	NM_024669.3(ANKRD55):c.838T>G (p.Cys280Gly)	ANKRD55 (C280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785800	NM_024669.3(ANKRD55):c.835G>A (p.Glu279Lys)	ANKRD55 (E279K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2469546	NM_024669.3(ANKRD55):c.740T>C (p.Ile247Thr)	ANKRD55 (I247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787817	NM_024669.3(ANKRD55):c.723G>A (p.Ala241=)	ANKRD55	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3126908	NM_024669.3(ANKRD55):c.667A>T (p.Ile223Leu)	ANKRD55 (I223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336123	NM_024669.3(ANKRD55):c.659G>C (p.Gly220Ala)	ANKRD55 (G220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386933	NM_024669.3(ANKRD55):c.572T>C (p.Val191Ala)	ANKRD55 (V191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269953	NM_024669.3(ANKRD55):c.568C>T (p.Leu190Phe)	ANKRD55 (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607820	NM_024669.3(ANKRD55):c.478A>G (p.Asn160Asp)	ANKRD55 (N160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743566	NM_024669.3(ANKRD55):c.474G>A (p.Gln158=)	ANKRD55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286470	NM_024669.3(ANKRD55):c.415G>A (p.Asp139Asn)	ANKRD55 (D139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366411	NM_024669.3(ANKRD55):c.382C>T (p.Arg128Cys)	ANKRD55 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360031	NM_024669.3(ANKRD55):c.377A>G (p.Asn126Ser)	ANKRD55 (N126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304991	NM_024669.3(ANKRD55):c.296G>A (p.Cys99Tyr)	ANKRD55 (C99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379644	NM_024669.3(ANKRD55):c.236T>C (p.Leu79Pro)	ANKRD55 (L79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351134	NM_024669.3(ANKRD55):c.214C>T (p.Arg72Cys)	ANKRD55 (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261616	NM_024669.3(ANKRD55):c.89T>C (p.Met30Thr)	ANKRD55 (M30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286092	NM_024669.3(ANKRD55):c.27C>A (p.Phe9Leu)	ANKRD55 (F9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265847	NM_024669.3(ANKRD55):c.24T>A (p.Asp8Glu)	ANKRD55 (D8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265846	NM_024669.3(ANKRD55):c.23A>T (p.Asp8Val)	ANKRD55 (D8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126907	NM_024669.3(ANKRD55):c.20T>G (p.Met7Arg)	ANKRD55 (M7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 1809389	GRCh37/hg19 5q11.2(chr5:55063434-55686587)x3	ANKRD55, DDX4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 61