AKAP13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 58379	GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3	AKAP13, LOC112272622 +29 more	Copy number gain	See cases	GUncertain significance
Select item 151927	GRCh38/hg38 15q25.3(chr15:85228050-85544770)x3	AKAP13, LOC112272622 +21 more	Copy number gain	See cases	GLikely benign
Select item 145300	GRCh38/hg38 15q25.3(chr15:85228050-85593726)x3	AKAP13, LOC112272622 +23 more	Copy number gain	See cases	GBenign
Select item 145718	GRCh38/hg38 15q25.3(chr15:85290841-85544770)x3	AKAP13, LOC112272622 +20 more	Copy number gain	See cases	GBenign
Select item 58381	GRCh38/hg38 15q25.3(chr15:85327915-85556913)x3	AKAP13, LOC112272622 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 2328840	NM_007200.5(AKAP13):c.70G>C (p.Asp24His)	AKAP13 (D24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404655	NM_007200.5(AKAP13):c.124C>T (p.Arg42Cys)	AKAP13 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371888	NM_007200.5(AKAP13):c.218G>A (p.Cys73Tyr)	AKAP13 (C73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105318	NM_007200.5(AKAP13):c.221C>G (p.Ala74Gly)	AKAP13 (A74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275113	NM_007200.5(AKAP13):c.458G>A (p.Gly153Glu)	AKAP13 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308602	NM_007200.5(AKAP13):c.468G>C (p.Gln156His)	AKAP13 (Q156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105466	NM_007200.5(AKAP13):c.491G>A (p.Arg164Gln)	AKAP13 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252333	NM_007200.5(AKAP13):c.515T>C (p.Val172Ala)	AKAP13 (V172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105506	NM_007200.5(AKAP13):c.552G>T (p.Leu184Phe)	AKAP13 (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105516	NM_007200.5(AKAP13):c.560C>A (p.Pro187Gln)	AKAP13 (P187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589221	NM_007200.5(AKAP13):c.588C>G (p.His196Gln)	AKAP13 (H196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259883	NM_007200.5(AKAP13):c.643C>G (p.Leu215Val)	AKAP13 (L215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399682	NM_007200.5(AKAP13):c.704A>G (p.Tyr235Cys)	AKAP13 (Y235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105622	NM_007200.5(AKAP13):c.716A>C (p.Tyr239Ser)	AKAP13 (Y239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105653	NM_007200.5(AKAP13):c.751G>A (p.Asp251Asn)	AKAP13 (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325138	NM_007200.5(AKAP13):c.758A>C (p.Tyr253Ser)	AKAP13 (Y253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105672	NM_007200.5(AKAP13):c.770C>G (p.Ser257Cys)	AKAP13 (S257C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105708	NM_007200.5(AKAP13):c.815G>A (p.Cys272Tyr)	AKAP13 (C272Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105713	NM_007200.5(AKAP13):c.818C>G (p.Thr273Ser)	AKAP13 (T273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105730	NM_007200.5(AKAP13):c.851A>C (p.Gln284Pro)	AKAP13 (Q284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220280	NM_007200.5(AKAP13):c.914A>G (p.Gln305Arg)	AKAP13 (Q305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770627	NM_007200.5(AKAP13):c.1000G>A (p.Glu334Lys)	AKAP13 (E334K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2253742	NM_007200.5(AKAP13):c.1013G>C (p.Ser338Thr)	AKAP13 (S338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105211	NM_007200.5(AKAP13):c.1133G>A (p.Arg378Lys)	AKAP13 (R378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392134	NM_007200.5(AKAP13):c.1148T>C (p.Val383Ala)	AKAP13 (V383A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105218	NM_007200.5(AKAP13):c.1172C>G (p.Ser391Cys)	AKAP13 (S391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228423	NM_007200.5(AKAP13):c.1174G>C (p.Gly392Arg)	AKAP13 (G392R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605642	NM_007200.5(AKAP13):c.1195A>G (p.Ser399Gly)	AKAP13 (S399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528532	NM_007200.5(AKAP13):c.1218T>A (p.Asp406Glu)	AKAP13 (D406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770628	NM_007200.5(AKAP13):c.1230G>A (p.Lys410=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2608080	NM_007200.5(AKAP13):c.1258A>G (p.Asn420Asp)	AKAP13 (N420D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477662	NM_007200.5(AKAP13):c.1382C>T (p.Ser461Phe)	AKAP13 (S461F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618612	NM_007200.5(AKAP13):c.1486A>T (p.Asn496Tyr)	AKAP13 (N496Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775359	NM_007200.5(AKAP13):c.1491G>A (p.Val497=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2353042	NM_007200.5(AKAP13):c.1508G>A (p.Ser503Asn)	AKAP13 (S503N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406678	NM_007200.5(AKAP13):c.1567G>A (p.Val523Ile)	AKAP13 (V523I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380545	NM_007200.5(AKAP13):c.1588A>G (p.Lys530Glu)	AKAP13 (K530E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262132	NM_007200.5(AKAP13):c.1610C>T (p.Ala537Val)	AKAP13 (A537V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105250	NM_007200.5(AKAP13):c.1640A>C (p.Lys547Thr)	AKAP13 (K547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557711	NM_007200.5(AKAP13):c.1672G>A (p.Glu558Lys)	AKAP13 (E558K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385074	NM_007200.5(AKAP13):c.1679C>T (p.Thr560Ile)	AKAP13 (T560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620314	NM_007200.5(AKAP13):c.1684A>C (p.Thr562Pro)	AKAP13 (T562P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327715	