8643[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	LOC112590795, LOC122056854 +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154768	GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3	EIF2B3, HECTD3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2638779	NM_001166292.2(PTCH2):c.3425+728T>C	PTCH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3045784	NM_003738.5(PTCH2):c.*1A>G	PTCH2	Single nucleotide variant (3 prime UTR variant +1 more)	PTCH2-related condition	GLikely benign
Select item 1429942	NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg)	PTCH2 (G1203R)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1150700	NM_003738.5(PTCH2):c.3606T>C (p.Thr1202=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1928398	NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro)	PTCH2 (A1201P)	Single nucleotide variant (missense variant +1 more)	PTCH2-related condition +1 more	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 2164574	NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)	PTCH2 (G1197fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 661021	NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu)	PTCH2 (G1197E)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 699502	NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg)	PTCH2 (G1197R)	Single nucleotide variant (missense variant +1 more)	PTCH2-related condition +1 more	GBenign
Select item 2431791	NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)	PTCH2 (S1195F)	Single nucleotide variant (missense variant +1 more)	Breast carcinoma +1 more	GUncertain significance
Select item 2397763	NM_003738.5(PTCH2):c.3583T>A (p.Ser1195Thr)	PTCH2 (S1195T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2742377	NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg)	PTCH2 (S1194R)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 580574	NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr)	PTCH2 (S1189T)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 1082048	NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1006591	NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser)	PTCH2 (P1185S)	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 570024	NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter)	PTCH2 (W1183*)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome	GUncertain significance
Select item 1052426	NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs)	PTCH2 (P1182fs)	Duplication (frameshift variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2776541	NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser)	PTCH2 (A1177S)	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2050812	NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg)	PTCH2 (H1175R)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 641723	NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys)	PTCH2 (Y1173C)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2900989	NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)	PTCH2 (L1169fs)	Duplication (frameshift variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 1488927	NM_003738.5(PTCH2):c.3506del (p.Leu1169fs)	PTCH2 (L1169fs)	Deletion (frameshift variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1475295	NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro)	PTCH2 (L1169P)	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1048946	NM_003738.5(PTCH2):c.3505del (p.Leu1169fs)	PTCH2 (L1169fs)	Deletion (frameshift variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1153142	NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 453940	NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 573292	NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu)	PTCH2 (P1167L)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2743768	NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)	PTCH2 (A1163T)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 701742	NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1062815	NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr)	PTCH2 (M1160T)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2074893	NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
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 524527	NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser)	PTCH2 (T1158S)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 702020	NM_003738.5(PTCH2):c.3471T>C (p.Thr1157=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151224	NM_003738.5(PTCH2):c.3468G>A (p.Val1156=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1621576	NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome	GLikely benign
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 1098937	NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=)	PTCH2	Single nucleotide variant (synonymous variant +1 more)	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 1691545	NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu)	PTCH2 (G1144E)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2577903	NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg)	PTCH2 (G1144R)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1441156	NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly)	PTCH2 (W1143G)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1400964	NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
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 2895647	NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)	PTCH2 (G1138E)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1103594	NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 1514249	NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg)	PTCH2 (Q1137R)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1004316	NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro)	PTCH2 (Q1137P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2919122	NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)	PTCH2 (A1135fs)	Deletion (frameshift variant)	Gorlin syndrome	GUncertain significance
Select item 839545	NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro)	PTCH2 (L1131P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2164360	NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser)	PTCH2 (P1128S)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 2713437	NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu)	PTCH2 (K1125E)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 415451	NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)	PTCH2 (I1121M)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 1697914	NM_003738.5(PTCH2):c.3358G>A (p.Val1120Met)	PTCH2 (V1120M)	Single nucleotide variant (missense variant)	not specified	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 1137609	NM_003738.5(PTCH2):c.3358-4A>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 1584427	NM_003738.5(PTCH2):c.3358-11_3358-9dup	PTCH2	Duplication (intron variant)	Gorlin syndrome	GLikely benign
Select item 1616914	NM_003738.5(PTCH2):c.3358-14G>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 1316714	NM_003738.5(PTCH2):c.3358-140C>T	PTCH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316999	NM_003738.5(PTCH2):c.3358-151C>G	PTCH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247481	NM_003738.5(PTCH2):c.3358-186G>C	PTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554427	NM_003738.5(PTCH2):c.3357+16G>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 2802694	NM_003738.5(PTCH2):c.3357+15G>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 1657950	NM_003738.5(PTCH2):c.3357+15G>A	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 1521081	NM_003738.5(PTCH2):c.3357+14C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 712672	NM_003738.5(PTCH2):c.3357+8C>T	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 6146	NM_003738.5(PTCH2):c.3357+5C>T	PTCH2	Single nucleotide variant (intron variant)	Basal cell carcinoma, somatic	GPathogenic
Select item 1718633	NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser)	PTCH2 (P1118S)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 453939	NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 453938	NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)	PTCH2 (P1116L)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 1154573	NM_003738.5(PTCH2):c.3345C>T (p.Gly1115=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 1623073	NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GBenign
Select item 2085067	NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related condition +1 more	GLikely benign
Select item 3040047	NM_003738.5(PTCH2):c.3331C>T (p.Leu1111=)	PTCH2	Single nucleotide variant (synonymous variant)	PTCH2-related condition	GLikely benign
Select item 2185428	NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro)	PTCH2 (L1110P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1053090	NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup)	PTCH2	Microsatellite (inframe_insertion)	Gorlin syndrome	GUncertain significance
Select item 2197465	NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)	PTCH2 (V1105M)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1089192	NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2289511	NM_003738.5(PTCH2):c.3311T>C (p.Leu1104Pro)	PTCH2 (L1104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2810483	NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 1084816	NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 1691539	NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met)	PTCH2 (T1096M)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 946940	NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs)	PTCH2 (T1096fs)	Duplication (frameshift variant)	Gorlin syndrome	GUncertain significance
Select item 2793632	NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala)	PTCH2 (T1096A)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 949505	NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro)	PTCH2 (L1095P)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 663044	NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu)	PTCH2 (V1094L)	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 1911566	NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu)	PTCH2 (A1091E)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1397376	NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val)	PTCH2 (A1091V)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1349671	NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr)	PTCH2 (A1091T)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1389720	NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GUncertain significance
Select item 1080223	NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
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 1041311	NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr)	PTCH2 (F1088Y)	Single nucleotide variant (missense variant)	Gorlin syndrome	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

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