ClinVar for MedGen (Select 2554) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245056	NC_000009.11:g.(?_98240426)_(98242927_?)del	PTCH1	Deletion	Gorlin syndrome	GLikely pathogenic
Select item 3245055	NC_000009.11:g.(?_98211526)_(98245954_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245054	NC_000009.11:g.(?_98211411)_(98213952_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245053	NC_000009.11:g.(?_98209294)_(98219532_?)del	PTCH1	Deletion	Gorlin syndrome	GUncertain significance
Select item 3245052	NC_000009.11:g.(?_98209431)_(98224833_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245051	NC_000009.11:g.(?_98231088)_(98232163_?)del	PTCH1	Deletion	Gorlin syndrome	GLikely pathogenic
Select item 3245050	NC_000009.11:g.(?_97863989)_(98239149_?)dup	FANCC, PTCH1	Duplication	Gorlin syndrome	GUncertain significance
Select item 3245049	NC_000009.11:g.(?_98240327)_(98279100_?)dup	PTCH1	Duplication	Gorlin syndrome	GUncertain significance
Select item 3245047	NC_000009.11:g.(?_98220285)_(98222075_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245046	NC_000009.11:g.(?_98221862)_(98226337_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245045	NC_000009.11:g.(?_98268679)_(98268891_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245044	NC_000009.11:g.(?_98229388)_(98229717_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245043	NC_000009.11:g.(?_97863989)_(98270643_?)del	FANCC, PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3244802	NC_000010.10:g.(?_104375015)_(104392580_?)dup	SUFU	Duplication	Gorlin syndrome +1 more	GUncertain significance
Select item 3244801	NC_000010.10:g.(?_104263910)_(104269080_?)dup	SUFU	Duplication	Gorlin syndrome +1 more	GUncertain significance
Select item 3244800	NC_000010.10:g.(?_104356887)_(104389912_?)del	SUFU	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 3244799	NC_000010.10:g.(?_104268906)_(104269080_?)del	SUFU	Deletion	Gorlin syndrome +1 more	GUncertain significance
Select item 3244798	NC_000010.10:g.(?_104376609)_(104386730_?)del	SUFU	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 3244797	NC_000010.10:g.(?_104263910)_(104389912_?)del	SUFU	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 3023514	NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GUncertain significance
Select item 3022768	NM_000264.5(PTCH1):c.633A>G (p.Thr211=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 3020763	NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)	PTCH1 (L111V +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3020606	NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)	PTCH1 (K391Q +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3019197	NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)	LOC100507346, PTCH1 (R558T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3018608	NM_000264.5(PTCH1):c.202-12C>T	LOC130002132, PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3016644	NM_000264.5(PTCH1):c.14G>A (p.Gly5Asp)	LOC130002133, PTCH1 (G5D)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome	GUncertain significance
Select item 3016358	NM_000264.5(PTCH1):c.201+11G>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3015536	NM_000264.5(PTCH1):c.222A>G (p.Lys74=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Gorlin syndrome	GLikely benign
Select item 3015043	NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)	LOC100507346, PTCH1 (Y488C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3014725	NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)	PTCH1 (E841G +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3014720	NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)	PTCH1 (A906G +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3014152	NM_003738.5(PTCH2):c.1371+19del	PTCH2	Deletion (intron variant)	Gorlin syndrome	GLikely benign
Select item 3014073	NM_000264.5(PTCH1):c.1215+9A>G	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3012556	NM_000264.5(PTCH1):c.1847+1G>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 3011866	NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 3010717	NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr)	PTCH1 (A953T +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3010333	NM_003738.5(PTCH2):c.2371+19G>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3009144	NM_000264.5(PTCH1):c.4282G>A (p.Glu1428Lys)	PTCH1 (E1277K +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3008563	NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)	PTCH1 (S1325P +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3007585	NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)	PTCH1 (T160S +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3007427	NM_000264.5(PTCH1):c.747-16C>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3007069	NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)	PTCH1 (M1356I +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3004817	NM_003738.5(PTCH2):c.1593G>T (p.Ala531=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 3002796	NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)	PTCH1 (P1124S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3002785	NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)	LOC100507346, PTCH1 (V686L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 3001823	NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)	PTCH1 (G194S +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 3001239	NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)	PTCH1 (T313N +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2999839	NM_000264.5(PTCH1):c.1550T>C (p.Leu517Pro)	PTCH1 (L366P +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2999223	NM_003738.5(PTCH2):c.73-19C>G	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2997459	NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)	PTCH1 (G250S +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2996986	NM_000264.5(PTCH1):c.3169-18C>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2996170	NM_000264.5(PTCH1):c.2131C>T (p.Leu711=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2995913	NM_000264.5(PTCH1):c.201+16_201+19del	PTCH1	Microsatellite (intron variant)	Gorlin syndrome	GLikely benign
