54828[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 993267	NM_017679.5(BCAS3):c.73C>T (p.Gln25Ter)	BCAS3 (Q25*)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3133336	NM_017679.5(BCAS3):c.97A>G (p.Met33Val)	BCAS3 (M33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260602	NM_017679.5(BCAS3):c.169A>G (p.Lys57Glu)	BCAS3 (K57E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133323	NM_017679.5(BCAS3):c.178A>G (p.Ile60Val)	BCAS3 (I60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267365	NM_017679.5(BCAS3):c.188T>C (p.Val63Ala)	BCAS3 (V63A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048567	NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter)	BCAS3 (Q113*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 3133333	NM_017679.5(BCAS3):c.358C>T (p.His120Tyr)	BCAS3 (H120Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297504	NM_017679.5(BCAS3):c.359A>C (p.His120Pro)	BCAS3 (H120P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260603	NM_017679.5(BCAS3):c.374C>T (p.Ala125Val)	BCAS3 (A125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2664164	NM_017679.5(BCAS3):c.386T>A (p.Leu129Ter)	BCAS3 (L129*)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome	GLikely pathogenic
Select item 3133334	NM_017679.5(BCAS3):c.406G>C (p.Ala136Pro)	BCAS3 (A136P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993274	NM_017679.5(BCAS3):c.530del (p.Met177fs)	BCAS3 (M177fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 1048568	NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter)	BCAS3 (C192*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 2401090	NM_017679.5(BCAS3):c.583C>T (p.Arg195Trp)	BCAS3 (R195W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364294	NM_017679.5(BCAS3):c.592G>T (p.Val198Phe)	BCAS3 (V198F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272244	NM_017679.5(BCAS3):c.668A>G (p.Tyr223Cys)	BCAS3 (Y223C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610707	NM_017679.5(BCAS3):c.697A>G (p.Ile233Val)	BCAS3 (I233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371628	NM_017679.5(BCAS3):c.712C>T (p.Arg238Cys)	BCAS3 (R238C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993268	NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)	BCAS3 (Y242*)	Single nucleotide variant (nonsense)	Global developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 2275297	NM_017679.5(BCAS3):c.761G>A (p.Arg254His)	BCAS3 (R254H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530234	NM_017679.5(BCAS3):c.890G>A (p.Gly297Asp)	BCAS3 (G297D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291740	NM_017679.5(BCAS3):c.904G>A (p.Asp302Asn)	BCAS3 (D302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322267	NM_017679.5(BCAS3):c.905A>C (p.Asp302Ala)	BCAS3 (D302A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461479	NM_017679.5(BCAS3):c.911C>T (p.Ala304Val)	BCAS3 (A304V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133335	NM_017679.5(BCAS3):c.920G>A (p.Ser307Asn)	BCAS3 (S307N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289689	NM_017679.5(BCAS3):c.931C>T (p.Arg311Trp)	BCAS3 (R311W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993275	NC_000017.11:g.60921178_61232194del	BCAS3, BCAS3-AS1	Deletion	Global developmental delay	GLikely pathogenic
Select item 3133313	NM_017679.5(BCAS3):c.1011T>G (p.Asp337Glu)	BCAS3 (D337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133314	NM_017679.5(BCAS3):c.1045G>C (p.Ala349Pro)	BCAS3 (A349P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136284	NM_017679.5(BCAS3):c.1046C>T (p.Ala349Val)	BCAS3 (A349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2284173	NM_017679.5(BCAS3):c.1081A>T (p.Thr361Ser)	BCAS3 (T361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133315	NM_017679.5(BCAS3):c.1082C>T (p.Thr361Ile)	BCAS3 (T361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993273	NM_017679.5(BCAS3):c.1133del (p.Val378fs)	BCAS3 (V378fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 3133316	NM_017679.5(BCAS3):c.1157G>T (p.Trp386Leu)	BCAS3 (W386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133317	NM_017679.5(BCAS3):c.1349G>A (p.Arg450Gln)	BCAS3 (R450Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464191	NM_017679.5(BCAS3):c.1361G>T (p.Arg454Leu)	BCAS3 (R454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377098	NM_017679.5(BCAS3):c.1370G>A (p.Arg457His)	BCAS3 (R457H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647995	NM_017679.5(BCAS3):c.1416G>A (p.Thr472=)	BCAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 993269	NM_017679.5(BCAS3):c.1457C>G (p.Ser486Ter)	BCAS3 (S486*)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2368683	NM_017679.5(BCAS3):c.1517A>G (p.Asn506Ser)	BCAS3 (N506S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133319	NM_017679.5(BCAS3):c.1526A>G (p.Asn509Ser)	BCAS3 (N509S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133320	NM_017679.5(BCAS3):c.1547G>A (p.Arg516Gln)	BCAS3 (R516Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270139	NM_017679.5(BCAS3):c.1570A>G (p.Met524Val)	BCAS3 (M524V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630415	NM_017679.5(BCAS3):c.1572G>A (p.Met524Ile)	BCAS3 (M524I +1 more)	Single nucleotide variant (missense variant)	BCAS3-related disorder	GUncertain significance
