PCDH19[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146264	GRCh38/hg38 Xq21.33-22.1(chrX:99011557-100309964)x1	PCDH19	Copy number loss	See cases	GPathogenic
Select item 665028	NC_000023.11:g.(?_100296257)_(100342095_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 533859	NC_000023.11:g.(?_100296257)_(100296895_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 138595	NM_001184880.2(PCDH19):c.*8T>C	PCDH19	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 956366	NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu)	PCDH19 (V1100L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 206288	NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)	PCDH19 (V1100I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1366048	NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs)	PCDH19 (I1099fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1006245	NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs)	PCDH19 (V1099fs +2 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 955455	NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup)	PCDH19	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 590086	NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)	PCDH19 (I1146T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2502081	NM_001184880.2(PCDH19):c.3432G>C (p.Lys1144Asn)	PCDH19 (K1096N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315318	NM_001184880.2(PCDH19):c.3431A>G (p.Lys1144Arg)	PCDH19 (K1096R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852688	NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)	PCDH19 (R1094C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2178913	NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)	PCDH19 (K1141R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 972572	NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu)	PCDH19 (K1141E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2794897	NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)	PCDH19 (G1092D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 206287	NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser)	PCDH19 (G1092S +2 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +2 more	GLikely benign
Select item 465305	NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)	PCDH19 (P1138S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +3 more	GBenign/Likely benign
Select item 804048	NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)	PCDH19 (K1088fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 436167	NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity
Select item 198129	NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)	PCDH19 (N1134H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 431843	NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His)	PCDH19 (R1133H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1635447	NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GLikely benign
Select item 1025541	NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met)	PCDH19 (I1080M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 533855	NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser)	PCDH19 (P1127S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 575844	NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln)	PCDH19 (E1124Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1336438	NM_001184880.2(PCDH19):c.3367C>T (p.His1123Tyr)	PCDH19 (H1075Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017162	NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)	PCDH19 (M1122L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 847099	NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu)	PCDH19 (V1074L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1718826	NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)	PCDH19 (E1071V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1476018	NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter)	PCDH19 (E1071* +2 more)	Insertion (nonsense)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 658348	NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)	PCDH19 (E1119K +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 648197	NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2899363	NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)	PCDH19 (S1118I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 206308	NM_001184880.2(PCDH19):c.3353G>A (p.Ser1118Asn)	PCDH19 (S1071N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 378327	NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly)	PCDH19 (S1118G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 138594	NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +2 more	GBenign/Likely benign
Select item 1385754	NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val)	PCDH19 (G1115V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 851727	NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)	PCDH19 (R1067H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 581970	NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro)	PCDH19 (R1114P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 844725	NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser)	PCDH19 (R1066S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 752915	NM_001184880.2(PCDH19):c.3339C>G (p.Pro1113=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028041	NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 701449	NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)	PCDH19 (R1060H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 93675	NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)	PCDH19 (R1107G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1942478	NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])	PCDH19	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 701124	NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 678986	NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)	PCDH19 (N1056S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1151631	NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 3013682	NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 575044	NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)	PCDH19 (N1100S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1397394	NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys)	PCDH19 (Q1096K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 138593	NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)	PCDH19 (L1094V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +3 more	GBenign/Likely benign
Select item 655932	NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)	PCDH19 (R1044C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2074497	NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)	PCDH19 (A1043V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1012667	NM_001184880.2(PCDH19):c.3270A>C (p.Pro1090=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096040	NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)	PCDH19 (P1090Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1433124	NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr)	PCDH19 (P1041T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 206306	NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr)	PCDH19 (A1041T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1235878	NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 650979	NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)	PCDH19 (Y1035fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 593456	NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys)	PCDH19 (Y1083C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063138	NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)	PCDH19 (V1033L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 1001962	NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met)	PCDH19 (V1033M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2869705	NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 206286	NM_001184880.2(PCDH19):c.3235C>A (p.Pro1079Thr)	PCDH19 (P1032T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 93674	NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)	PCDH19 (P1079A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +4 more	GBenign/Likely benign
Select item 701160	NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1429699	NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser)	PCDH19 (P1029S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2188065	NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)	PCDH19 (S1026C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2196876	NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1197223	NM_001184880.2(PCDH19):c.3219C>A (p.Ser1073Arg)	PCDH19 (S1025R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649344	NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1523809	NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp)	PCDH19 (H1022D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2712160	NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)	PCDH19 (L1069I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2131472	NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)	PCDH19 (L1022fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1980442	NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)	PCDH19 (L1022F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2965953	NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GLikely benign
Select item 393107	NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=)	PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 378326	NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +2 more	GLikely benign
Select item 2434606	NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)	PCDH19 (P1020R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3016597	NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)	PCDH19 (S1067Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2062866	NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)	PCDH19 (T1018fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1159771	NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1022640	NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu)	PCDH19 (P1016L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1324858	NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)	PCDH19 (S1015fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2499147	NM_001184880.2(PCDH19):c.3183G>C (p.Ala1061=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1104356	NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2088816	NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1524888	NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln)	PCDH19 (R1053Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity
Select item 589955	NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)	PCDH19 (R1053W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1055415	NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile)	PCDH19 (V1003I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1149509	NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 449713	NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val)	PCDH19 (I1043V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +2 more	GConflicting classifications of pathogenicity
Select item 206285	NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)	PCDH19 (I1043F +2 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 415289	NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GLikely benign
Select item 2996132	NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)	PCDH19 (D993N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 138592	NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GBenign/Likely benign
Select item 1505324	NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile)	PCDH19 (V1039I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1103248	NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign

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