Select item 2994122	NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys)	PTCH2 (Y785C)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2992293	NM_000264.5(PTCH1):c.1848-10C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2992086	NM_000264.5(PTCH1):c.3449+17A>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2991941	NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)	PTCH2 (P618L)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2991916	NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)	PTCH1 (C56R)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome	GUncertain significance
Select item 2990642	NM_000264.5(PTCH1):c.3307-6G>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2988423	NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)	PTCH1 (K822N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2988112	NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser)	PTCH2 (R754S)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2987294	NM_003738.5(PTCH2):c.195C>T (p.Ala65=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2986439	NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu)	PTCH2 (G859E)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2985404	NM_003738.5(PTCH2):c.1835A>C (p.His612Pro)	PTCH2 (H612P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2983730	NM_003738.5(PTCH2):c.659dup (p.Leu221fs)	PTCH2 (L221fs)	Duplication (frameshift variant)	Gorlin syndrome	GUncertain significance
Select item 2982810	NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)	PTCH1 (L1020M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2981927	NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)	PTCH1 (S1157A +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2981573	NM_000264.5(PTCH1):c.1504-4G>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2981533	NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)	PTCH2 (L692F)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2981455	NM_000264.5(PTCH1):c.2262C>T (p.Ile754=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2978888	NM_000264.5(PTCH1):c.394+15del	PTCH1	Deletion (intron variant)	Gorlin syndrome	GLikely benign
Select item 2978780	NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)	PTCH1 (E1288D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2978200	NM_003738.5(PTCH2):c.1216-15C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2977899	NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)	PTCH2 (A1145T)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2976077	NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)	PTCH1 (A1285V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2975297	NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Gorlin syndrome	GLikely benign
Select item 2975202	NM_000264.5(PTCH1):c.1602+19A>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2970839	NM_000264.5(PTCH1):c.2888-9T>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2970803	NM_000264.5(PTCH1):c.1348-17del	PTCH1	Deletion (intron variant)	Gorlin syndrome	GBenign
Select item 2969099	NM_000264.5(PTCH1):c.1503+16T>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2966108	NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Gorlin syndrome	GLikely benign
Select item 2965270	NM_000264.5(PTCH1):c.201+12A>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2964983	NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe)	PTCH2 (L1101F)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2964638	NM_003738.5(PTCH2):c.1709+11C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GBenign
Select item 2962684	NM_003738.5(PTCH2):c.936-12C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2961771	NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2960302	NM_003738.5(PTCH2):c.1084-14C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2959078	NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)	PTCH1 (Q1235R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2958930	NM_000264.5(PTCH1):c.2037T>C (p.Ala679=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2957926	NM_000264.5(PTCH1):c.1749C>T (p.Phe583=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2956797	NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu)	PTCH2 (S439L)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2955076	NM_003738.5(PTCH2):c.2379G>C (p.Gln793His)	PTCH2 (Q793H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2954935	NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)	PTCH1 (C539F +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2954932	NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GBenign
Select item 2954393	NM_016169.4(SUFU):c.669G>C (p.Leu223=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 2954358	NM_016169.4(SUFU):c.969C>G (p.Val323=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 2954357	NM_016169.4(SUFU):c.711C>T (p.Asp237=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 2954341	NM_016169.4(SUFU):c.1366-15T>A	SUFU	Single nucleotide variant (intron variant)	Medulloblastoma +1 more	GLikely benign
Select item 2954211	NM_016169.4(SUFU):c.624A>C (p.Leu208=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 2954028	NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)	SUFU (F107C)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance

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