List of variants in gene SUFU reported as likely pathogenic

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: 38

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HGVS	dbSNP	gnomAD frequency
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NM_016169.4(SUFU):c.1008_1012delinsTGAGGC (p.His337fs)	rs2545101102
NM_016169.4(SUFU):c.1022dup (p.Ser342fs)	rs2135889249
NM_016169.4(SUFU):c.1023-2A>T	rs1060501105
NM_016169.4(SUFU):c.1131dup (p.Gly378fs)	rs1590082278
NM_016169.4(SUFU):c.1157+1G>A	rs2492780272
NM_016169.4(SUFU):c.1157+1del	rs2492780262
NM_016169.4(SUFU):c.1296+1635C>A	rs975490066
NM_016169.4(SUFU):c.1312del (p.Glu438fs)	rs2135954200
NM_016169.4(SUFU):c.1365+1G>A	rs2063794106
NM_016169.4(SUFU):c.1365+2T>G
NM_016169.4(SUFU):c.1391G>A (p.Trp464Ter)	rs2135959437
NM_016169.4(SUFU):c.177G>T (p.Lys59Asn)	rs2135598858
NM_016169.4(SUFU):c.182+1G>A	rs2135598885
NM_016169.4(SUFU):c.182+3A>C	rs1589970228
NM_016169.4(SUFU):c.183-1G>A	rs1554841447
NM_016169.4(SUFU):c.183-1G>T	rs1554841447
NM_016169.4(SUFU):c.183-2A>C	rs2135619894
NM_016169.4(SUFU):c.183-4_247del	rs2544845356
NM_016169.4(SUFU):c.317+1G>A	rs2135621012
NM_016169.4(SUFU):c.318-1G>C	rs2135742927
NM_016169.4(SUFU):c.555dup (p.Gln186fs)	rs2135867122
NM_016169.4(SUFU):c.597+1G>A	rs1590062006
NM_016169.4(SUFU):c.597+1G>C	rs1590062006
NM_016169.4(SUFU):c.683+1G>A	rs2135870923
NM_016169.4(SUFU):c.683+5G>A	rs2135870931
NM_016169.4(SUFU):c.684-2A>G	rs1590063305
NM_016169.4(SUFU):c.684-2A>T
NM_016169.4(SUFU):c.739_756+12del	rs2545087054
NM_016169.4(SUFU):c.846del (p.Glu283fs)	rs1477199832
NM_016169.4(SUFU):c.847G>T (p.Glu283Ter)	rs1554852789
NM_016169.4(SUFU):c.881dup (p.Thr295fs)	rs2545095052
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)	rs1564698850
NM_016169.4(SUFU):c.902_903del (p.Ser301fs)	rs2545095292
NM_016169.4(SUFU):c.911-1G>T	rs2545100262
NM_016169.4(SUFU):c.911-2A>C	rs2545100258
NM_016169.4(SUFU):c.911-8C>A	rs771361493
NM_016169.4(SUFU):c.946_952del (p.Leu316fs)	rs2545100510

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