DISP3[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 980394	GRCh37/hg19 1p36.22(chr1:11376212-11680685)x3	DISP3	Copy number gain	not provided	GUncertain significance
Select item 814056	GRCh37/hg19 1p36.22(chr1:11419867-11676100)x3	DISP3	Copy number gain	not provided	GUncertain significance

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Items: 53