ClinVar for MedGen (Select 120517) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692324	NM_015559.3(SETBP1):c.2825G>C (p.Arg942Pro)	SETBP1 (R942P)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 2582526	NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)	SETBP1 (D1423N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GUncertain significance
Select item 2573005	NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)	SETBP1 (S869R)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GPathogenic
Select item 2572532	NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)	SETBP1 (G653fs)	Duplication (frameshift variant)	Schinzel-Giedion syndrome	GLikely pathogenic
Select item 2073524	NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn)	SETBP1 (T605N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878636	NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)	SETBP1 (S867R)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1806083	NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)	SETBP1 (K1499Q +1 more)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 1696446	NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu)	SETBP1 (G271E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GUncertain significance
Select item 1339247	NM_015559.3(SETBP1):c.3022C>G (p.Arg1008Gly)	SETBP1 (R1008G)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GUncertain significance
Select item 1315372	NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)	SETBP1 (P855T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +2 more	GConflicting classifications of pathogenicity
Select item 1300875	NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn)	SETBP1 (T816N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294470	NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met)	SETBP1 (V1295M)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 1250265	NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu)	SETBP1 (P497L)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 1199493	NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)	SETBP1 (D353V)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1188405	NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)	SETBP1 (V688I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1184618	NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)	SETBP1 (Y994*)	Single nucleotide variant (nonsense)	Schinzel-Giedion syndrome	GLikely pathogenic
Select item 1184378	NM_015559.3(SETBP1):c.165G>A (p.Met55Ile)	SETBP1 (M55I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030515	NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys)	SETBP1 (S973C)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GUncertain significance
Select item 989326	NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr)	SETBP1 (S854Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 988755	NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)	SETBP1 (E472fs)	Deletion (frameshift variant)	Schinzel-Giedion syndrome +1 more	GLikely pathogenic
Select item 803487	NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)	SETBP1 (R1401Q)	Single nucleotide variant (missense variant)	SETBP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 803486	NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val)	SETBP1 (L1278V)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 803485	NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val)	SETBP1 (A704V)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GUncertain significance
Select item 706500	NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)	SETBP1 (R1321H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 620410	NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)	SETBP1 (R589*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 548526	NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	SETBP1 (W222S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +2 more	GConflicting classifications of pathogenicity
Select item 546818	NM_015559.3(SETBP1):c.2934C>T (p.His978=)	SETBP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 29 +2 more	GBenign/Likely benign
Select item 521296	NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	SETBP1 (E858K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 441093	NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)	SETBP1 (I871S)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GPathogenic
Select item 326821	NM_015559.3(SETBP1):c.*4753del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GBenign
Select item 326800	NM_015559.3(SETBP1):c.*3313A>C	SETBP1	Single nucleotide variant (3 prime UTR variant)	Schinzel-Giedion syndrome	GLikely benign
Select item 326797	NM_015559.3(SETBP1):c.*2988del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326795	NM_015559.3(SETBP1):c.*2987dup	SETBP1	Duplication (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326794	NM_015559.3(SETBP1):c.*2971del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326793	NM_015559.3(SETBP1):c.2970_2971insT	SETBP1	Insertion (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326780	NM_015559.3(SETBP1):c.2063_2066del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326778	NM_015559.3(SETBP1):c.1643_1647del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326774	NM_015559.3(SETBP1):c.*1377G>A	SETBP1	Single nucleotide variant (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326771	NM_015559.3(SETBP1):c.*1160del	SETBP1	Deletion (3 prime UTR variant)	Schinzel-Giedion syndrome	GLikely benign
Select item 326766	NM_015559.3(SETBP1):c.*745dup	SETBP1	Duplication (3 prime UTR variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 326761	NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 326754	NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 326753	NM_015559.3(SETBP1):c.3618T>C (p.His1206=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +3 more	GBenign/Likely benign
Select item 326752	NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 326747	NM_015559.3(SETBP1):c.2607C>T (p.Ser869=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 326746	NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +4 more	GBenign/Likely benign
Select item 326736	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related condition +2 more	GBenign/Likely benign
Select item 326734	NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile)	SETBP1 (T346I)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 326726	NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg)	SETBP1 (G229R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 326725	NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT	SETBP1 (T228fs)	Insertion (frameshift variant +1 more)	not provided +2 more	GBenign
Select item 326724	NM_015559.3(SETBP1):c.141G>A (p.Gly47=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 326718	NM_015559.3(SETBP1):c.-241dup	SETBP1	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212152	NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	SETBP1 (S608fs)	Deletion (frameshift variant)	Schinzel-Giedion syndrome	GPathogenic
Select item 159885	NM_015559.3(SETBP1):c.691G>C (p.Val231Leu)	SETBP1 (V231L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159884	NM_015559.3(SETBP1):c.540+7405G>A	SETBP1 (A222T)	Single nucleotide variant (missense variant +1 more)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 159883	NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	SETBP1 (E16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159881	NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)	SETBP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 159880	NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)	SETBP1 (E1466D)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 159878	NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)	SETBP1 (V1377L)	Single nucleotide variant (missense variant)	SETBP1-related condition +3 more	GBenign
Select item 159877	NM_015559.3(SETBP1):c.4000+10T>A	SETBP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159876	NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 159875	NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)	SETBP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 29 +3 more	GBenign
Select item 159874	NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome	GUncertain significance
Select item 159873	NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)	SETBP1 (P1130T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159872	NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile)	SETBP1 (V1101I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159871	NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	SETBP1 (D868H)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GPathogenic/Likely pathogenic
Select item 159870	NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	SETBP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 159869	NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159868	NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)	SETBP1 (A408G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159867	NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	SETBP1-related condition +3 more	GPathogenic
Select item 157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1 (R625*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29 +2 more	GPathogenic
Select item 1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1 (G870S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1034	NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)	SETBP1 (G870D)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GPathogenic
Select item 1033	NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)	SETBP1 (D868A)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome	GPathogenic
Select item 1032	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	SETBP1 (D868N)	Single nucleotide variant (missense variant)	SETBP1-related condition +3 more	GPathogenic
Select item 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	SETBP1-related condition +5 more	GConflicting classifications of pathogenicity

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Items: 78