AKAP3[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2465642	NM_001278309.2(AKAP3):c.2501A>G (p.Asn834Ser)	AKAP3 (N834S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720004	NM_001278309.2(AKAP3):c.2472G>A (p.Val824=)	AKAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3280786	NM_001278309.2(AKAP3):c.2470G>T (p.Val824Leu)	AKAP3 (V824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466021	NM_001278309.2(AKAP3):c.2455G>A (p.Glu819Lys)	AKAP3 (E819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105860	NM_001278309.2(AKAP3):c.2428G>A (p.Ala810Thr)	AKAP3 (A810T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500165	NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)	AKAP3 (H762fs)	Microsatellite (frameshift variant)	Spermatogenic failure 82	GPathogenic
Select item 2268672	NM_001278309.2(AKAP3):c.2281A>G (p.Asn761Asp)	AKAP3 (N761D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105849	NM_001278309.2(AKAP3):c.2179G>A (p.Glu727Lys)	AKAP3 (E727K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461232	NM_001278309.2(AKAP3):c.2137A>G (p.Ser713Gly)	AKAP3 (S713G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280768	NM_001278309.2(AKAP3):c.2123C>T (p.Ser708Leu)	AKAP3 (S708L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105839	NM_001278309.2(AKAP3):c.1955G>C (p.Gly652Ala)	AKAP3 (G652A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358321	NM_001278309.2(AKAP3):c.1940C>T (p.Pro647Leu)	AKAP3 (P647L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517235	NM_001278309.2(AKAP3):c.1922A>T (p.Tyr641Phe)	AKAP3 (Y641F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382494	NM_001278309.2(AKAP3):c.1868A>T (p.Lys623Met)	AKAP3 (K623M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496139	NM_001278309.2(AKAP3):c.1864G>A (p.Val622Ile)	AKAP3 (V622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105823	NM_001278309.2(AKAP3):c.1858C>G (p.Gln620Glu)	AKAP3 (Q620E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206823	NM_001278309.2(AKAP3):c.1853C>T (p.Pro618Leu)	AKAP3 (P618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220697	NM_001278309.2(AKAP3):c.1795C>T (p.Arg599Trp)	AKAP3 (R599W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280775	NM_001278309.2(AKAP3):c.1762A>G (p.Lys588Glu)	AKAP3 (K588E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327499	NM_001278309.2(AKAP3):c.1729C>G (p.Pro577Ala)	AKAP3 (P577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621645	NM_001278309.2(AKAP3):c.1625G>A (p.Gly542Glu)	AKAP3 (G542E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245213	NM_001278309.2(AKAP3):c.1553A>G (p.Tyr518Cys)	AKAP3 (Y518C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477490	NM_001278309.2(AKAP3):c.1537C>T (p.Pro513Ser)	AKAP3 (P513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375097	NM_001278309.2(AKAP3):c.1415T>C (p.Leu472Pro)	AKAP3 (L472P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463377	NM_001278309.2(AKAP3):c.1361T>A (p.Ile454Asn)	AKAP3 (I454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250264	NM_001278309.2(AKAP3):c.1349G>A (p.Gly450Asp)	AKAP3 (G450D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458779	NM_001278309.2(AKAP3):c.1337C>T (p.Ala446Val)	AKAP3 (A446V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455386	NM_001278309.2(AKAP3):c.1323G>C (p.Glu441Asp)	AKAP3 (E441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105774	NM_001278309.2(AKAP3):c.1313C>T (p.Pro438Leu)	AKAP3 (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401742	NM_001278309.2(AKAP3):c.1285A>C (p.Lys429Gln)	AKAP3 (K429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476969	NM_001278309.2(AKAP3):c.1241A>G (p.Asp414Gly)	AKAP3 (D414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105767	NM_001278309.2(AKAP3):c.1195G>C (p.Asp399His)	AKAP3 (D399H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395624	NM_001278309.2(AKAP3):c.1174G>A (p.Glu392Lys)	AKAP3 (E392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105760	NM_001278309.2(AKAP3):c.1148A>G (p.Asn383Ser)	AKAP3 (N383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622614	NM_001278309.2(AKAP3):c.1084G>T (p.Val362Phe)	AKAP3 (V362F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206917	NM_001278309.2(AKAP3):c.1067C>T (p.Ser356Leu)	AKAP3 (S356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500166	NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)	AKAP3 (C15Y)	Single nucleotide variant (missense variant)	Spermatogenic failure 82	GPathogenic

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Items: 37