Related gene-specific medical variations for Gene (Select 26040) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242810	NC_000018.9:g.(?_42281312)_(42533325_?)dup	SETBP1	Duplication	not provided	GUncertain significance
Select item 3242808	NC_000018.9:g.(?_42643024)_(42643663_?)dup	SETBP1	Duplication	not provided	GLikely benign
Select item 3242807	NC_000018.9:g.(?_42281312)_(42281817_?)dup	SETBP1	Duplication	not provided	GUncertain significance
Select item 3242806	NC_000018.9:g.(?_42281312)_(42643663_?)dup	SETBP1	Duplication	not provided	GUncertain significance
Select item 3242805	NC_000018.9:g.(?_42529826)_(42533325_?)del	SETBP1	Deletion	not provided	GPathogenic
Select item 3063560	GRCh37/hg19 18q12.3(chr18:42424349-42622437)x1	SETBP1	Copy number loss	not specified	GPathogenic
Select item 2689946	NM_015559.3(SETBP1):c.4141C>A (p.Leu1381Ile)	SETBP1 (L1381I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689945	NM_015559.3(SETBP1):c.2236A>G (p.Ile746Val)	SETBP1 (I746V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689944	NM_015559.3(SETBP1):c.3926A>G (p.Tyr1309Cys)	SETBP1 (Y1309C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664065	NM_015559.3(SETBP1):c.4328C>G (p.Ser1443Ter)	SETBP1 (S1386* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GLikely pathogenic
Select item 2664055	NM_015559.3(SETBP1):c.3052A>C (p.Lys1018Gln)	SETBP1 (K1018Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 2664023	NM_015559.3(SETBP1):c.2161A>G (p.Ile721Val)	SETBP1 (I721V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	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 2578403	NM_015559.3(SETBP1):c.2812del (p.His938fs)	SETBP1 (H938fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 2443986	NM_015559.3(SETBP1):c.2564C>T (p.Pro855Leu)	SETBP1 (P855L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GLikely pathogenic
Select item 2435832	NM_015559.3(SETBP1):c.3799G>T (p.Gly1267Cys)	SETBP1 (G1267C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435831	NM_015559.3(SETBP1):c.3250C>G (p.Pro1084Ala)	SETBP1 (P1084A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435830	NM_015559.3(SETBP1):c.1361A>G (p.Asn454Ser)	SETBP1 (N454S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435829	NM_015559.3(SETBP1):c.3625A>G (p.Lys1209Glu)	SETBP1 (K1209E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435828	NM_015559.3(SETBP1):c.1556C>T (p.Pro519Leu)	SETBP1 (P519L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435827	NM_015559.3(SETBP1):c.3532G>A (p.Ala1178Thr)	SETBP1 (A1178T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435826	NM_015559.3(SETBP1):c.3535_3551delinsTGCAGGCAAAGCCTGCAAAAGCT (p.Thr1179_His1184delinsCysArgGlnSerLeuGlnLysLeu)	SETBP1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2435825	NM_015559.3(SETBP1):c.825_826delinsGG (p.Ser275_Gln276delinsArgGlu)	SETBP1	Indel (missense variant)	not provided	GUncertain significance
Select item 2435824	NM_015559.3(SETBP1):c.2923A>G (p.Thr975Ala)	SETBP1 (T975A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435823	NM_015559.3(SETBP1):c.1667T>C (p.Leu556Pro)	SETBP1 (L556P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435822	NM_015559.3(SETBP1):c.4723C>T (p.Gln1575Ter)	SETBP1 (Q1518* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2435821	NM_015559.3(SETBP1):c.1066A>C (p.Lys356Gln)	SETBP1 (K356Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807039	NM_015559.3(SETBP1):c.3294C>G (p.Asn1098Lys)	SETBP1 (N1098K)	Single nucleotide variant (missense variant)	not provided	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 1325053	NM_015559.3(SETBP1):c.2878_2879delinsG (p.Leu960fs)	SETBP1 (L960fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1184943	NM_015559.3(SETBP1):c.2372_2387del (p.Ser791fs)	SETBP1 (S791fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 987169	NM_015559.3(SETBP1):c.2671del (p.Arg891fs)	SETBP1 (R891fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987026	NM_015559.3(SETBP1):c.3151dup (p.Tyr1051fs)	SETBP1 (Y1051fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 986829	NM_015559.3(SETBP1):c.3770_3800dup (p.Gly1268fs)	SETBP1 (G1268fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 978114	NM_015559.3(SETBP1):c.1931G>A (p.Ser644Asn)	SETBP1 (S644N)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975771	NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter)	SETBP1 (S397*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 975770	NM_015559.3(SETBP1):c.4675G>A (p.Ala1559Thr)	SETBP1 (A1559T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 931693	NM_015559.3(SETBP1):c.3198C>A (p.Tyr1066Ter)	SETBP1 (Y1066*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 930461	NM_015559.3(SETBP1):c.3341G>C (p.Gly1114Ala)	SETBP1 (G1114A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 816007	GRCh37/hg19 18q12.3(chr18:42225174-42304325)x1	SETBP1	Copy number loss	not provided	GPathogenic
Select item 638281	NM_015559.3(SETBP1):c.1703G>T (p.Ser568Ile)	SETBP1 (S568I)	Single nucleotide variant (missense variant)	Lymphoma	GLikely pathogenic
Select item 591619	NM_015559.3(SETBP1):c.4597_4598del (p.Pro1533fs)	SETBP1 (P1533fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591564	NM_015559.3(SETBP1):c.4589_4593del (p.Leu1530fs)	SETBP1 (L1530fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591536	NM_015559.3(SETBP1):c.4589_4599del (p.Leu1530fs)	SETBP1 (L1530fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591495	NM_015559.3(SETBP1):c.4566_4567insGCCCCC (p.Leu1522_Pro1523insAlaPro)	SETBP1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 591479	NM_015559.3(SETBP1):c.4572_4578del (p.Pro1525fs)	SETBP1 (P1525fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591447	NM_015559.3(SETBP1):c.4572_4581del (p.Pro1525fs)	SETBP1 (P1525fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591444	NM_015559.3(SETBP1):c.4564dup (p.Leu1522fs)	SETBP1 (L1522fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591372	NM_015559.3(SETBP1):c.4572_4584del (p.Pro1526fs)	SETBP1 (P1526fs)	Deletion (frameshift variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 50