APBA2[gene] and "single gene"[properties] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2304992	NM_001353788.2(APBA2):c.32G>A (p.Ser11Asn)	APBA2 (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715862	NM_001353788.2(APBA2):c.33C>T (p.Ser11=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737685	NM_001353788.2(APBA2):c.34G>A (p.Gly12Ser)	APBA2 (G12S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2254579	NM_001353788.2(APBA2):c.105G>C (p.Glu35Asp)	APBA2 (E35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037758	NM_001353788.2(APBA2):c.155G>A (p.Arg52Gln)	APBA2 (R52Q)	Single nucleotide variant (missense variant)	APBA2-related disorder	GBenign
Select item 715589	NM_001353788.2(APBA2):c.164G>A (p.Ser55Asn)	APBA2 (S55N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3036076	NM_001353788.2(APBA2):c.170C>T (p.Ala57Val)	APBA2 (A57V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2484727	NM_001353788.2(APBA2):c.176A>G (p.Glu59Gly)	APBA2 (E59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051142	NM_001353788.2(APBA2):c.219C>T (p.Ser73=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 1686445	NM_001353788.2(APBA2):c.229G>A (p.Val77Met)	APBA2 (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790686	NM_001353788.2(APBA2):c.261C>T (p.Asp87=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3301542	NM_001353788.2(APBA2):c.289A>G (p.Ile97Val)	APBA2 (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037368	NM_001353788.2(APBA2):c.300C>T (p.Tyr100=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790687	NM_001353788.2(APBA2):c.303C>T (p.Ile101=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 793571	NM_001353788.2(APBA2):c.351C>T (p.Asn117=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301533	NM_001353788.2(APBA2):c.352G>C (p.Gly118Arg)	APBA2 (G118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746457	NM_001353788.2(APBA2):c.357G>A (p.Glu119=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770621	NM_001353788.2(APBA2):c.381C>T (p.His127=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046633	NM_001353788.2(APBA2):c.426G>A (p.Thr142=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 776868	NM_001353788.2(APBA2):c.431C>T (p.Ser144Leu)	APBA2 (S144L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251704	NM_001353788.2(APBA2):c.436G>A (p.Gly146Ser)	APBA2 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363622	NM_001353788.2(APBA2):c.440C>T (p.Pro147Leu)	APBA2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127639	NM_001353788.2(APBA2):c.442C>T (p.His148Tyr)	APBA2 (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473744	NM_001353788.2(APBA2):c.445C>T (p.Pro149Ser)	APBA2 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040331	NM_001353788.2(APBA2):c.486C>T (p.Asp162=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 708176	NM_001353788.2(APBA2):c.503C>T (p.Pro168Leu)	APBA2 (P168L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787114	NM_001353788.2(APBA2):c.519C>T (p.Ser173=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479571	NM_001353788.2(APBA2):c.616G>T (p.Gly206Cys)	APBA2 (G206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234651	NM_001353788.2(APBA2):c.617G>A (p.Gly206Asp)	APBA2 (G206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735379	NM_001353788.2(APBA2):c.618C>T (p.Gly206=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268399	NM_001353788.2(APBA2):c.628T>G (p.Tyr210Asp)	APBA2 (Y210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253945	NM_001353788.2(APBA2):c.631C>T (p.Arg211Cys)	APBA2 (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613891	NM_001353788.2(APBA2):c.673G>A (p.Asp225Asn)	APBA2 (D225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267838	NM_001353788.2(APBA2):c.676A>G (p.Ile226Val)	APBA2 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045439	NM_001353788.2(APBA2):c.687C>T (p.Ile229=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3040428	NM_001353788.2(APBA2):c.732C>T (p.Ser244=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3127640	NM_001353788.2(APBA2):c.733G>A (p.Ala245Thr)	APBA2 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607744	NM_001353788.2(APBA2):c.733G>T (p.Ala245Ser)	APBA2 (A245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127641	NM_001353788.2(APBA2):c.763G>C (p.Glu255Gln)	APBA2 (E255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392397	NM_001353788.2(APBA2):c.832G>A (p.Glu278Lys)	APBA2 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127642	NM_001353788.2(APBA2):c.838A>G (p.Arg280Gly)	APBA2 (R280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301493	NM_001353788.2(APBA2):c.848C>T (p.Ser283Leu)	APBA2 (S283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051260	NM_001353788.2(APBA2):c.864C>T (p.Pro288=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3055982	NM_001353788.2(APBA2):c.952-3825C>T	APBA2	Single nucleotide variant (synonymous variant +1 more)	APBA2-related disorder	GLikely benign
