ClinVar for Gene (Select 57526) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235089	NM_001184880.2(PCDH19):c.898del (p.Val300fs)	PCDH19 (V300fs)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 3235088	NM_001184880.2(PCDH19):c.1387C>T (p.Gln463Ter)	PCDH19 (Q463*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 3235086	NM_001184880.2(PCDH19):c.1792delinsTT (p.Gly598fs)	PCDH19 (G598fs)	Indel (frameshift variant)	Seizure	GPathogenic
Select item 3209200	NM_001184880.2(PCDH19):c.431C>A (p.Pro144His)	PCDH19 (P144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209199	NM_001184880.2(PCDH19):c.2890C>A (p.Leu964Ile)	PCDH19 (L916I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209198	NM_001184880.2(PCDH19):c.2206T>C (p.Cys736Arg)	PCDH19 (C736R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209197	NM_001184880.2(PCDH19):c.2135C>G (p.Thr712Ser)	PCDH19 (T712S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209196	NM_001184880.2(PCDH19):c.1805G>A (p.Arg602Gln)	PCDH19 (R602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209195	NM_001184880.2(PCDH19):c.1648C>T (p.Arg550Trp)	PCDH19 (R550W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067959	NM_001184880.2(PCDH19):c.2920C>T (p.Arg974Trp)	PCDH19 (R926W +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3063707	NM_001184880.2(PCDH19):c.986_987del (p.His329fs)	PCDH19 (H329fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3047503	NM_001184880.2(PCDH19):c.1878C>A (p.Thr626=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related condition	GLikely benign
Select item 3032816	NM_001184880.2(PCDH19):c.1044G>A (p.Leu348=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related condition	GLikely benign
Select item 3027446	NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)	PCDH19 (Q317E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3024178	NC_000023.11:g.(?_100366731)_(100369616_?)del	PCDH19	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024069	NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 3022800	NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 3022034	NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)	PCDH19 (N621S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3021837	NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 3018224	NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)	PCDH19 (V675M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	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 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 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 3008888	NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)	PCDH19 (A13T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3008559	NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 3001850	NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)	PCDH19 (H203Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3001619	NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)	LOC125467768, PCDH19 (V788A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3001561	NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)	PCDH19 (K635R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2996895	NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2996893	NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	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 2991176	NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2978427	NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)	PCDH19 (N254K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2967052	NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2966996	NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)	PCDH19 (N282D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2966875	NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2965953	NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2964915	NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)	PCDH19 (T146M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 2961159	NM_001184880.2(PCDH19):c.2617-19T>A	PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2920412	NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2920090	NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)	PCDH19 (A573G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2919447	NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)	LOC125467768, PCDH19 (Y769H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2916025	NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)	PCDH19 (H861R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2903185	NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2902665	NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)	PCDH19 (G223R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2901407	NM_001184880.2(PCDH19):c.336C>T (p.Ile112=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2900505	NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2899861	NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)	PCDH19 (D1001V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2899603	NM_001184880.2(PCDH19):c.210C>T (p.His70=)	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 2898738	NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)	PCDH19 (P494L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2896451	NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2895197	NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)	PCDH19 (T440I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2891886	NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)	PCDH19 (P456S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2884842	NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr)	PCDH19 (S438Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2884423	NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)	PCDH19 (P253H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2882354	NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2882055	NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)	PCDH19 (P97L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2872595	NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)	PCDH19 (P252S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2871243	NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2870827	NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)	PCDH19 (D959A +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 2864815	NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)	PCDH19 (V163M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2861959	NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)	PCDH19 (S741W)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2861955	NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)	PCDH19 (G538D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2859953	NM_001184880.2(PCDH19):c.2848+1G>A	PCDH19	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2859639	NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)	PCDH19 (G513fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2859202	NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)	PCDH19 (D976N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2856323	NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)	PCDH19 (D974G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2855379	NM_001184880.2(PCDH19):c.1500del (p.Met500fs)	PCDH19 (M500fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2853644	NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)	PCDH19 (T572fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2853342	NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)	PCDH19 (M110I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2852648	NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)	PCDH19 (Y471C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2852518	NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)	PCDH19 (G690fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2850641	NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2849951	NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)	LOC125467768, PCDH19 (H847D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2848622	NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)	PCDH19 (N570*)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2847943	NM_001184880.2(PCDH19):c.2148-8C>T	PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2847501	NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)	PCDH19 (P127fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2844211	NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)	PCDH19 (K455R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2841496	NM_001184880.2(PCDH19):c.2147+12T>C	PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2840795	NM_001184880.2(PCDH19):c.478del (p.Ser160fs)	PCDH19 (S160fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2839647	NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2838414	NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2829211	NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2829184	NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)	PCDH19 (E140K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2828928	NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2827834	NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2821983	NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)	PCDH19	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2820312	NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)	PCDH19 (M895T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2818097	NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)	PCDH19 (L71I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2816530	NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)	PCDH19 (F277del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2814395	NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)	LOC125467768, PCDH19 (K756fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2813534	NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)	PCDH19 (V974A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2809780	NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)	PCDH19 (D427N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2809293	NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2808666	NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2807133	NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)	PCDH19 (I368M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance

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