"DISP3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 34

	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 721203	NM_020780.2(DISP3):c.151C>G (p.Leu51Val)	DISP3 (L51V)	Single nucleotide variant (missense variant)	not provided +1 more	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 3033218	NM_020780.2(DISP3):c.714C>T (p.Pro238=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	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 3039428	NM_020780.2(DISP3):c.1698C>T (p.Phe566=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
Select item 3050109	NM_020780.2(DISP3):c.1749+5G>A	DISP3	Single nucleotide variant (intron variant)	DISP3-related disorder	GLikely benign
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 3057940	NM_020780.2(DISP3):c.2583G>A (p.Ser861=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign
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 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 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 3057428	NM_020780.2(DISP3):c.4161C>T (p.Pro1387=)	DISP3	Single nucleotide variant (synonymous variant)	DISP3-related disorder	GLikely benign

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Items: 34