ClinVar for MedGen (Select 120517) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 81

	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 +1 more	GPathogenic/Likely pathogenic
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 1802629	NM_015559.3(SETBP1):c.2984C>T (p.Pro995Leu)	SETBP1 (P995L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1694871	NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1397425	NM_015559.3(SETBP1):c.1051G>T (p.Asp351Tyr)	SETBP1 (D351Y)	Single nucleotide variant (missense variant)	not provided	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)	Schinzel-Giedion syndrome +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)	not provided +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)	Intellectual disability, autosomal dominant 29 +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 +3 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 disorder +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)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 620410	NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)	SETBP1 (R589*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 548526	NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	SETBP1 (W222S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 546818	NM_015559.3(SETBP1):c.2934C>T (p.His978=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 521296	NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	SETBP1 (E858K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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)	not provided +1 more	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)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 326754	NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +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)	Schinzel-Giedion syndrome +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)	Schinzel-Giedion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 29 +3 more	GBenign/Likely benign
Select item 326736	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 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 +1 more	GBenign/Likely benign
Select item 326725	NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT	SETBP1 (T228fs)	Insertion (frameshift variant +1 more)	not specified +2 more	GBenign
Select item 326724	NM_015559.3(SETBP1):c.141G>A (p.Gly47=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 326718	NM_015559.3(SETBP1):c.-241dup	SETBP1	Duplication (5 prime UTR variant +1 more)	Schinzel-Giedion syndrome +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)	not specified +2 more	GBenign/Likely benign
Select item 159883	NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	SETBP1 (E16K)	Single nucleotide variant (missense variant)	not provided +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 provided +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)	not provided +2 more	GBenign/Likely benign
Select item 159878	NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)	SETBP1 (V1377L)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign
Select item 159877	NM_015559.3(SETBP1):c.4000+10T>A	SETBP1	Single nucleotide variant (intron variant)	not provided +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)	Schinzel-Giedion syndrome +2 more	GBenign
Select item 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	Schinzel-Giedion syndrome +2 more	GPathogenic
Select item 157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1 (R625*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1 (G870S)	Single nucleotide variant (missense variant)	not provided +2 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)	Schinzel-Giedion syndrome +3 more	GPathogenic
Select item 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 81