"SETBP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1598698	NM_015559.3(SETBP1):c.85G>A (p.Ala29Thr)	SETBP1 (A29T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1600376	NM_015559.3(SETBP1):c.161G>A (p.Arg54His)	SETBP1 (R54H)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 2064177	NM_015559.3(SETBP1):c.264G>A (p.Glu88=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1503838	NM_015559.3(SETBP1):c.507_521del (p.Ala170_Leu174del)	SETBP1	Deletion (inframe_deletion)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 3061636	NM_015559.3(SETBP1):c.540+7371C>T	SETBP1	Single nucleotide variant (synonymous variant +1 more)	SETBP1-related disorder	GLikely benign
Select item 3048082	NM_015559.3(SETBP1):c.540+7417TC[5]	SETBP1 (T228fs)	Microsatellite (frameshift variant +1 more)	SETBP1-related disorder	GLikely pathogenic
Select item 2634899	NM_015559.3(SETBP1):c.540+7443A>C	SETBP1 (E234D)	Single nucleotide variant (missense variant +1 more)	SETBP1-related disorder	GUncertain significance
Select item 3032165	NM_015559.3(SETBP1):c.540+7475G>A	SETBP1	Single nucleotide variant (3 prime UTR variant +1 more)	SETBP1-related disorder	GLikely benign
Select item 1546981	NM_015559.3(SETBP1):c.541-10C>T	SETBP1	Single nucleotide variant (intron variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 1443596	NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg)	SETBP1 (Q186R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1237167	NM_015559.3(SETBP1):c.575A>G (p.His192Arg)	SETBP1 (H192R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1256654	NM_015559.3(SETBP1):c.607G>A (p.Gly203Ser)	SETBP1 (G203S)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 2631466	NM_015559.3(SETBP1):c.614C>A (p.Thr205Asn)	SETBP1 (T205N)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 326726	NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg)	SETBP1 (G229R)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 326729	NM_015559.3(SETBP1):c.839A>G (p.Asn280Ser)	SETBP1 (N280S)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 1284988	NM_015559.3(SETBP1):c.927C>T (p.Asn309=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 326732	NM_015559.3(SETBP1):c.969G>A (p.Lys323=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1659243	NM_015559.3(SETBP1):c.987T>C (p.Pro329=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3054627	NM_015559.3(SETBP1):c.1089C>T (p.Asp363=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 1579051	NM_015559.3(SETBP1):c.1150A>G (p.Arg384Gly)	SETBP1 (R384G)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 2058782	NM_015559.3(SETBP1):c.1153C>G (p.Gln385Glu)	SETBP1 (Q385E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 326736	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +2 more	GBenign/Likely benign
Select item 159867	NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)	SETBP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1441906	NM_015559.3(SETBP1):c.1228T>C (p.Ser410Pro)	SETBP1 (S410P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3032830	NM_015559.3(SETBP1):c.1284G>A (p.Val428=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 2635425	NM_015559.3(SETBP1):c.1466T>C (p.Val489Ala)	SETBP1 (V489A)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +4 more	GBenign/Likely benign
Select item 2429955	NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)	SETBP1 (R530*)	Single nucleotide variant (nonsense)	SETBP1-related disorder +1 more	GPathogenic
Select item 704065	NM_015559.3(SETBP1):c.1734T>C (p.Thr578=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 1636970	NM_015559.3(SETBP1):c.1828G>A (p.Val610Ile)	SETBP1 (V610I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 703090	NM_015559.3(SETBP1):c.1880G>A (p.Arg627His)	SETBP1 (R627H)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 1476069	NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)	SETBP1 (P637L)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2630876	NM_015559.3(SETBP1):c.2087del (p.Pro696fs)	SETBP1 (P696fs)	Deletion (frameshift variant)	SETBP1-related disorder	GPathogenic
Select item 870743	NM_015559.3(SETBP1):c.2267C>T (p.Pro756Leu)	SETBP1 (P756L)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 2629818	NM_015559.3(SETBP1):c.2493A>C (p.Pro831=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GUncertain significance
Select item 707724	NM_015559.3(SETBP1):c.2571C>T (p.Ser857=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 1032	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	SETBP1 (D868N)	Single nucleotide variant (missense variant)	SETBP1-related disorder +3 more	GPathogenic
Select item 2633425	NM_015559.3(SETBP1):c.2606G>A (p.Ser869Asn)	SETBP1 (S869N)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GPathogenic
Select item 1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1 (G870S)	Single nucleotide variant (missense variant)	SETBP1-related disorder +2 more	GPathogenic
