ClinVar for Gene (Select 8643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377794	NM_003738.5(PTCH2):c.1541T>C (p.Leu514Pro)	PTCH2 (L514P)	Single nucleotide variant (missense variant)	Basal cell nevus syndrome 1	GUncertain significance
Select item 3353348	NM_003738.5(PTCH2):c.2371+10G>A	PTCH2	Single nucleotide variant (intron variant)	PTCH2-related disorder	GLikely benign
Select item 3345676	NM_003738.5(PTCH2):c.933G>A (p.Leu311=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related disorder	GLikely benign
Select item 3345653	NM_003738.5(PTCH2):c.1765G>T (p.Val589Leu)	PTCH2 (V589L)	Single nucleotide variant (missense variant)	PTCH2-related disorder	GUncertain significance
Select item 3311211	NM_003738.5(PTCH2):c.2771T>C (p.Val924Ala)	PTCH2 (V924A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311210	NM_003738.5(PTCH2):c.1756G>A (p.Asp586Asn)	PTCH2 (D586N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311209	NM_003738.5(PTCH2):c.2642C>A (p.Pro881Gln)	PTCH2 (P881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311208	NM_003738.5(PTCH2):c.1117C>G (p.Gln373Glu)	PTCH2 (Q373E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3240228	NM_003738.5(PTCH2):c.2792G>T (p.Arg931Leu)	PTCH2 (R931L)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3220615	NM_003738.5(PTCH2):c.831C>A (p.His277Gln)	PTCH2 (H277Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220614	NM_003738.5(PTCH2):c.826G>A (p.Ala276Thr)	PTCH2 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220613	NM_003738.5(PTCH2):c.565C>T (p.Leu189Phe)	PTCH2 (L189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220612	NM_003738.5(PTCH2):c.490G>A (p.Gly164Arg)	PTCH2 (G164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220610	NM_003738.5(PTCH2):c.2579T>A (p.Leu860Gln)	PTCH2 (L860Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220608	NM_003738.5(PTCH2):c.2231A>C (p.Gln744Pro)	PTCH2 (Q744P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220605	NM_003738.5(PTCH2):c.1016A>C (p.His339Pro)	PTCH2 (H339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069013	NM_003738.5(PTCH2):c.977G>A (p.Arg326His)	PTCH2 (R326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053185	NM_003738.5(PTCH2):c.1137C>A (p.Ser379=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related disorder	GLikely benign
Select item 3048813	NM_003738.5(PTCH2):c.2560G>C (p.Glu854Gln)	PTCH2 (E854Q)	Single nucleotide variant (missense variant)	PTCH2-related disorder	GUncertain significance
Select item 3045784	NM_003738.5(PTCH2):c.*1A>G	PTCH2	Single nucleotide variant (3 prime UTR variant +1 more)	PTCH2-related disorder	GLikely benign
Select item 3045247	NM_003738.5(PTCH2):c.2914C>T (p.Leu972=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related disorder	GLikely benign
Select item 3040047	NM_003738.5(PTCH2):c.3331C>T (p.Leu1111=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related disorder	GLikely benign
Select item 3023514	NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GUncertain significance
Select item 3014152	NM_003738.5(PTCH2):c.1371+19del	PTCH2	Deletion (intron variant)	Gorlin syndrome	GLikely benign
Select item 3010333	NM_003738.5(PTCH2):c.2371+19G>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 3004817	NM_003738.5(PTCH2):c.1593G>T (p.Ala531=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2999223	NM_003738.5(PTCH2):c.73-19C>G	PTCH2	Single nucleotide variant (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 2991941	NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)	PTCH2 (P618L)	Single nucleotide variant (missense variant)	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 2981533	NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)	PTCH2 (L692F)	Single nucleotide variant (missense variant)	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 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 2960302	NM_003738.5(PTCH2):c.1084-14C>T	PTCH2	Single nucleotide variant (intron variant)	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 2919192	NM_003738.5(PTCH2):c.1464+16C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2919172	NM_003738.5(PTCH2):c.1710-16T>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2919122	NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)	PTCH2 (A1135fs)	Deletion (frameshift variant)	Gorlin syndrome	GUncertain significance
Select item 2918838	NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)	PTCH2 (R397C)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2918278	NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu)	PTCH2 (P950L)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2918002	NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp)	PTCH2 (G1199D)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2917722	NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)	PTCH2 (V468M)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2917673	NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)	PTCH2 (E314Q)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2915135	NM_003738.5(PTCH2):c.3114+20G>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2914635	NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr)	PTCH2 (A930T)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2913146	NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr)	PTCH2 (A511T)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2913060	