"Illumina Laboratory Services, Illumina"[submitter] AND "SUFU"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878699	NM_016169.3(SUFU):c.-202C>T	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	Medulloblastoma	GUncertain significance
Select item 878700	NM_016169.3(SUFU):c.-189C>T	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	Medulloblastoma	GUncertain significance
Select item 298563	NM_016169.4(SUFU):c.-181A>G	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298564	NM_016169.4(SUFU):c.-178C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma +1 more	GBenign
Select item 298565	NM_016169.4(SUFU):c.-163A>G	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298566	NM_016169.4(SUFU):c.-103C>A	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298568	NM_016169.4(SUFU):c.-81C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298567	NM_016169.4(SUFU):c.-81C>A	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298569	NM_016169.4(SUFU):c.-33C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
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=)	SUFU, LOC130004614	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GBenign/Likely benign
Select item 413907	NM_016169.4(SUFU):c.50C>T (p.Ala17Val)	LOC130004614, SUFU (A17V)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 241083	NM_016169.4(SUFU):c.169A>G (p.Ile57Val)	SUFU (I57V)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 298570	NM_016169.4(SUFU):c.180C>T (p.Tyr60=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma	GUncertain significance
Select item 298571	NM_016169.4(SUFU):c.183-13T>G	SUFU	Single nucleotide variant (intron variant)	Medulloblastoma	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 486531	NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)	SUFU (C156R)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 298572	NM_016169.4(SUFU):c.528C>T (p.His176=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 453966	NM_016169.4(SUFU):c.529A>G (p.Met177Val)	SUFU (M177V)	Single nucleotide variant (missense 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)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 880480	NM_016169.4(SUFU):c.696C>G (p.Pro232=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma	GUncertain significance
Select item 298573	NM_016169.4(SUFU):c.756+10G>C	SUFU	Single nucleotide variant (intron variant)	Medulloblastoma +1 more	GConflicting classifications of pathogenicity
Select item 241089	NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)	SUFU (R280Q)	Single nucleotide variant (missense variant)	Medulloblastoma +6 more	GConflicting classifications of pathogenicity
Select item 298574	NM_016169.4(SUFU):c.910+14C>T	SUFU	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 406377	NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)	SUFU (R331Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135282	NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)	SUFU (A340S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 3571	NM_016169.4(SUFU):c.1022+1G>A	SUFU	Single nucleotide variant (splice donor variant)	SUFU-related disorders +4 more	GConflicting classifications of pathogenicity
Select item 135285	NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SUFU (R343H)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 632125	NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs)	SUFU (R393fs)	Duplication (frameshift variant)	Medulloblastoma	GUncertain significance
Select item 241080	NM_016169.4(SUFU):c.1291T>C (p.Leu431=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +4 more	GBenign/Likely benign
Select item 260687	NM_016169.4(SUFU):c.1299T>C (p.Ile433=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 241082	NM_016169.4(SUFU):c.1308C>T (p.Thr436=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +3 more	GBenign/Likely benign
Select item 413911	NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)	SUFU (P482L)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 298575	NM_016169.4(SUFU):c.*61G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298576	NM_016169.4(SUFU):c.*118C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 298577	NM_016169.4(SUFU):c.*131C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 878754	NM_016169.4(SUFU):c.*138C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298578	NM_016169.4(SUFU):c.*205G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 878755	NM_016169.4(SUFU):c.*305C>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298579	NM_016169.4(SUFU):c.*352C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298580	NM_016169.4(SUFU):c.*376G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298581	NM_016169.4(SUFU):c.*391A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 879341	NM_016169.4(SUFU):c.*405G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298582	NM_016169.4(SUFU):c.*476A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879342	NM_016169.4(SUFU):c.*505T>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298583	NM_016169.4(SUFU):c.*520G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879343	NM_016169.4(SUFU):c.*721T>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879702	NM_016169.4(SUFU):c.*742G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 879703	NM_016169.4(SUFU):c.*844G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298584	NM_016169.4(SUFU):c.*907C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298585	NM_016169.4(SUFU):c.*915G>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298586	NM_016169.4(SUFU):c.*1104C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298587	NM_016169.4(SUFU):c.*1122C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 879704	NM_016169.4(SUFU):c.*1145A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298588	NM_016169.4(SUFU):c.*1373C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 298589	NM_016169.4(SUFU):c.*1389C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298590	NM_016169.4(SUFU):c.*1451C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298591	NM_016169.4(SUFU):c.*1633C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 298592	NM_016169.4(SUFU):c.*1672A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298593	NM_016169.4(SUFU):c.*1675G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 877758	NM_016169.4(SUFU):c.*1690A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298594	NM_016169.4(SUFU):c.*1715A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 877759	NM_016169.4(SUFU):c.*1720C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 878789	NM_016169.4(SUFU):c.*1785C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298595	NM_016169.4(SUFU):c.*1889C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 878790	NM_016169.4(SUFU):c.*1908C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298596	NM_016169.4(SUFU):c.*1936C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298597	NM_016169.4(SUFU):c.*1997A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298598	NM_016169.4(SUFU):c.*2140G>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 878791	NM_016169.4(SUFU):c.*2150G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298599	NM_016169.4(SUFU):c.*2157C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298600	NM_016169.4(SUFU):c.*2172G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298601	NM_016169.4(SUFU):c.*2195G>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298602	NM_016169.4(SUFU):c.*2267G>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879378	NM_016169.4(SUFU):c.*2278C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298603	NM_016169.4(SUFU):c.*2475C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879379	NM_016169.4(SUFU):c.*2479C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298604	NM_016169.4(SUFU):c.*2553T>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298605	NM_016169.4(SUFU):c.*2585T>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 298606	NM_016169.4(SUFU):c.*2643C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879763	NM_016169.4(SUFU):c.*2657T>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298607	NM_016169.4(SUFU):c.*2668C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GBenign
Select item 298608	NM_016169.4(SUFU):c.*2720C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298609	NM_016169.4(SUFU):c.*2729T>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879764	NM_016169.4(SUFU):c.*2757G>A	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298610	NM_016169.4(SUFU):c.*2956C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 879765	NM_016169.4(SUFU):c.*3025T>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 877803	NM_016169.4(SUFU):c.*3045A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298611	NM_016169.4(SUFU):c.*3086A>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 877804	NM_016169.4(SUFU):c.*3110C>T	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298612	NM_016169.4(SUFU):c.3239_3241del	SUFU	Deletion (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298613	NM_016169.4(SUFU):c.*3239C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 877805	NM_016169.4(SUFU):c.*3268G>C	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign
Select item 298614	NM_016169.4(SUFU):c.*3290C>G	SUFU	Single nucleotide variant (3 prime UTR variant)	Medulloblastoma	GLikely benign

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Items: 94