C0004779[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327063	NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly)	PTCH2 (S1152G)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 453937	NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val)	PTCH2 (A1090V)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1327101	NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser)	PTCH2 (R1086S)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 696432	NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)	PTCH2 (V968I)	Single nucleotide variant (missense variant)	Gorlin syndrome	GConflicting classifications of pathogenicity
Select item 952970	NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln)	PTCH2 (E906Q)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 639085	NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys)	PTCH2 (R898C)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 1017312	NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys)	PTCH2 (E738K)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 6145	NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)	PTCH2	Microsatellite (nonsense)	Gorlin syndrome	GConflicting classifications of pathogenicity
Select item 575345	NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu)	PTCH2 (Q364E)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 524629	NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)	PTCH2 (L104P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GConflicting classifications of pathogenicity
Select item 655010	NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg)	PTCH2 (K101R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 997493	NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile)	PTCH2 (L59I)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 524520	NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)	PTCH1 (N1381S +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1503256	NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)	PTCH1 (E1373* +4 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 453892	NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)	PTCH1 (Q1433L +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 935029	NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser)	PTCH1 (P1248S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 237498	NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)	PTCH1 (G1329R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 409149	NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])	PTCH1	Microsatellite (inframe_insertion +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 836705	NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)	PTCH1 (A1229V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 638918	NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met)	PTCH1 (V1226M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 220282	NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)	PTCH1 (T1289A +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 568682	NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)	PTCH1 (A1353V +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1512707	NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)	PTCH1 (N1197K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1057783	NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)	PTCH1 (G1189D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 453876	NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)	PTCH1 (R1272H +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 1736986	NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)	PTCH1 (A1186T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 855117	NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)	PTCH1 (R1308S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 824386	NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)	PTCH1 (R1157fs +4 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 2560650	NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)	PTCH1 (P1286S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 965248	NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)	PTCH1 (V1119I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1479067	NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)	PTCH1 (V1203M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 2430876	NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)	PTCH1 (F1113L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 1734591	NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)	PTCH1 (H1186Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 409131	NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)	PTCH1 (P1250S +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 409161	NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)	PTCH1 (G1182E +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 663251	NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)	PTCH1 (D1222N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 645085	NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)	PTCH1 (S1197C +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 655369	NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)	PTCH1 (R1041C +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 567149	NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)	PTCH1 (G1189C +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1058007	NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)	PTCH1 (V1004M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 944525	NM_000264.5(PTCH1):c.3449+10C>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 161355	NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)	PTCH1 (A1075V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 960138	NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)	PTCH1 (L1082V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 835140	NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)	PTCH1 (S1080T +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 453848	NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)	PTCH1 (V1116M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 853039	NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu)	PTCH1 (K1059E +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 219475	NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)	PTCH1 (T1040M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 648236	NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp)	PTCH1 (H1033D +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1021650	NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)	PTCH1 (G1009R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 1519079	NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)	PTCH1 (I1022V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 1045763	NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)	PTCH1 (R876Q +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 2678090	NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)	LOC100507346, PTCH1 (R673G +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 188150	NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)	LOC100507346, PTCH1 (N748H +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 524541	NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)	LOC100507346, PTCH1 (D710E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 945165	NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu)	LOC100507346, PTCH1 (G761E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 2160419	NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)	LOC100507346, PTCH1 (C675Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 453817	NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp)	LOC100507346, PTCH1 (E658D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 962065	NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys)	LOC100507346, PTCH1 (S641C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 950267	NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)	LOC100507346, PTCH1 (M657V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 575727	NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met)	LOC100507346, PTCH1 (T588M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 167548	NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile)	LOC100507346, PTCH1 (T565I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 409133	NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile)	LOC100507346, PTCH1 (V553I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1361406	NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala)	PTCH1 (E373A +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 524593	NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)	PTCH1 (F516V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 841181	NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)	PTCH1 (L297V +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 486199	NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)	PTCH1 (V376L +3 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 818683	NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys)	PTCH1 (S415C +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 818635	NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)	PTCH1 (H407del +3 more)	Microsatellite (inframe_deletion +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 561094	NM_000264.5(PTCH1):c.1216-1G>A	PTCH1	Single nucleotide variant (splice acceptor variant)	Gorlin syndrome +2 more	GPathogenic/Likely pathogenic
Select item 848687	NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)	PTCH1 (E323K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 851614	NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)	PTCH1 (K347R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1020070	NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr)	PTCH1 (I191T +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 524579	NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)	PTCH1 (P236R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 822873	NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)	PTCH1 (A149V +3 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1003668	NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly)	PTCH1 (D142G +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 453912	NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)	PTCH1 (P186R +3 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 219707	NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)	PTCH1 (S177P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1748943	NM_000264.5(PTCH1):c.566A>G (p.His189Arg)	PTCH1 (H38R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135903	NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)	PTCH1 (A101D +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409180	NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)	PTCH1 (G44A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 486187	NM_000264.5(PTCH1):c.322A>G (p.Ile108Val)	PTCH1 (I42V +2 more)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1423107	NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)	PTCH1 (I28V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 216372	NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)	LOC130002133, PTCH1 (P53L)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1775652	NM_000264.5(PTCH1):c.157C>T (p.Pro53Ser)	LOC130002133, PTCH1 (P53S)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1010771	NM_000264.5(PTCH1):c.155G>C (p.Arg52Pro)	LOC130002133, PTCH1 (R52P)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135093	NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)	LOC130002133, PTCH1 (R47W)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1770319	NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)	LOC130002133, PTCH1 (P45A)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 576721	NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser)	LOC130002133, PTCH1 (R41S)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 374274	NM_000264.5(PTCH1):c.114del (p.Leu39fs)	LOC130002133, PTCH1 (L39fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1435031	NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg)	LOC130002133, PTCH1 (G29R)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 647603	NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp)	LOC130002133, PTCH1 (R26W)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 216393	NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr)	LOC130002133, PTCH1 (A23T)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 2420575	NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)	LOC130002133, PTCH1	Deletion (inframe_deletion +2 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 221148	NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala)	LOC130002133, PTCH1 (G5A)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 998196	NM_001083603.3(PTCH1):c.74del (p.Pro25fs)	PTCH1 (P25fs)	Deletion (5 prime UTR variant +1 more)	PTCH1-related disorder +3 more	GUncertain significance
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 2127529	NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)	LOC130004614, SUFU (P20A)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance

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