C3551915[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7844	NM_000314.8(PTEN):c.-765G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189474	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN (Y68H +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +7 more	GPathogenic/Likely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 427619	NM_000314.8(PTEN):c.492+1G>T	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 189500	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127696	NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	PTEN (S305N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +12 more	GPathogenic OOncogenic
Select item 818542	NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)	PTEN (H397Y +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +6 more	GUncertain significance
Select item 956096	NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)	LOC130004614, SUFU (R5W)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 1024959	NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)	LOC130004614, SUFU (P6S)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 524666	NM_016169.4(SUFU):c.26C>T (p.Ala9Val)	LOC130004614, SUFU (A9V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 824354	NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)	SUFU, LOC130004614 (T13I)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GUncertain significance
Select item 835932	NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])	LOC130004614, SUFU	Deletion (inframe_deletion)	Gorlin syndrome +2 more	GUncertain significance
Select item 453965	NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)	LOC130004614, SUFU (P15T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 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)	Familial meningioma +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 +1 more	GUncertain significance
Select item 2929189	NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)	LOC130004614, SUFU (P23R)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GUncertain significance
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 1763239	NM_016169.4(SUFU):c.83C>T (p.Ser28Leu)	LOC130004614, SUFU (S28L)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 843404	NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)	LOC130004614, SUFU (L29R)	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)	not provided +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)	Gorlin syndrome +4 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 524664	NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)	SUFU (R75S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1374912	NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)	SUFU (N83D)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 821503	NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)	SUFU (E86K)	Single nucleotide variant (missense variant)	SUFU-related disorder +6 more	GUncertain significance
Select item 406392	NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	SUFU (S92T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 648539	NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)	SUFU (T110R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3240557	NM_016169.4(SUFU):c.598-83G>A	SUFU	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 838383	NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)	SUFU (Q213E)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 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)	Gorlin syndrome +3 more	GUncertain significance
Select item 999529	NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)	SUFU (R239Q)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GUncertain significance
Select item 569564	NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)	SUFU (T243N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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 1762698	NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)	SUFU (D276Y)	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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2566880	NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)	SUFU (E283A)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 582319	NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)	SUFU (E283G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 1352064	NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)	SUFU (E286D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 576373	NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)	SUFU (R289W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 406380	NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)	SUFU (R289Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 822724	NM_016169.4(SUFU):c.877A>G (p.Ile293Val)	SUFU (I293V)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 958104	NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)	SUFU (I293N)	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 648117	NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)	SUFU (R299Q)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 406382	NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)	SUFU (R309W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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)	not provided +4 more	GUncertain significance
Select item 1039020	NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)	SUFU (G315R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3240559	NM_016169.4(SUFU):c.944G>C (p.Gly315Ala)	SUFU (G315A)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 640398	NM_016169.4(SUFU):c.979A>G (p.Ile327Val)	SUFU (I327V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 453985	NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)	SUFU (R331W)	Single nucleotide variant (missense variant)	not provided +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	GConflicting classifications of pathogenicity
Select item 663073	NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)	SUFU (R339Q)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 524662	NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)	SUFU (R339P)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 406394	NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)	SUFU (R343C)	Single nucleotide variant (missense variant)	Familial meningioma +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 642242	NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)	SUFU (D345G)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 135283	NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	SUFU (S349G)	Single nucleotide variant (missense variant)	Familial meningioma +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 1723599	NM_016169.4(SUFU):c.1082T>G (p.Ile361Ser)	SUFU (I361S)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 453951	NM_016169.4(SUFU):c.1085G>A (p.Arg362His)	SUFU (R362H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135286	NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)	SUFU (V369I)	Single nucleotide variant (missense variant)	not provided +5 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	GConflicting classifications of pathogenicity
Select item 3240556	NM_016169.4(SUFU):c.1157+1del	SUFU	Deletion (splice donor variant)	Familial meningioma	GLikely pathogenic
Select item 524656	NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)	SUFU (R393W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2928736	NM_016169.4(SUFU):c.1180C>G (p.His394Asp)	SUFU (H394D)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GUncertain significance
Select item 524661	NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)	SUFU (S399N)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 486528	NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)	SUFU (T411M)	Single nucleotide variant (missense variant)	Familial meningioma +5 more	GConflicting classifications of pathogenicity
Select item 650905	NM_016169.4(SUFU):c.1280A>G (p.His427Arg)	SUFU (H427R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 620602	NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)	SUFU (E437K)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GConflicting classifications of pathogenicity
Select item 3240555	NM_016169.4(SUFU):c.1333G>A (p.Glu445Lys)	SUFU (E445K)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 453960	NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	SUFU (K460R)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 654067	NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)	SMARCE1 (P405A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1743579	NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)	SMARCE1 (V396M)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 647309	NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)	SMARCE1 (A394T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 962742	NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)	SMARCE1 (S393G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1011963	NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu)	SMARCE1 (S389L)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 1020430	NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)	SMARCE1 (T387P)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 463420	NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)	SMARCE1 (S383N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 565919	NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)	SMARCE1 (M377V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 641673	NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)	SMARCE1 (D375N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1385743	NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg)	SMARCE1 (G373R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 407068	NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)	SMARCE1 (E365D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1956180	NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)	SMARCE1 (T363I)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 463412	NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)	SMARCE1 (T361M)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 818347	NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg)	SMARCE1 (G360R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 407076	NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)	SMARCE1 (E359del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2679027	NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)	SMARCE1 (E359*)	Single nucleotide variant (nonsense)	Familial meningioma	GUncertain significance
Select item 1410751	NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)	SMARCE1 (G357D)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 532249	NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser)	SMARCE1 (N356S)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GConflicting classifications of pathogenicity
Select item 2679023	NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)	SMARCE1 (E352Q)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance

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