"GeneDx"[submitter] AND "SETBP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 1244030	NM_015559.3(SETBP1):c.-172-195G>A	SETBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1207198	NM_015559.3(SETBP1):c.-172-130del	SETBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2837895	NM_015559.3(SETBP1):c.49T>C (p.Ser17Pro)	SETBP1 (S17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712223	NM_015559.3(SETBP1):c.100G>T (p.Ala34Ser)	SETBP1 (A34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1312981	NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)	SETBP1 (R54C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1600376	NM_015559.3(SETBP1):c.161G>A (p.Arg54His)	SETBP1 (R54H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2502526	NM_015559.3(SETBP1):c.176_191dup (p.Gly64_Ser65insGlyGlyTer)	SETBP1	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1801196	NM_015559.3(SETBP1):c.194C>T (p.Ser65Leu)	SETBP1 (S65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350836	NM_015559.3(SETBP1):c.208G>T (p.Asp70Tyr)	SETBP1 (D70Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802341	NM_015559.3(SETBP1):c.244G>T (p.Ala82Ser)	SETBP1 (A82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620362	NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)	SETBP1 (Q89*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1700470	NM_015559.3(SETBP1):c.334C>T (p.Arg112Trp)	SETBP1 (R112W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306136	NM_015559.3(SETBP1):c.352A>G (p.Lys118Glu)	SETBP1 (K118E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340763	NM_015559.3(SETBP1):c.458A>T (p.Glu153Val)	SETBP1 (E153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043120	NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)	SETBP1 (S157N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1274605	NM_015559.3(SETBP1):c.486+200C>T	SETBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199703	NM_015559.3(SETBP1):c.486+330A>G	SETBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195234	NM_015559.3(SETBP1):c.487-211AG[4]	SETBP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3364721	NM_015559.3(SETBP1):c.487-13T>C	SETBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1310084	NM_015559.3(SETBP1):c.487-2A>G	SETBP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 429524	NM_015559.3(SETBP1):c.487-1G>A	SETBP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1703463	NM_015559.3(SETBP1):c.527G>A (p.Gly176Glu)	SETBP1 (G176E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218236	NM_015559.3(SETBP1):c.540+25A>C	SETBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252291	NM_015559.3(SETBP1):c.540+57G>A	SETBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300605	NM_015559.3(SETBP1):c.540+7239T>G	SETBP1	Single nucleotide variant (intron variant)	not provided	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 326725	NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT	SETBP1 (T228fs)	Insertion (frameshift variant +1 more)	not specified +2 more	GBenign
Select item 1203788	NM_015559.3(SETBP1):c.540+7656G>A	SETBP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1237167	NM_015559.3(SETBP1):c.575A>G (p.His192Arg)	SETBP1 (H192R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1256654	NM_015559.3(SETBP1):c.607G>A (p.Gly203Ser)	SETBP1 (G203S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2446686	NM_015559.3(SETBP1):c.638A>C (p.Lys213Thr)	SETBP1 (K213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196900	NM_015559.3(SETBP1):c.658A>C (p.Met220Leu)	SETBP1 (M220L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 620306	NM_015559.3(SETBP1):c.666G>A (p.Trp222Ter)	SETBP1 (W222*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29 +1 more	GPathogenic
Select item 1219390	NM_015559.3(SETBP1):c.684C>T (p.Ser228=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	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 1804372	NM_015559.3(SETBP1):c.689C>A (p.Pro230His)	SETBP1 (P230H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1312520	NM_015559.3(SETBP1):c.695C>T (p.Thr232Ile)	SETBP1 (T232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708806	NM_015559.3(SETBP1):c.716C>G (p.Pro239Arg)	SETBP1 (P239R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136112	NM_015559.3(SETBP1):c.754C>T (p.Pro252Ser)	SETBP1 (P252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193960	NM_015559.3(SETBP1):c.757G>A (p.Ala253Thr)	SETBP1 (A253T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724703	NM_015559.3(SETBP1):c.768C>T (p.Pro256=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576753	NM_015559.3(SETBP1):c.811G>C (p.Gly271Arg)	SETBP1 (G271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489124	NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter)	SETBP1 (W274*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1326058	NM_015559.3(SETBP1):c.827A>G (p.Gln276Arg)	SETBP1 (Q276R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946333	NM_015559.3(SETBP1):c.869C>T (p.Ala290Val)	SETBP1 (A290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699547	NM_015559.3(SETBP1):c.973C>A (p.Pro325Thr)	SETBP1 (P325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702305	NM_015559.3(SETBP1):c.991G>T (p.Val331Leu)	SETBP1 (V331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 1218501	NM_015559.3(SETBP1):c.1087G>T (p.Asp363Tyr)	SETBP1 (D363Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 703262	NM_015559.3(SETBP1):c.1119C>T (p.Ser373=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331327	NM_015559.3(SETBP1):c.1139C>T (p.Ala380Val)	SETBP1 (A380V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 326736	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
