List of variants in gene KIFBP reported as uncertain significance for Goldberg-Shprintzen syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_015634.4(KIFBP):c.1326A>G (p.Arg442=)	rs143815412	0.00110
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=)	rs142011043	0.00058
NM_015634.4(KIFBP):c.*451T>C	rs968407883	0.00042
NM_015634.4(KIFBP):c.*20G>A	rs201287646	0.00022
NM_015634.4(KIFBP):c.901G>A (p.Glu301Lys)	rs149809657	0.00020
NM_015634.4(KIFBP):c.963C>T (p.Leu321=)	rs201076497	0.00014
NM_015634.4(KIFBP):c.*523C>T	rs980209545	0.00008
NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile)	rs561448573	0.00006
NM_015634.4(KIFBP):c.*133G>C	rs149549024	0.00004
NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr)	rs764557349	0.00004
NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr)	rs374731910	0.00004
NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala)	rs768592975	0.00004
NM_015634.4(KIFBP):c.781A>G (p.Ile261Val)	rs749110699	0.00004
NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly)	rs370902866	0.00003
NM_015634.4(KIFBP):c.1848C>A (p.Thr616=)	rs371537907	0.00003
NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys)	rs547582634	0.00002
NM_015634.4(KIFBP):c.858C>T (p.Ile286=)	rs757772205	0.00001
NM_015634.3:c.905_1020del
NM_015634.4(KIFBP):c.*233C>G	rs1359347457
NM_015634.4(KIFBP):c.*271T>C	rs1839011438
NM_015634.4(KIFBP):c.*306A>G	rs906078001
NM_015634.4(KIFBP):c.*39T>A	rs756615646
NM_015634.4(KIFBP):c.*486G>A	rs752736908
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs)	rs769950460
NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile)	rs1457900956
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs)	rs781469363
NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln)	rs1839004363
NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs)	rs1216570912
NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe)	rs1339934594
NM_015634.4(KIFBP):c.318C>T (p.Ile106=)	rs1248105995
NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser)	rs1589296239
NM_015634.4(KIFBP):c.875-10T>C	rs1843582622
NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys)	rs76319365
NM_015634.4(KIFBP):c.985A>G (p.Met329Val)

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