DISP3[gene] - ClinVar - NCBI

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	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 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 3052562	NM_020780.2(DISP3):c.8C>T (p.Thr3Met)	DISP3 (T3M)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3060426	NM_020780.2(DISP3):c.115G>A (p.Gly39Arg)	DISP3 (G39R)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 2344613	NM_020780.2(DISP3):c.121G>A (p.Gly41Arg)	DISP3 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721203	NM_020780.2(DISP3):c.151C>G (p.Leu51Val)	DISP3 (L51V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3040615	NM_020780.2(DISP3):c.208A>G (p.Asn70Asp)	DISP3 (N70D)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3037937	NM_020780.2(DISP3):c.497G>A (p.Arg166Gln)	DISP3 (R166Q)	Single nucleotide variant (missense variant)	DISP3-related disorder	GLikely benign
Select item 3060301	NM_020780.2(DISP3):c.544G>A (p.Gly182Ser)	DISP3 (G182S)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3034771	NM_020780.2(DISP3):c.551G>T (p.Gly184Val)	DISP3 (G184V)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3045877	NM_020780.2(DISP3):c.585C>T (p.Pro195=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 2351481	NM_020780.2(DISP3):c.633G>T (p.Glu211Asp)	DISP3 (E211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725514	NM_020780.2(DISP3):c.643G>T (p.Ala215Ser)	DISP3 (A215S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3033218	NM_020780.2(DISP3):c.714C>T (p.Pro238=)	DISP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050021	NM_020780.2(DISP3):c.882C>T (p.Arg294=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3058907	NM_020780.2(DISP3):c.888C>T (p.Val296=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 3060865	NM_020780.2(DISP3):c.1275C>T (p.Phe425=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 3049902	NM_020780.2(DISP3):c.1596C>T (p.Asp532=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 782971	NM_020780.2(DISP3):c.1625G>A (p.Arg542His)	DISP3 (R542H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3039428	NM_020780.2(DISP3):c.1698C>T (p.Phe566=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 775509	NM_020780.2(DISP3):c.1737C>T (p.Asn579=)	DISP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050109	NM_020780.2(DISP3):c.1749+5G>A	DISP3	Single nucleotide variant (intron variant)	DISP3-related disorder	GLikely benign
Select item 2688939	NM_020780.2(DISP3):c.1854_1855del (p.Tyr619fs)	DISP3 (Y619fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3060671	NM_020780.2(DISP3):c.1948G>A (p.Ala650Thr)	DISP3 (A650T)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3059525	NM_020780.2(DISP3):c.1982G>C (p.Gly661Ala)	DISP3 (G661A)	Single nucleotide variant (missense variant)	DISP3-related disorder	GBenign
Select item 3034633	NM_020780.2(DISP3):c.1986C>T (p.Pro662=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3057220	NM_020780.2(DISP3):c.2058C>T (p.Asp686=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3037440	NM_020780.2(DISP3):c.2121C>T (p.Gly707=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 775510	NM_020780.2(DISP3):c.2473C>G (p.Gln825Glu)	DISP3 (Q825E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767651	NM_020780.2(DISP3):c.2477-4G>A	DISP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2409696	NM_020780.2(DISP3):c.2566C>T (p.Pro856Ser)	DISP3 (P856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057940	NM_020780.2(DISP3):c.2583G>A (p.Ser861=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 2233042	NM_020780.2(DISP3):c.2662A>G (p.Met888Val)	DISP3 (M888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239604	NM_020780.2(DISP3):c.2678T>C (p.Leu893Pro)	DISP3 (L893P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038666	NM_020780.2(DISP3):c.2740C>A (p.Arg914=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3033998	NM_020780.2(DISP3):c.2958C>T (p.Phe986=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 3059972	NM_020780.2(DISP3):c.2997G>A (p.Pro999=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 3052357	NM_020780.2(DISP3):c.3000G>A (p.Ala1000=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3057689	NM_020780.2(DISP3):c.3065G>A (p.Arg1022His)	DISP3 (R1022H)	Single nucleotide variant (missense variant)	DISP3-related disorder	GLikely benign
Select item 2412433	NM_020780.2(DISP3):c.3071G>A (p.Arg1024Gln)	DISP3 (R1024Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279265	NM_020780.2(DISP3):c.3121A>G (p.Ser1041Gly)	DISP3 (S1041G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348326	NM_020780.2(DISP3):c.3190G>A (p.Glu1064Lys)	DISP3 (E1064K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045526	NM_020780.2(DISP3):c.3230-4G>A	DISP3	Single nucleotide variant (intron variant)	DISP3-related disorder	GLikely benign
Select item 3038718	NM_020780.2(DISP3):c.3501C>T (p.Cys1167=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3039138	NM_020780.2(DISP3):c.3531C>T (p.Ile1177=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3034088	NM_020780.2(DISP3):c.3555C>T (p.Cys1185=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 782972	NM_020780.2(DISP3):c.3649+4C>T	DISP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775511	NM_020780.2(DISP3):c.3687C>T (p.Ser1229=)	DISP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060452	NM_020780.2(DISP3):c.3891C>T (p.Ala1297=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 3050152	NM_020780.2(DISP3):c.3936C>T (p.Ile1312=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3051802	NM_020780.2(DISP3):c.4065C>T (p.Ser1355=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GBenign
Select item 2321353	NM_020780.2(DISP3):c.4069C>T (p.Leu1357Phe)	DISP3 (L1357F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057428	NM_020780.2(DISP3):c.4161C>T (p.Pro1387=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807924	GRCh37/hg19 1p36.22(chr1:11296487-11676100)x3	DISP3, MTOR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980394	GRCh37/hg19 1p36.22(chr1:11376212-11680685)x3	DISP3	Copy number gain	not provided	GUncertain significance
Select item 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	AGTRAP, ANGPTL7 +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance
Select item 814056	GRCh37/hg19 1p36.22(chr1:11419867-11676100)x3	DISP3	Copy number gain	not provided	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
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 565075	GRCh37/hg19 1p36.22(chr1:11278175-11691473)x3	DISP3, MTOR +1 more	Copy number gain	not provided	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
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 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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