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 562032	NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)	SETBP1 (V400I)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 1573706	NM_015559.3(SETBP1):c.1204A>G (p.Ile402Val)	SETBP1 (I402V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 702636	NM_015559.3(SETBP1):c.1248T>C (p.His416=)	SETBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 489374	NM_015559.3(SETBP1):c.1264C>T (p.Gln422Ter)	SETBP1 (Q422*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3363745	NM_015559.3(SETBP1):c.1282G>C (p.Val428Leu)	SETBP1 (V428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327861	NM_015559.3(SETBP1):c.1303A>G (p.Lys435Glu)	SETBP1 (K435E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806828	NM_015559.3(SETBP1):c.1307C>T (p.Ala436Val)	SETBP1 (A436V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216789	NM_015559.3(SETBP1):c.1329del (p.Met443fs)	SETBP1 (M443fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1200454	NM_015559.3(SETBP1):c.1354C>T (p.Leu452Phe)	SETBP1 (L452F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1328658	NM_015559.3(SETBP1):c.1382A>G (p.Asp461Gly)	SETBP1 (D461G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 326738	NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr)	SETBP1 (S495T)	Single nucleotide variant (missense variant)	not provided	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 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1301504	NM_015559.3(SETBP1):c.1493G>A (p.Arg498Gln)	SETBP1 (R498Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2787279	NM_015559.3(SETBP1):c.1516C>A (p.Pro506Thr)	SETBP1 (P506T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499965	NM_015559.3(SETBP1):c.1568A>C (p.His523Pro)	SETBP1 (H523P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280223	NM_015559.3(SETBP1):c.1568del (p.His523fs)	SETBP1 (H523fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1311292	NM_015559.3(SETBP1):c.1575A>C (p.Lys525Asn)	SETBP1 (K525N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 326742	NM_015559.3(SETBP1):c.1581T>G (p.Ala527=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3373224	NM_015559.3(SETBP1):c.1582G>A (p.Ala528Thr)	SETBP1 (A528T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484056	NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile)	SETBP1 (T533I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1691749	NM_015559.3(SETBP1):c.1626G>A (p.Met542Ile)	SETBP1 (M542I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620563	NM_015559.3(SETBP1):c.1630C>T (p.Arg544Ter)	SETBP1 (R544*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1310987	NM_015559.3(SETBP1):c.1631G>C (p.Arg544Pro)	SETBP1 (R544P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523811	NM_015559.3(SETBP1):c.1633G>T (p.Glu545Ter)	SETBP1 (E545*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1364399	NM_015559.3(SETBP1):c.1645G>A (p.Ala549Thr)	SETBP1 (A549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662616	NM_015559.3(SETBP1):c.1652C>T (p.Ser551Phe)	SETBP1 (S551F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524046	NM_015559.3(SETBP1):c.1661del (p.Leu554fs)	SETBP1 (L554fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 423032	NM_015559.3(SETBP1):c.1676del (p.Pro559fs)	SETBP1 (P559fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2662922	NM_015559.3(SETBP1):c.1676C>G (p.Pro559Arg)	SETBP1 (P559R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662159	NM_015559.3(SETBP1):c.1688C>G (p.Pro563Arg)	SETBP1 (P563R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311533	NM_015559.3(SETBP1):c.1727G>A (p.Ser576Asn)	SETBP1 (S576N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311293	NM_015559.3(SETBP1):c.1729C>A (p.Leu577Ile)	SETBP1 (L577I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704065	NM_015559.3(SETBP1):c.1734T>C (p.Thr578=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3364462	NM_015559.3(SETBP1):c.1776G>T (p.Lys592Asn)	SETBP1 (K592N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817764	NM_015559.3(SETBP1):c.1827dup (p.Val610fs)	SETBP1 (V610fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1698356	NM_015559.3(SETBP1):c.1852C>G (p.Pro618Ala)	SETBP1 (P618A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364499	NM_015559.3(SETBP1):c.1865_1873dup (p.Lys624_Arg625insGlnArgLys)	SETBP1	Duplication	not provided	GUncertain significance
Select item 1712099	NM_015559.3(SETBP1):c.1869A>T (p.Arg623Ser)	SETBP1 (R623S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1 (R625*)	Single nucleotide variant (nonsense)	Schinzel-Giedion syndrome +2 more	GPathogenic
Select item 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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