NM_003738.5(PTCH2):c.375C>T (p.Asn125=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2911193	NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)	PTCH2 (I970V)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2911098	NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile)	PTCH2 (T1158I)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2907237	NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)	PTCH2 (R557H)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2906680	NM_003738.5(PTCH2):c.88C>G (p.Leu30Val)	PTCH2 (L30V)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2903885	NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln)	PTCH2 (R1047Q)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2902104	NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp)	PTCH2 (R931W)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2901919	NM_003738.5(PTCH2):c.2214G>A (p.Glu738=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2900989	NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)	PTCH2 (L1169fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 2900468	NM_003738.5(PTCH2):c.456-18T>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2899970	NM_003738.5(PTCH2):c.2580G>A (p.Leu860=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2898642	NM_003738.5(PTCH2):c.1068G>A (p.Gln356=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2898338	NM_003738.5(PTCH2):c.1464+19G>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2898311	NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp)	PTCH2 (R961W)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2898261	NM_003738.5(PTCH2):c.1591-6C>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2897654	NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His)	PTCH2 (Y890H)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2895647	NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)	PTCH2 (G1138E)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2895646	NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala)	PTCH2 (G1139A)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2895107	NM_003738.5(PTCH2):c.2885G>A (p.Arg962His)	PTCH2 (R962H)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2894261	NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)	PTCH2 (A21T)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2893187	NM_003738.5(PTCH2):c.525+11T>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2892747	NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr)	PTCH2 (A203T)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2891521	NM_003738.5(PTCH2):c.2745T>A (p.Arg915=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2890985	NM_003738.5(PTCH2):c.525+6T>G	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GUncertain significance
Select item 2889577	NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)	PTCH2 (E854K)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2888852	NM_003738.5(PTCH2):c.21C>G (p.Leu7=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2887301	NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)	PTCH2 (F472L)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2887018	NM_003738.5(PTCH2):c.1216-5C>G	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2884732	NM_003738.5(PTCH2):c.3042G>T (p.Leu1014=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2882759	NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe)	PTCH2 (L984F)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2882043	NM_003738.5(PTCH2):c.526-16G>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2881557	NM_003738.5(PTCH2):c.528G>A (p.Met176Ile)	PTCH2 (M176I)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2878608	NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)	PTCH2 (A119T)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2869457	NM_003738.5(PTCH2):c.1464+10T>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2869428	NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys)	PTCH2 (R120C)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2861224	NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys)	PTCH2 (R779C)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2853447	NM_003738.5(PTCH2):c.936-18C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2850540	NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA	PTCH2	Insertion (intron variant)	Gorlin syndrome	GUncertain significance
Select item 2848208	NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)	PTCH2 (L136F)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2844341	NM_003738.5(PTCH2):c.3258-7C>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GUncertain significance
Select item 2837999	NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met)	PTCH2 (L770M)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2836821	NM_003738.5(PTCH2):c.3273G>A (p.Ala1091=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2836808	NM_003738.5(PTCH2):c.526-8C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2832585	NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly)	PTCH2 (R665G)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2832399	NM_003738.5(PTCH2):c.3358-3C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GUncertain significance
Select item 2831863	NM_003738.5(PTCH2):c.3174A>G (p.Thr1058=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign

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