Related gene-specific medical variations for Gene (Select 9495) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 783690	NM_004857.3(AKAP5):c.1174T>C (p.Leu392=)	AKAP5, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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

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Links from Gene

Items: 33