"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SUFU"[gene - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241088	NM_016169.4(SUFU):c.6G>T (p.Ala2=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GConflicting classifications of pathogenicity
Select item 241081	NM_016169.4(SUFU):c.12G>A (p.Leu4=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GBenign/Likely benign
Select item 413907	NM_016169.4(SUFU):c.50C>T (p.Ala17Val)	SUFU, LOC130004614 (A17V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1751617	NM_016169.4(SUFU):c.60G>C (p.Pro20=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1141280	NM_016169.4(SUFU):c.129C>T (p.Arg43=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1675433	NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)	SUFU (Y45F)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 241086	NM_016169.4(SUFU):c.210T>C (p.Tyr70=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GBenign/Likely benign
Select item 2640794	NM_016169.4(SUFU):c.225del (p.Asn76fs)	SUFU (N76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 524675	NM_016169.4(SUFU):c.255C>T (p.Pro85=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1146157	NM_016169.4(SUFU):c.258G>A (p.Glu86=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +3 more	GLikely benign
Select item 298572	NM_016169.4(SUFU):c.528C>T (p.His176=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 413912	NM_016169.4(SUFU):c.600C>T (p.Ile200=)	SUFU	Single nucleotide variant (synonymous variant)	Familial meningioma +5 more	GConflicting classifications of pathogenicity
Select item 453970	NM_016169.4(SUFU):c.645C>T (p.Asn215=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 524667	NM_016169.4(SUFU):c.849G>A (p.Glu283=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +3 more	GLikely benign
Select item 453981	NM_016169.4(SUFU):c.855C>T (p.Asp285=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GBenign/Likely benign
Select item 1140548	NM_016169.4(SUFU):c.911-8C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135282	NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)	SUFU (A340S)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GBenign/Likely benign
Select item 135286	NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)	SUFU (V369I)	Single nucleotide variant (missense variant)	Medulloblastoma +4 more	GConflicting classifications of pathogenicity
Select item 871140	NM_016169.4(SUFU):c.1220_1221insT (p.Phe408fs)	SUFU (F408fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 413910	NM_016169.4(SUFU):c.1245C>T (p.Gly415=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 453957	NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1771076	NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)	SUFU (L458F)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 524678	NM_016169.4(SUFU):c.1446G>A (p.Pro482=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GLikely benign
Select item 2672425	GRCh37/hg19 10q24.32(chr10:104352339-104404944)x1	SUFU, TRIM8	Copy number loss	not provided	GUncertain significance

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Items: 24