Select item 2467132	NM_017679.5(BCAS3):c.1606A>G (p.Met536Val)	BCAS3 (M536V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136285	NM_017679.5(BCAS3):c.1638-7765A>G	BCAS3 (K558R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3133321	NM_017679.5(BCAS3):c.1654C>T (p.Pro552Ser)	BCAS3, BCAS3-AS1 (P567S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 993270	NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)	BCAS3, BCAS3-AS1 (P552L +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993271	NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)	BCAS3, BCAS3-AS1 (G562R +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2647996	NM_017679.5(BCAS3):c.1720A>C (p.Arg574=)	BCAS3, BCAS3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2318948	NM_017679.5(BCAS3):c.1720A>G (p.Arg574Gly)	BCAS3, BCAS3-AS1 (R589G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133322	NM_017679.5(BCAS3):c.1741G>T (p.Ala581Ser)	BCAS3, BCAS3-AS1 (A611S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515581	NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)	BCAS3, BCAS3-AS1 (I600V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256229	NM_017679.5(BCAS3):c.1826A>G (p.Glu609Gly)	BCAS3, BCAS3-AS1 (E609G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555722	NM_017679.5(BCAS3):c.1880C>G (p.Thr627Arg)	BCAS3, BCAS3-AS1 (T627R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133325	NM_017679.5(BCAS3):c.1895T>C (p.Met632Thr)	BCAS3, BCAS3-AS1 (M632T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687612	NM_017679.5(BCAS3):c.1906C>T (p.Arg636Ter)	BCAS3, BCAS3-AS1 (R636* +3 more)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome	GPathogenic
Select item 2273124	NM_017679.5(BCAS3):c.1907G>T (p.Arg636Leu)	BCAS3, BCAS3-AS1 (R636L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286361	NM_017679.5(BCAS3):c.1924G>A (p.Val642Ile)	BCAS3, BCAS3-AS1 (V687I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323968	NM_017679.5(BCAS3):c.1994A>G (p.Asp665Gly)	BCAS3, BCAS3-AS1 (D665G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993276	NM_017679.5(BCAS3):c.2029+4_2029+7del	BCAS3, BCAS3-AS1	Deletion (splice donor variant)	Global developmental delay	GLikely pathogenic
Select item 2634405	NM_017679.5(BCAS3):c.2077G>A (p.Asp693Asn)	BCAS3, BCAS3-AS1 (D693N +3 more)	Single nucleotide variant (missense variant)	BCAS3-related disorder	GUncertain significance
Select item 3133326	NM_017679.5(BCAS3):c.2155C>A (p.Pro719Thr)	BCAS3, BCAS3-AS1 (P719T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518117	NM_017679.5(BCAS3):c.2165G>A (p.Arg722His)	BCAS3, BCAS3-AS1 (R722H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 993272	NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)	BCAS3, BCAS3-AS1 (Q728* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 2246576	NM_017679.5(BCAS3):c.2191T>A (p.Phe731Ile)	BCAS3, BCAS3-AS1 (F761I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133327	NM_017679.5(BCAS3):c.2224G>A (p.Val742Ile)	BCAS3, BCAS3-AS1 (V772I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296628	NM_017679.5(BCAS3):c.2261G>A (p.Gly754Asp)	BCAS3, BCAS3-AS1 (G754D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149354	NM_017679.5(BCAS3):c.2264C>T (p.Pro755Leu)	BCAS3, BCAS3-AS1 (P800L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376344	NM_017679.5(BCAS3):c.2273C>T (p.Thr758Met)	BCAS3, BCAS3-AS1 (T788M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623284	NM_017679.5(BCAS3):c.2386G>C (p.Asp796His)	BCAS3, BCAS3-AS1 (D811H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133328	NM_017679.5(BCAS3):c.2420C>T (p.Ala807Val)	BCAS3, BCAS3-AS1 (A807V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256232	NM_017679.5(BCAS3):c.2425G>T (p.Gly809Cys)	BCAS3, BCAS3-AS1 (G809C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 993277	NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)	BCAS3, BCAS3-AS1 (G809R +3 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 152307	GRCh38/hg38 17q23.2(chr17:61331901-61424019)x3	BCAS3, LINC02875 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2372939	NM_017679.5(BCAS3):c.2443G>A (p.Val815Met)	BCAS3 (V845M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133329	NM_017679.5(BCAS3):c.2485G>A (p.Gly829Arg)	BCAS3 (G829R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133330	NM_017679.5(BCAS3):c.2530C>T (p.Arg844Trp)	BCAS3 (R874W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285532	NM_017679.5(BCAS3):c.2531G>A (p.Arg844Gln)	BCAS3 (R874Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260605	NM_017679.5(BCAS3):c.2543C>T (p.Ala848Val)	BCAS3 (A848V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344221	NM_017679.5(BCAS3):c.2587G>A (p.Gly863Arg)	BCAS3 (G863R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516472	NM_017679.5(BCAS3):c.2658A>G (p.Ile886Met)	BCAS3 (I886M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620996	NM_017679.5(BCAS3):c.2703G>C (p.Glu901Asp)	BCAS3 (E901D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343285	NM_017679.5(BCAS3):c.2726C>G (p.Pro909Arg)	BCAS3 (P924R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369763	NM_017679.5(BCAS3):c.2729C>T (p.Thr910Ile)	BCAS3 (T940I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133332	NM_017679.5(BCAS3):c.2738C>T (p.Pro913Leu)	BCAS3 (P913L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3063525	GRCh37/hg19 17q23.2(chr17:58950630-59136066)x1	BCAS3	Copy number loss	not specified	GUncertain significance
Select item 3063520	GRCh37/hg19 17q23.2(chr17:58921973-58999000)x1	BCAS3	Copy number loss	not specified	GUncertain significance
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2424709	NC_000017.10:g.(?_58227396)_(59938900_?)del	APPBP2, BCAS3 +9 more	Deletion	not provided	GUncertain significance
Select item 2423351	NC_000017.10:g.(?_58227396)_(59938900_?)dup	APPBP2, BCAS3 +9 more	Duplication	not provided	GUncertain significance
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic

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