AKAP5[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2208635	NM_004857.3(AKAP5):c.28G>A (p.Val10Ile)	ZBTB25, AKAP5 (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541951	NM_004857.3(AKAP5):c.48G>C (p.Lys16Asn)	AKAP5, ZBTB25 (K16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308049	NM_004857.3(AKAP5):c.124A>C (p.Lys42Gln)	AKAP5, ZBTB25 (K42Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106049	NM_004857.3(AKAP5):c.136G>T (p.Ala46Ser)	AKAP5, ZBTB25 (A46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221567	NM_004857.3(AKAP5):c.167C>T (p.Ala56Val)	AKAP5, ZBTB25 (A56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203965	NM_004857.3(AKAP5):c.227G>T (p.Arg76Leu)	AKAP5, ZBTB25 (R76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106052	NM_004857.3(AKAP5):c.232G>T (p.Ala78Ser)	AKAP5, ZBTB25 (A78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542341	NM_004857.3(AKAP5):c.272G>T (p.Arg91Met)	AKAP5, ZBTB25 (R91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106055	NM_004857.3(AKAP5):c.286A>C (p.Lys96Gln)	AKAP5, ZBTB25 (K96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479858	NM_004857.3(AKAP5):c.319C>T (p.Pro107Ser)	AKAP5, ZBTB25 (P107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213110	NM_004857.3(AKAP5):c.383C>T (p.Pro128Leu)	AKAP5, ZBTB25 (P128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607583	NM_004857.3(AKAP5):c.497A>C (p.Gln166Pro)	AKAP5, ZBTB25 (Q166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254311	NM_004857.3(AKAP5):c.498G>C (p.Gln166His)	AKAP5, ZBTB25 (Q166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280845	NM_004857.3(AKAP5):c.515A>G (p.Gln172Arg)	AKAP5, ZBTB25 (Q172R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330526	NM_004857.3(AKAP5):c.517G>C (p.Ala173Pro)	AKAP5, ZBTB25 (A173P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779687	NM_004857.3(AKAP5):c.563G>A (p.Arg188Gln)	AKAP5, ZBTB25 (R188Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2278760	NM_004857.3(AKAP5):c.628A>T (p.Ile210Phe)	AKAP5, ZBTB25 (I210F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280841	NM_004857.3(AKAP5):c.649G>C (p.Asp217His)	AKAP5, ZBTB25 (D217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609059	NM_004857.3(AKAP5):c.659A>C (p.His220Pro)	AKAP5, ZBTB25 (H220P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280827	NM_004857.3(AKAP5):c.677G>A (p.Gly226Glu)	AKAP5, ZBTB25 (G226E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280837	NM_004857.3(AKAP5):c.682C>G (p.Leu228Val)	AKAP5, ZBTB25 (L228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280816	NM_004857.3(AKAP5):c.704C>G (p.Thr235Arg)	AKAP5, ZBTB25 (T235R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296483	NM_004857.3(AKAP5):c.749T>C (p.Leu250Pro)	AKAP5, ZBTB25 (L250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526201	NM_004857.3(AKAP5):c.772C>G (p.Gln258Glu)	AKAP5, ZBTB25 (Q258E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466174	NM_004857.3(AKAP5):c.842G>A (p.Ser281Asn)	AKAP5, ZBTB25 (S281N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785460	NM_004857.3(AKAP5):c.940G>A (p.Glu314Lys)	AKAP5, ZBTB25 (E314K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2481156	NM_004857.3(AKAP5):c.976A>C (p.Lys326Gln)	AKAP5, ZBTB25 (K326Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106036	NM_004857.3(AKAP5):c.1003A>G (p.Met335Val)	AKAP5, ZBTB25 (M335V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280807	NM_004857.3(AKAP5):c.1044T>A (p.Ser348Arg)	AKAP5, ZBTB25 (S348R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471336	NM_004857.3(AKAP5):c.1117G>A (p.Val373Ile)	AKAP5, ZBTB25 (V373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404789	NM_004857.3(AKAP5):c.1135G>A (p.Gly379Ser)	AKAP5, ZBTB25 (G379S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533217	NM_004857.3(AKAP5):c.1171C>T (p.Leu391Phe)	AKAP5, ZBTB25 (L391F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783690	NM_004857.3(AKAP5):c.1174T>C (p.Leu392=)	AKAP5, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46