Select item 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	SETBP1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1201100	NM_015559.3(SETBP1):c.2706G>A (p.Pro902=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1342547	NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)	SETBP1 (R914Q)	Single nucleotide variant (missense variant)	SETBP1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1566839	NM_015559.3(SETBP1):c.2874G>A (p.Glu958=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 1630213	NM_015559.3(SETBP1):c.3009G>A (p.Pro1003=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 326750	NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 1447369	NM_015559.3(SETBP1):c.3313G>A (p.Gly1105Ser)	SETBP1 (G1105S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1600746	NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)	SETBP1 (Q1244R)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2197158	NM_015559.3(SETBP1):c.3763C>T (p.Pro1255Ser)	SETBP1 (P1255S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448301	NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala)	SETBP1 (S1264A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3036383	NM_015559.3(SETBP1):c.3795C>A (p.Gly1265=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 1326040	NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser)	SETBP1 (G1270S)	Single nucleotide variant (missense variant)	SETBP1-related disorder +1 more	GBenign/Likely benign
Select item 2634823	NM_015559.3(SETBP1):c.3830A>G (p.Asn1277Ser)	SETBP1 (N1277S)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 2630602	NM_015559.3(SETBP1):c.3852G>T (p.Met1284Ile)	SETBP1 (M1284I)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 1212405	NM_015559.3(SETBP1):c.3882C>T (p.Asp1294=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633849	NM_015559.3(SETBP1):c.4081A>G (p.Arg1361Gly)	SETBP1 (R1361G)	Single nucleotide variant (missense variant +1 more)	SETBP1-related disorder	GUncertain significance
Select item 159878	NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)	SETBP1 (V1377L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 701922	NM_015559.3(SETBP1):c.4131G>A (p.Val1377=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +2 more	GBenign
Select item 803487	NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)	SETBP1 (R1401Q)	Single nucleotide variant (missense variant)	SETBP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 326762	NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +2 more	GBenign/Likely benign
Select item 1370931	NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)	SETBP1 (A1436V)	Single nucleotide variant (missense variant)	SETBP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636032	NM_015559.3(SETBP1):c.4360C>A (p.Arg1454Ser)	SETBP1 (R1397S +1 more)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 1233679	NM_015559.3(SETBP1):c.4368T>C (p.Arg1456=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1429121	NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His)	SETBP1 (Q1463H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1548263	NM_015559.3(SETBP1):c.4464G>A (p.Lys1488=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 1536102	NM_015559.3(SETBP1):c.4497C>T (p.Ala1499=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1300474	NM_015559.3(SETBP1):c.4566G>A (p.Leu1522=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +1 more	GLikely benign
Select item 3056182	NM_015559.3(SETBP1):c.4572G>C (p.Pro1524=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GBenign
Select item 2633403	NM_015559.3(SETBP1):c.4584_4607dup (p.Pro1543_Leu1544insProProLeuProProProProPro)	SETBP1	Duplication (inframe_insertion)	SETBP1-related disorder	GUncertain significance
Select item 3037266	NM_015559.3(SETBP1):c.4593G>C (p.Pro1531=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 3037149	NM_015559.3(SETBP1):c.4596A>C (p.Pro1532=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 3037687	NM_015559.3(SETBP1):c.4599G>C (p.Pro1533=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 3037962	NM_015559.3(SETBP1):c.4602G>C (p.Pro1534=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 3037672	NM_015559.3(SETBP1):c.4605A>C (p.Pro1535=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 3037403	NM_015559.3(SETBP1):c.4608A>C (p.Pro1536=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder	GLikely benign
Select item 2629674	NM_015559.3(SETBP1):c.4703C>A (p.Pro1568His)	SETBP1 (P1511H +1 more)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 2628405	NM_015559.3(SETBP1):c.4766G>A (p.Gly1589Glu)	SETBP1 (G1532E +1 more)	Single nucleotide variant (missense variant)	SETBP1-related disorder	GUncertain significance
Select item 3040815	NM_015559.3(SETBP1):c.*4G>A	SETBP1	Single nucleotide variant (3 prime UTR variant)	SETBP1-related disorder	GLikely benign

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Items: 78