NM_007200.5(AKAP13):c.1711T>C (p.Ser571Pro)	AKAP13 (S571P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510112	NM_007200.5(AKAP13):c.1721G>T (p.Arg574Leu)	AKAP13 (R574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105277	NM_007200.5(AKAP13):c.1751A>G (p.Gln584Arg)	AKAP13 (Q584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710057	NM_007200.5(AKAP13):c.1786A>G (p.Lys596Glu)	AKAP13 (K596E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105280	NM_007200.5(AKAP13):c.1804G>A (p.Glu602Lys)	AKAP13 (E602K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324107	NM_007200.5(AKAP13):c.1816C>A (p.Leu606Ile)	AKAP13 (L606I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332740	NM_007200.5(AKAP13):c.1825G>T (p.Ala609Ser)	AKAP13 (A609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536043	NM_007200.5(AKAP13):c.1841C>T (p.Ala614Val)	AKAP13 (A614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105295	NM_007200.5(AKAP13):c.1843A>G (p.Met615Val)	AKAP13 (M615V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105297	NM_007200.5(AKAP13):c.1861G>A (p.Ala621Thr)	AKAP13 (A621T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 771009	NM_007200.5(AKAP13):c.1917A>G (p.Ser639=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645653	NM_007200.5(AKAP13):c.1932C>T (p.Ser644=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105302	NM_007200.5(AKAP13):c.2056A>C (p.Ile686Leu)	AKAP13 (I686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105308	NM_007200.5(AKAP13):c.2063G>A (p.Ser688Asn)	AKAP13 (S688N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236865	NM_007200.5(AKAP13):c.2190T>A (p.Asp730Glu)	AKAP13 (D730E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105315	NM_007200.5(AKAP13):c.2197C>A (p.Pro733Thr)	AKAP13 (P733T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305682	NM_007200.5(AKAP13):c.2335G>A (p.Val779Ile)	AKAP13 (V779I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778101	NM_007200.5(AKAP13):c.2471A>T (p.Tyr824Phe)	AKAP13, LOC130057844 (Y824F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645654	NM_007200.5(AKAP13):c.2510C>T (p.Thr837Met)	AKAP13 (T837M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645655	NM_007200.5(AKAP13):c.2534T>G (p.Val845Gly)	AKAP13 (V845G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1245367	NM_007200.5(AKAP13):c.2534T>C (p.Val845Ala)	AKAP13 (V845A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2461939	NM_007200.5(AKAP13):c.2575G>A (p.Gly859Arg)	AKAP13 (G859R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211118	NM_007200.5(AKAP13):c.2591G>A (p.Ser864Asn)	AKAP13 (S864N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770249	NM_007200.5(AKAP13):c.2745G>C (p.Leu915=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2540744	NM_007200.5(AKAP13):c.2786A>G (p.Asp929Gly)	AKAP13 (D929G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326518	NM_007200.5(AKAP13):c.2787T>A (p.Asp929Glu)	AKAP13 (D929E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351292	NM_007200.5(AKAP13):c.2951C>T (p.Pro984Leu)	AKAP13 (P984L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326519	NM_007200.5(AKAP13):c.3031G>C (p.Gly1011Arg)	AKAP13 (G1011R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395934	NM_007200.5(AKAP13):c.3040G>T (p.Ala1014Ser)	AKAP13 (A1014S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105338	NM_007200.5(AKAP13):c.3048C>A (p.Ser1016Arg)	AKAP13 (S1016R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603847	NM_007200.5(AKAP13):c.3053T>A (p.Val1018Glu)	AKAP13 (V1018E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325617	NM_007200.5(AKAP13):c.3056C>T (p.Pro1019Leu)	AKAP13 (P1019L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249428	NM_007200.5(AKAP13):c.3154G>T (p.Asp1052Tyr)	AKAP13 (D1052Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645656	NM_007200.5(AKAP13):c.3162C>T (p.Ser1054=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768721	NM_007200.5(AKAP13):c.3216T>C (p.Thr1072=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645657	NM_007200.5(AKAP13):c.3264G>A (p.Thr1088=)	AKAP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569746	NM_007200.5(AKAP13):c.3275C>T (p.Thr1092Ile)	AKAP13 (T1092I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210050	NM_007200.5(AKAP13):c.3459A>G (p.Ile1153Met)	AKAP13, LOC125138301 (I1153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456804	NM_007200.5(AKAP13):c.3466G>A (p.Asp1156Asn)	AKAP13, LOC125138301 (D1156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105352	NM_007200.5(AKAP13):c.3505T>C (p.Cys1169Arg)	AKAP13, LOC125138301 (C1169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778102	NM_007200.5(AKAP13):c.3525G>A (p.Glu1175=)	AKAP13, LOC125138301	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2469970	NM_007200.5(AKAP13):c.3533A>G (p.Gln1178Arg)	AKAP13, LOC125138301 (Q1178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105357	NM_007200.5(AKAP13):c.3542A>G (p.Asp1181Gly)	AKAP13, LOC125138301 (D1181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277427	NM_007200.5(AKAP13):c.3648G>T (p.Met1216Ile)	AKAP13 (M1216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105363	NM_007200.5(AKAP13):c.3656C>T (p.Pro1219Leu)	AKAP13 (P1219L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459927	NM_007200.5(AKAP13):c.3686C>G (p.Ser1229Cys)	AKAP13 (S1229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619430	NM_007200.5(AKAP13):c.3761G>C (p.Arg1254Pro)	AKAP13 (R1254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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