ASAP3[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 713031	NM_017707.4(ASAP3):c.2636C>A (p.Pro879Gln)	ASAP3 (P870Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2408690	NM_017707.4(ASAP3):c.2581C>T (p.Arg861Trp)	ASAP3 (R852W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556567	NM_017707.4(ASAP3):c.2579C>T (p.Ala860Val)	ASAP3 (A860V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317108	NM_017707.4(ASAP3):c.2573G>A (p.Arg858Gln)	ASAP3 (R849Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222860	NM_017707.4(ASAP3):c.2569C>T (p.Arg857Trp)	ASAP3 (R857W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261175	NM_017707.4(ASAP3):c.2551G>A (p.Glu851Lys)	ASAP3 (E842K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359961	NM_017707.4(ASAP3):c.2536G>A (p.Val846Ile)	ASAP3 (V837I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214076	NM_017707.4(ASAP3):c.2536G>T (p.Val846Phe)	ASAP3 (V846F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130061	NM_017707.4(ASAP3):c.2485T>A (p.Ser829Thr)	ASAP3 (S820T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530233	NM_017707.4(ASAP3):c.2443C>T (p.Pro815Ser)	ASAP3 (P815S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410825	NM_017707.4(ASAP3):c.2326C>T (p.Arg776Cys)	ASAP3 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382700	NM_017707.4(ASAP3):c.2284C>T (p.Arg762Trp)	ASAP3 (R753W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390701	NM_017707.4(ASAP3):c.2281T>C (p.Ser761Pro)	ASAP3 (S761P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218643	NM_017707.4(ASAP3):c.2225C>T (p.Ala742Val)	ASAP3 (A733V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218642	NM_017707.4(ASAP3):c.2224G>T (p.Ala742Ser)	ASAP3 (A733S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638482	NM_017707.4(ASAP3):c.2150C>A (p.Ala717Asp)	ASAP3 (A708D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607997	NM_017707.4(ASAP3):c.2149G>A (p.Ala717Thr)	ASAP3 (A708T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638483	NM_017707.4(ASAP3):c.2148G>A (p.Pro716=)	ASAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382038	NM_017707.4(ASAP3):c.2128C>A (p.Arg710Ser)	ASAP3 (R701S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130059	NM_017707.4(ASAP3):c.2077G>A (p.Val693Ile)	ASAP3 (V684I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130058	NM_017707.4(ASAP3):c.2036C>T (p.Ala679Val)	ASAP3 (A670V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330254	NM_017707.4(ASAP3):c.2002A>G (p.Lys668Glu)	ASAP3 (K659E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130057	NM_017707.4(ASAP3):c.1910G>C (p.Cys637Ser)	ASAP3 (C637S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462503	NM_017707.4(ASAP3):c.1885G>A (p.Ala629Thr)	ASAP3 (A629T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525675	NM_017707.4(ASAP3):c.1727C>T (p.Pro576Leu)	ASAP3 (P567L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317140	NM_017707.4(ASAP3):c.1712A>G (p.Gln571Arg)	ASAP3 (Q571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309025	NM_017707.4(ASAP3):c.1657A>T (p.Thr553Ser)	ASAP3 (T544S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326335	NM_017707.4(ASAP3):c.1628G>A (p.Arg543Gln)	ASAP3 (R534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317129	NM_017707.4(ASAP3):c.1579C>T (p.Arg527Cys)	ASAP3 (R518C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638484	NM_017707.4(ASAP3):c.1458G>T (p.Leu486=)	ASAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130056	NM_017707.4(ASAP3):c.1388A>G (p.Gln463Arg)	ASAP3 (Q454R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791782	NM_017707.4(ASAP3):c.1130A>C (p.Glu377Ala)	ASAP3 (E368A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3317097	NM_017707.4(ASAP3):c.1090G>T (p.Asp364Tyr)	ASAP3 (D364Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130055	NM_017707.4(ASAP3):c.1013C>T (p.Thr338Met)	ASAP3 (T329M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130054	NM_017707.4(ASAP3):c.1009A>G (p.Ser337Gly)	ASAP3 (S328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489186	NM_017707.4(ASAP3):c.950G>A (p.Arg317Gln)	ASAP3 (R308Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711270	NM_017707.4(ASAP3):c.942C>T (p.Asp314=)	ASAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604097	NM_017707.4(ASAP3):c.920G>T (p.Gly307Val)	ASAP3 (G298V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605119	NM_017707.4(ASAP3):c.881A>G (p.Gln294Arg)	ASAP3 (Q294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206187	NM_017707.4(ASAP3):c.876C>G (p.Ile292Met)	ASAP3 (I292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130065	NM_017707.4(ASAP3):c.848G>A (p.Arg283Gln)	ASAP3 (R274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519915	NM_017707.4(ASAP3):c.838C>T (p.His280Tyr)	ASAP3 (H280Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130064	NM_017707.4(ASAP3):c.743A>G (p.His248Arg)	ASAP3 (H239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467968	NM_017707.4(ASAP3):c.731C>T (p.Ala244Val)	ASAP3 (A235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343414	NM_017707.4(ASAP3):c.654C>A (p.Phe218Leu)	ASAP3 (F209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351039	NM_017707.4(ASAP3):c.575A>C (p.His192Pro)	ASAP3 (H183P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541994	NM_017707.4(ASAP3):c.556C>T (p.Arg186Trp)	ASAP3 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367657	NM_017707.4(ASAP3):c.524C>G (p.Pro175Arg)	ASAP3 (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217341	NM_017707.4(ASAP3):c.494G>A (p.Arg165His)	ASAP3 (R156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130062	NM_017707.4(ASAP3):c.493C>T (p.Arg165Cys)	ASAP3 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784938	NM_017707.4(ASAP3):c.441G>C (p.Leu147=)	ASAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2354749	NM_017707.4(ASAP3):c.360G>C (p.Leu120Phe)	ASAP3 (L120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239918	NM_017707.4(ASAP3):c.319C>T (p.Arg107Cys)	ASAP3 (R107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623302	NM_017707.4(ASAP3):c.250G>A (p.Gly84Ser)	ASAP3 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130060	NM_017707.4(ASAP3):c.236C>T (p.Ala79Val)	ASAP3 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241790	NM_017707.4(ASAP3):c.175G>C (p.Val59Leu)	ASAP3 (V59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1808636	GRCh37/hg19 1p36.12-36.11(chr1:23680995-24224241)x3	ASAP3, CNR2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814065	GRCh37/hg19 1p36.12(chr1:23748632-23812814)x1	ASAP3, TCEA3	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66