"Baylor Genetics"[submitter] AND "SUFU"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 956096	NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)	LOC130004614, SUFU (R5W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 524666	NM_016169.4(SUFU):c.26C>T (p.Ala9Val)	LOC130004614, SUFU (A9V)	Single nucleotide variant (missense variant)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 824354	NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)	LOC130004614, SUFU (T13I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 453965	NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)	LOC130004614, SUFU (P15T)	Single nucleotide variant (missense variant)	Joubert syndrome 32 +4 more	GUncertain significance
Select item 2679094	NM_016169.4(SUFU):c.56G>T (p.Gly19Val)	LOC130004614, SUFU (G19V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2127529	NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)	LOC130004614, SUFU (P20A)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 2679096	NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)	LOC130004614, SUFU (P20R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 3574	NM_016169.4(SUFU):c.71dup (p.Ala25fs)	LOC130004614, SUFU (A25fs)	Duplication (frameshift variant)	Medulloblastoma +2 more	GPathogenic
Select item 826834	NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)	LOC130004614, SUFU (P24A)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 1773688	NM_016169.4(SUFU):c.103C>T (p.His35Tyr)	LOC130004614, SUFU (H35Y)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GUncertain significance
Select item 241079	NM_016169.4(SUFU):c.107C>T (p.Ala36Val)	SUFU (A36V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 852769	NM_016169.4(SUFU):c.109A>G (p.Ile37Val)	SUFU (I37V)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 2180129	NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)	SUFU (P46R)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 241084	NM_016169.4(SUFU):c.183-4G>A	SUFU	Single nucleotide variant (intron variant)	SUFU-related condition +4 more	GConflicting classifications of pathogenicity
Select item 821503	NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)	SUFU (E86K)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GUncertain significance
Select item 406392	NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	SUFU (S92T)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 642919	NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)	SUFU (G143S)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 241087	NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)	SUFU (N169S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2679095	NM_016169.4(SUFU):c.657C>G (p.Ile219Met)	SUFU (I219M)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 946804	NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)	SUFU (P232A)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 999529	NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)	SUFU (R239Q)	Single nucleotide variant (missense variant)	Gorlin syndrome +4 more	GUncertain significance
Select item 569564	NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)	SUFU (T243N)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 453979	NM_016169.4(SUFU):c.777C>G (p.Ile259Met)	SUFU (I259M)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 574724	NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)	SUFU (R280W)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GConflicting classifications of pathogenicity
Select item 524669	NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)	SUFU	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 822724	NM_016169.4(SUFU):c.877A>G (p.Ile293Val)	SUFU (I293V)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 572184	NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)	SUFU (R298W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 406382	NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)	SUFU (R309W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 406386	NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)	SUFU (R309Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 571806	NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)	SUFU (E310K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1039020	NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)	SUFU (G315R)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 453985	NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)	SUFU (R331W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 241078	NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)	SUFU (R339W)	Single nucleotide variant (missense variant)	Joubert syndrome 32 +5 more	GUncertain significance
Select item 663073	NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)	SUFU (R339Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 406394	NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)	SUFU (R343C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 135283	NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	SUFU (S349G)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 406398	NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	SUFU (T353M)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GConflicting classifications of pathogenicity
Select item 453951	NM_016169.4(SUFU):c.1085G>A (p.Arg362His)	SUFU (R362H)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 965095	NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)	SUFU (N374S)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 524656	NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)	SUFU (R393W)	Single nucleotide variant (missense variant)	Medulloblastoma +5 more	GUncertain significance
Select item 486528	NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)	SUFU (T411M)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GConflicting classifications of pathogenicity
Select item 650905	NM_016169.4(SUFU):c.1280A>G (p.His427Arg)	SUFU (H427R)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 620602	NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)	SUFU (E437K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 453960	NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	SUFU (K460R)	Single nucleotide variant (missense variant)	Familial meningioma +5 more	GConflicting classifications of pathogenicity

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Items: 46