SETBP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
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 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	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 147502	GRCh38/hg38 18q12.3(chr18:44401938-45869924)x1	EPG5, LINC01478 +37 more	Copy number loss	See cases	GUncertain significance
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 2571012	NM_015559.3(SETBP1):c.-248G>T	SETBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 2578809	NM_015559.3(SETBP1):c.-164C>G	SETBP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1716043	NM_015559.3(SETBP1):c.10A>G (p.Arg4Gly)	SETBP1 (R4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080727	NM_015559.3(SETBP1):c.25A>G (p.Ser9Gly)	SETBP1 (S9G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1491005	NM_015559.3(SETBP1):c.26G>C (p.Ser9Thr)	SETBP1 (S9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885806	NM_015559.3(SETBP1):c.31C>G (p.Arg11Gly)	SETBP1 (R11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431766	NM_015559.3(SETBP1):c.31C>T (p.Arg11Trp)	SETBP1 (R11W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2172406	NM_015559.3(SETBP1):c.32G>A (p.Arg11Gln)	SETBP1 (R11Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 934587	NM_015559.3(SETBP1):c.44dup (p.Glu16fs)	SETBP1 (E16fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2818800	NM_015559.3(SETBP1):c.44G>T (p.Gly15Val)	SETBP1 (G15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319753	NM_015559.3(SETBP1):c.44G>A (p.Gly15Asp)	SETBP1 (G15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550467	NM_015559.3(SETBP1):c.45C>T (p.Gly15=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2837895	NM_015559.3(SETBP1):c.49T>C (p.Ser17Pro)	SETBP1 (S17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397601	NM_015559.3(SETBP1):c.55T>G (p.Phe19Val)	SETBP1 (F19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510316	NM_015559.3(SETBP1):c.59T>C (p.Leu20Pro)	SETBP1 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334584	NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)	SETBP1 (P21L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2178350	NM_015559.3(SETBP1):c.63G>A (p.Pro21=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439303	NM_015559.3(SETBP1):c.67T>C (p.Ser23Pro)	SETBP1 (S23P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2870784	NM_015559.3(SETBP1):c.71C>T (p.Ser24Leu)	SETBP1 (S24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748791	NM_015559.3(SETBP1):c.78G>A (p.Lys26=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402103	NM_015559.3(SETBP1):c.79C>T (p.Pro27Ser)	SETBP1 (P27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3257360	NM_015559.3(SETBP1):c.80C>T (p.Pro27Leu)	SETBP1 (P27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056393	NM_015559.3(SETBP1):c.83C>T (p.Pro28Leu)	SETBP1 (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849874	NM_015559.3(SETBP1):c.84A>G (p.Pro28=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598698	NM_015559.3(SETBP1):c.85G>A (p.Ala29Thr)	SETBP1 (A29T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1501041	NM_015559.3(SETBP1):c.86C>T (p.Ala29Val)	SETBP1 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821304	NM_015559.3(SETBP1):c.96C>G (p.Gly32=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1944616	NM_015559.3(SETBP1):c.101C>T (p.Ala34Val)	SETBP1 (A34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664548	NM_015559.3(SETBP1):c.102A>C (p.Ala34=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1476862	NM_015559.3(SETBP1):c.109C>T (p.Pro37Ser)	SETBP1 (P37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430819	NM_015559.3(SETBP1):c.110C>A (p.Pro37His)	SETBP1 (P37H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1359273	NM_015559.3(SETBP1):c.110C>T (p.Pro37Leu)	SETBP1 (P37L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2850888	NM_015559.3(SETBP1):c.111T>G (p.Pro37=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011435	NM_015559.3(SETBP1):c.113T>C (p.Leu38Ser)	SETBP1 (L38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646299	NM_015559.3(SETBP1):c.117C>T (p.Leu39=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361268	NM_015559.3(SETBP1):c.131C>G (p.Pro44Arg)	SETBP1 (P44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858417	NM_015559.3(SETBP1):c.134G>C (p.Gly45Ala)	SETBP1 (G45A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132374	NM_015559.3(SETBP1):c.135G>A (p.Gly45=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389272	NM_015559.3(SETBP1):c.141G>T (p.Gly47=)	SETBP1	Single nucleotide variant (synonymous 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 425151	NM_015559.3(SETBP1):c.144C>G (p.Ile48Met)	SETBP1 (I48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499841	NM_015559.3(SETBP1):c.146C>T (p.Pro49Leu)	SETBP1 (P49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430572	NM_015559.3(SETBP1):c.148G>A (p.Val50Met)	SETBP1 (V50M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1626339	NM_015559.3(SETBP1):c.153C>T (p.Gly51=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043073	NM_015559.3(SETBP1):c.154G>A (p.Gly52Arg)	SETBP1 (G52R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2753347	NM_015559.3(SETBP1):c.155G>A (p.Gly52Glu)	SETBP1 (G52E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2010139	NM_015559.3(SETBP1):c.159_160delinsTT (p.Glu53_Arg54delinsAspCys)	SETBP1	Indel (missense variant)	not provided	GUncertain significance
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 2326901	NM_015559.3(SETBP1):c.161G>C (p.Arg54Pro)	SETBP1 (R54P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1388157	NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu)	SETBP1 (R54L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1984100	NM_015559.3(SETBP1):c.163A>G (p.Met55Val)	SETBP1 (M55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1973755	NM_015559.3(SETBP1):c.170C>T (p.Pro57Leu)	SETBP1 (P57L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1587467	NM_015559.3(SETBP1):c.171A>G (p.Pro57=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502526	NM_015559.3(SETBP1):c.176_191dup (p.Gly64_Ser65insGlyGlyTer)	SETBP1	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2826835	NM_015559.3(SETBP1):c.175G>A (p.Glu59Lys)	SETBP1 (E59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172403	NM_015559.3(SETBP1):c.177G>A (p.Glu59=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887227	NM_015559.3(SETBP1):c.178G>A (p.Glu60Lys)	SETBP1 (E60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021654	NM_015559.3(SETBP1):c.185A>T (p.Glu62Val)	SETBP1 (E62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 730059	NM_015559.3(SETBP1):c.199C>A (p.Arg67=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351838	NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln)	SETBP1 (R67Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1675703	NM_015559.3(SETBP1):c.204T>C (p.Asp68=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2703070	NM_015559.3(SETBP1):c.210T>G (p.Asp70Glu)	SETBP1 (D70E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1571811	NM_015559.3(SETBP1):c.222C>T (p.Asn74=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420626	NM_015559.3(SETBP1):c.222C>A (p.Asn74Lys)	SETBP1 (N74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004563	NM_015559.3(SETBP1):c.224C>T (p.Ala75Val)	SETBP1 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471816	NM_015559.3(SETBP1):c.225G>A (p.Ala75=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908614	NM_015559.3(SETBP1):c.230G>A (p.Ser77Asn)	SETBP1 (S77N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3366975	NM_015559.3(SETBP1):c.239G>A (p.Trp80Ter)	SETBP1 (W80*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GLikely pathogenic
Select item 2820188	NM_015559.3(SETBP1):c.240G>A (p.Trp80Ter)	SETBP1 (W80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2113401	NM_015559.3(SETBP1):c.240G>T (p.Trp80Cys)	SETBP1 (W80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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