"Revvity Omics, Revvity"[submitter] AND "SETBP1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1237167	NM_015559.3(SETBP1):c.575A>G (p.His192Arg)	SETBP1 (H192R)	Single nucleotide variant (missense 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 2435825	NM_015559.3(SETBP1):c.825_826delinsGG (p.Ser275_Gln276delinsArgGlu)	SETBP1	Indel (missense variant)	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 2169699	NM_015559.3(SETBP1):c.1222G>A (p.Ala408Thr)	SETBP1 (A408T)	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 2435828	NM_015559.3(SETBP1):c.1556C>T (p.Pro519Leu)	SETBP1 (P519L)	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 2065612	NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln)	SETBP1 (R615Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1704866	NM_015559.3(SETBP1):c.2009A>G (p.Lys670Arg)	SETBP1 (K670R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048951	NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)	SETBP1 (E706G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1300875	NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn)	SETBP1 (T816N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 1325053	NM_015559.3(SETBP1):c.2878_2879delinsG (p.Leu960fs)	SETBP1 (L960fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1364887	NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln)	SETBP1 (R972Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2435831	NM_015559.3(SETBP1):c.3250C>G (p.Pro1084Ala)	SETBP1 (P1084A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694872	NM_015559.3(SETBP1):c.3367A>C (p.Met1123Leu)	SETBP1 (M1123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597006	NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln)	SETBP1 (R1162Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2435829	NM_015559.3(SETBP1):c.3625A>G (p.Lys1209Glu)	SETBP1 (K1209E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600746	NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)	SETBP1 (Q1244R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 717781	NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2116077	NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln)	SETBP1 (E1283Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1422118	NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val)	SETBP1 (G1353V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1370931	NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)	SETBP1 (A1436V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2435822	NM_015559.3(SETBP1):c.4723C>T (p.Gln1575Ter)	SETBP1 (Q1518* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 34