Related gene-specific medical variations for Gene (Select 57526) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383060	NM_001184880.2(PCDH19):c.2675+1G>C	PCDH19	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 3366293	NM_001184880.2(PCDH19):c.2261_2262del (p.Glu754fs)	LOC125467768, PCDH19 (E754fs)	Microsatellite (frameshift variant +1 more)	Complex cortical dysplasia with other brain malformations 7 +1 more	GConflicting classifications of pathogenicity
Select item 3362466	NM_001184880.2(PCDH19):c.1757T>C (p.Leu586Pro)	PCDH19 (L586P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3362332	NM_001184880.2(PCDH19):c.2893G>C (p.Gly965Arg)	PCDH19 (G917R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 3362327	NM_001184880.2(PCDH19):c.2705A>G (p.Asn902Ser)	PCDH19 (N854S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 3362106	NM_001184880.2(PCDH19):c.3277G>C (p.Asp1093His)	PCDH19 (D1045H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362045	NM_001184880.2(PCDH19):c.1639G>A (p.Ala547Thr)	PCDH19 (A547T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362001	NM_001184880.2(PCDH19):c.2561_2563dup (p.Asn854_Ser855insAsn)	PCDH19	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3359645	NM_001184880.2(PCDH19):c.1804C>G (p.Arg602Gly)	PCDH19 (R602G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359025	NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)	PCDH19 (E827* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 3304604	NM_001184880.2(PCDH19):c.2327G>A (p.Ser776Asn)	LOC125467768, PCDH19 (S729N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244959	NC_000023.10:g.(?_99654182)_(99661939_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 3244948	NC_000023.10:g.(?_99640151)_(99663517_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 3244937	NC_000023.10:g.(?_99661873)_(99700255_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 3244926	NC_000023.10:g.(?_99596881)_(99663595_?)dup	PCDH19	Duplication	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3244916	NC_000023.10:g.(?_99657502)_(99663595_?)dup	PCDH19	Duplication	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3244904	NC_000023.10:g.(?_99551275)_(99551893_?)dup	PCDH19	Duplication	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 3244893	NC_000023.10:g.(?_99596881)_(99663595_?)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
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 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 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 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 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 2796646	NM_001184880.2(PCDH19):c.2288+16C>T	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2789888	NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys)	LOC125467768, PCDH19 (E754K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2767704	NM_001184880.2(PCDH19):c.2449dup (p.His817fs)	LOC125467768, PCDH19 (H770fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2764521	NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)	LOC125467768, PCDH19 (Y769* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2746313	NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)	LOC125467768, PCDH19 (I865fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2740839	NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)	LOC125467768, PCDH19 (N765S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2692593	NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del)	LOC125467768, PCDH19 (E748del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2689669	NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)	PCDH19 (P363T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2684287	NM_001184880.2(PCDH19):c.1018A>C (p.Asn340His)	PCDH19 (N340H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582513	NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)	PCDH19	Deletion (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2574121	NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)	LOC125467768, PCDH19	Deletion (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2571796	NM_001184880.2(PCDH19):c.2275C>A (p.Leu759Ile)	LOC125467768, PCDH19 (L759I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503115	NM_001184880.2(PCDH19):c.2495T>C (p.Phe832Ser)	LOC125467768, PCDH19 (F785S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434607	NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)	PCDH19 (I710M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
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 2434605	NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)	PCDH19 (D1001N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2434604	NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)	PCDH19 (T17M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2434602	NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)	PCDH19 (G686S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2430066	NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)	PCDH19 (V506I)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2177323	NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)	LOC125467768, PCDH19 (R740H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2174612	NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2165381	NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2158361	NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2151704	NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)	LOC125467768, PCDH19 (Q813E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2142364	NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2138211	NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)	LOC125467768, PCDH19 (S768P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2135912	NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)	LOC125467768, PCDH19 (P861fs +1 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2135303	NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)	LOC125467768, PCDH19 (N753H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2134465	NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 2132587	NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys)	LOC125467768, PCDH19 (T753K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2090657	NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)	LOC125467768, PCDH19 (Q771* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2089947	NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)	LOC125467768, PCDH19 (P869L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2010826	NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)	LOC125467768, PCDH19 (K733I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2008360	NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)	LOC125467768, PCDH19 (N784fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2002870	NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)	LOC125467768, PCDH19 (Q791fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2002597	NM_001184880.2(PCDH19):c.2288+9G>C	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1991228	NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)	LOC125467768, PCDH19 (N787D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1952634	NM_001184880.2(PCDH19):c.2230C>T (p.Pro744Ser)	LOC125467768, PCDH19 (P744S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1926732	NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1810254	NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)	LOC125467768, PCDH19 (Q809* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1807482	NM_001184880.2(PCDH19):c.661A>G (p.Thr221Ala)	PCDH19 (T221A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803051	NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)	PCDH19 (Y576*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1791690	NM_001184880.2(PCDH19):c.2466C>T (p.Pro822=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1790225	NM_001184880.2(PCDH19):c.2367A>G (p.Val789=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1707510	NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del	PCDH19	Deletion	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1701755	NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp)	PCDH19 (S67W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1701751	NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro)	PCDH19 (T588P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1701068	NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys)	LOC125467768, PCDH19 (R794C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1695337	NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter)	PCDH19 (Q385*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1659694	NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1607268	NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1604624	NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GLikely benign
Select item 1526830	GRCh37/hg19 Xq22.1(chrX:99398853-99802950)	PCDH19	Copy number loss	not specified	GPathogenic
Select item 1512793	NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu)	LOC125467768, PCDH19 (K751E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1481744	NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu)	LOC125467768, PCDH19 (D750E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1454530	NM_001184880.2(PCDH19):c.2558del (p.Phe853fs)	LOC125467768, PCDH19 (F806fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1452927	NM_001184880.2(PCDH19):c.2451C>T (p.His817=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1439925	NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp)	LOC125467768, PCDH19 (N790D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1424483	NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His)	LOC125467768, PCDH19 (Q860H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1419045	NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala)	LOC125467768, PCDH19 (E794A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1414354	NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter)	LOC125467768, PCDH19 (E755*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1384505	NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile)	LOC125467768, PCDH19 (L764I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1371886	NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala)	LOC125467768, PCDH19 (E755A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1366293	NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser)	LOC125467768, PCDH19 (P858S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1356451	NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys)	LOC125467768, PCDH19 (E747K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1338771	NM_001184880.2(PCDH19):c.95A>T (p.Glu32Val)	PCDH19 (E32V)	Single nucleotide variant (missense variant)	PCDH19-related epilespy	GLikely pathogenic
Select item 1324859	NM_001184880.2(PCDH19):c.1556del (p.Arg519fs)	PCDH19 (R519fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1324857	NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter)	PCDH19 (Y204*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1320065	NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs)	LOC125467768, PCDH19 (D750fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1311886	NM_001184880.2(PCDH19):c.2507A>T (p.Glu836Val)	LOC125467768, PCDH19 (E789V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187694	NM_001184880.2(PCDH19):c.2288+145_2288+147del	LOC125467768, PCDH19	Deletion (intron variant)	not provided	GLikely benign
Select item 1184939	NM_001184880.2(PCDH19):c.1565del (p.Asn522fs)	PCDH19 (N522fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1155881	NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1114025	NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1102751	NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9	GLikely benign
Select item 1101479	NM_001184880.2(PCDH19):c.2289-4A>G	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 9	GLikely benign

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