Select item 3301522	NM_001353788.2(APBA2):c.1000A>G (p.Asn334Asp)	APBA2 (N334D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301485	NM_001353788.2(APBA2):c.1009G>A (p.Val337Ile)	APBA2 (V41I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208415	NM_001353788.2(APBA2):c.1021A>T (p.Asn341Tyr)	APBA2 (N45Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731056	NM_001353788.2(APBA2):c.1044G>A (p.Val348=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3047710	NM_001353788.2(APBA2):c.1070-9C>T	APBA2	Single nucleotide variant (intron variant)	APBA2-related disorder	GLikely benign
Select item 746844	NM_001353788.2(APBA2):c.1077G>A (p.Gly359=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127633	NM_001353788.2(APBA2):c.1083C>G (p.Cys361Trp)	APBA2 (C361W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223680	NM_001353788.2(APBA2):c.1126T>C (p.Tyr376His)	APBA2 (Y80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288142	NM_001353788.2(APBA2):c.1162C>G (p.Pro388Ala)	APBA2 (P92A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052642	NM_001353788.2(APBA2):c.1206C>T (p.Ser402=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 781835	NM_001353788.2(APBA2):c.1216-9T>C	APBA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052721	NM_001353788.2(APBA2):c.1224A>G (p.Gln408=)	APBA2	Single nucleotide variant (synonymous variant +1 more)	APBA2-related disorder	GLikely benign
Select item 3127634	NM_001353788.2(APBA2):c.1240A>C (p.Lys414Gln)	APBA2 (K118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127635	NM_001353788.2(APBA2):c.1250C>T (p.Ala417Val)	APBA2 (A121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406715	NM_001353788.2(APBA2):c.1280C>T (p.Thr427Met)	APBA2 (T119M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127636	NM_001353788.2(APBA2):c.1417C>A (p.Arg473Ser)	APBA2 (R165S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747928	NM_001353788.2(APBA2):c.1525-8C>G	APBA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781836	NM_001353788.2(APBA2):c.1536C>T (p.Ile512=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 493155	NM_001353788.2(APBA2):c.1592A>G (p.Asn531Ser)	APBA2 (N223S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745150	NM_001353788.2(APBA2):c.1662C>T (p.Asn554=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790688	NM_001353788.2(APBA2):c.1705-9C>T	APBA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2230020	NM_001353788.2(APBA2):c.1734C>G (p.Ile578Met)	APBA2 (I566M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787640	NM_001353788.2(APBA2):c.1788C>T (p.Ile596=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301512	NM_001353788.2(APBA2):c.1796A>G (p.Asn599Ser)	APBA2 (N303S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127637	NM_001353788.2(APBA2):c.1808G>C (p.Gly603Ala)	APBA2 (G603A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056994	NM_001353788.2(APBA2):c.1809C>T (p.Gly603=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GBenign
Select item 434250	NM_001353788.2(APBA2):c.1815G>A (p.Pro605=)	APBA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2688584	NM_001353788.2(APBA2):c.1826C>T (p.Ser609Leu)	APBA2 (S301L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744317	NM_001353788.2(APBA2):c.1827G>A (p.Ser609=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127638	NM_001353788.2(APBA2):c.1832A>G (p.Lys611Arg)	APBA2 (K315R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045230	NM_001353788.2(APBA2):c.1842C>T (p.Ile614=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 786259	NM_001353788.2(APBA2):c.1885C>T (p.Leu629=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040556	NM_001353788.2(APBA2):c.1968G>A (p.Pro656=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3301504	NM_001353788.2(APBA2):c.2036T>C (p.Ile679Thr)	APBA2 (I679T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228972	NM_001353788.2(APBA2):c.2080G>A (p.Val694Ile)	APBA2 (V398I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731027	NM_001353788.2(APBA2):c.2091C>T (p.Gly697=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049085	NM_001353788.2(APBA2):c.2112C>T (p.Asn704=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 2320419	NM_001353788.2(APBA2):c.2135C>T (p.Ala712Val)	APBA2 (A700V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301551	NM_001353788.2(APBA2):c.2137C>A (p.His713Asn)	APBA2 (H405N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234767	NM_001353788.2(APBA2):c.2140G>A (p.Glu714Lys)	APBA2 (E702K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035360	NM_001353788.2(APBA2):c.2165A>G (p.Asn722Ser)	APBA2 (N414S +3 more)	Single nucleotide variant (missense variant)	APBA2-related disorder	GLikely benign
Select item 2406088	NM_001353788.2(APBA2):c.2168C>T (p.Ser723Leu)	APBA2 (S711L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797696	NM_001353788.2(APBA2):c.2169G>A (p.Ser723=)	APBA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484807	NM_001353788.2(APBA2):c.2207T>C (p.Met736Thr)	APBA2 (M428T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046555	NM_001353788.2(APBA2):c.2223G>A (p.Thr741=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3043642	NM_001353788.2(APBA2):c.*7C>T	APBA2	Single nucleotide variant (3 prime UTR variant)	APBA2-related disorder	GLikely benign

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Items: 90