PCDHGA8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2258010	NM_032088.2(PCDHGA8):c.31G>C (p.Gly11Arg)	PCDHG@, PCDHGA1 +11 more (G11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210001	NM_032088.2(PCDHGA8):c.37C>A (p.Leu13Met)	PCDHG@, PCDHGA1 +11 more (L13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209994	NM_032088.2(PCDHGA8):c.163G>A (p.Asp55Asn)	PCDHG@, PCDHGA1 +11 more (D55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464029	NM_032088.2(PCDHGA8):c.164A>G (p.Asp55Gly)	PCDHG@, PCDHGA1 +11 more (D55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250238	NM_032088.2(PCDHGA8):c.244G>C (p.Gly82Arg)	PCDHG@, PCDHGA1 +11 more (G82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209999	NM_032088.2(PCDHGA8):c.280G>A (p.Glu94Lys)	PCDHG@, PCDHGA1 +11 more (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210000	NM_032088.2(PCDHGA8):c.293A>C (p.Gln98Pro)	PCDHG@, PCDHGA1 +11 more (Q98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620977	NM_032088.2(PCDHGA8):c.360A>C (p.Glu120Asp)	PCDHG@, PCDHGA1 +11 more (E120D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462003	NM_032088.2(PCDHGA8):c.373G>A (p.Asp125Asn)	PCDHG@, PCDHGA1 +11 more (D125N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365164	NM_032088.2(PCDHGA8):c.383A>G (p.Asp128Gly)	PCDHG@, PCDHGA1 +11 more (D128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210002	NM_032088.2(PCDHGA8):c.442C>G (p.Pro148Ala)	PCDHG@, PCDHGA1 +11 more (P148A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288494	NM_032088.2(PCDHGA8):c.442C>T (p.Pro148Ser)	PCDHG@, PCDHGA1 +11 more (P148S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470164	NM_032088.2(PCDHGA8):c.526C>T (p.His176Tyr)	PCDHG@, PCDHGA1 +11 more (H176Y)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2358400	NM_032088.2(PCDHGA8):c.601G>C (p.Asp201His)	PCDHG@, PCDHGA1 +11 more (D201H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210003	NM_032088.2(PCDHGA8):c.640G>A (p.Ala214Thr)	PCDHG@, PCDHGA1 +11 more (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526549	NM_032088.2(PCDHGA8):c.659C>T (p.Pro220Leu)	PCDHG@, PCDHGA1 +11 more (P220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318606	NM_032088.2(PCDHGA8):c.665G>A (p.Arg222His)	PCDHG@, PCDHGA1 +11 more (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610206	NM_032088.2(PCDHGA8):c.685C>T (p.His229Tyr)	PCDHG@, PCDHGA1 +11 more (H229Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338109	NM_032088.2(PCDHGA8):c.691A>C (p.Thr231Pro)	PCDHG@, PCDHGA1 +11 more (T231P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334725	NM_032088.2(PCDHGA8):c.703A>G (p.Thr235Ala)	PCDHG@, PCDHGA1 +11 more (T235A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391219	NM_032088.2(PCDHGA8):c.710A>T (p.Asp237Val)	PCDHG@, PCDHGA1 +11 more (D237V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509131	NM_032088.2(PCDHGA8):c.718C>T (p.Pro240Ser)	PCDHG@, PCDHGA1 +11 more (P240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214478	NM_032088.2(PCDHGA8):c.719C>G (p.Pro240Arg)	PCDHG@, PCDHGA1 +11 more (P240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216717	NM_032088.2(PCDHGA8):c.730C>T (p.His244Tyr)	PCDHG@, PCDHGA1 +11 more (H244Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210004	NM_032088.2(PCDHGA8):c.806C>T (p.Pro269Leu)	PCDHG@, PCDHGA1 +11 more (P269L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335929	NM_032088.2(PCDHGA8):c.809A>T (p.Asp270Val)	PCDHGA4, PCDHGA5 +11 more (D270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210005	NM_032088.2(PCDHGA8):c.820A>G (p.Asn274Asp)	PCDHG@, PCDHGA1 +11 more (N274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371829	NM_032088.2(PCDHGA8):c.844C>T (p.Arg282Trp)	PCDHG@, PCDHGA1 +11 more (R282W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210006	NM_032088.2(PCDHGA8):c.931G>A (p.Glu311Lys)	PCDHG@, PCDHGA1 +11 more (E311K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407902	NM_032088.2(PCDHGA8):c.1045A>G (p.Ile349Val)	PCDHG@, PCDHGA1 +11 more (I349V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239804	NM_032088.2(PCDHGA8):c.1052C>G (p.Ser351Cys)	PCDHG@, PCDHGA1 +11 more (S351C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311196	NM_032088.2(PCDHGA8):c.1061G>A (p.Ser354Asn)	PCDHG@, PCDHGA1 +11 more (S354N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410379	NM_032088.2(PCDHGA8):c.1085C>T (p.Pro362Leu)	PCDHG@, PCDHGA1 +11 more (P362L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233308	NM_032088.2(PCDHGA8):c.1119C>A (p.Asp373Glu)	PCDHG@, PCDHGA1 +11 more (D373E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618179	NM_032088.2(PCDHGA8):c.1136A>G (p.Asn379Ser)	PCDHG@, PCDHGA1 +11 more (N379S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529836	NM_032088.2(PCDHGA8):c.1138G>A (p.Gly380Ser)	PCDHG@, PCDHGA1 +11 more (G380S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284078	NM_032088.2(PCDHGA8):c.1182A>C (p.Leu394Phe)	PCDHG@, PCDHGA1 +11 more (L394F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245921	NM_032088.2(PCDHGA8):c.1315G>A (p.Ala439Thr)	PCDHG@, PCDHGA1 +11 more (A439T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209990	NM_032088.2(PCDHGA8):c.1318C>G (p.Leu440Val)	PCDHG@, PCDHGA1 +11 more (L440V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540431	NM_032088.2(PCDHGA8):c.1361A>G (p.His454Arg)	PCDHG@, PCDHGA1 +11 more (H454R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530690	NM_032088.2(PCDHGA8):c.1423A>T (p.Thr475Ser)	PCDHG@, PCDHGA1 +11 more (T475S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209991	NM_032088.2(PCDHGA8):c.1474A>C (p.Thr492Pro)	PCDHG@, PCDHGA1 +11 more (T492P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209992	NM_032088.2(PCDHGA8):c.1523A>C (p.Asn508Thr)	PCDHG@, PCDHGA1 +11 more (N508T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209993	NM_032088.2(PCDHGA8):c.1556C>T (p.Ser519Phe)	PCDHG@, PCDHGA1 +11 more (S519F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348953	NM_032088.2(PCDHGA8):c.1580A>G (p.Asp527Gly)	PCDHG@, PCDHGA1 +11 more (D527G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330740	NM_032088.2(PCDHGA8):c.1678C>A (p.Pro560Thr)	PCDHG@, PCDHGA1 +11 more (P560T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520389	NM_032088.2(PCDHGA8):c.1696G>T (p.Ala566Ser)	PCDHG@, PCDHGA1 +11 more (A566S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596456	NM_032088.2(PCDHGA8):c.1739G>A (p.Arg580His)	PCDHG@, PCDHGA1 +11 more (R580H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537839	NM_032088.2(PCDHGA8):c.1840C>T (p.Pro614Ser)	PCDHG@, PCDHGA1 +11 more (P614S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357585	NM_032088.2(PCDHGA8):c.1841C>G (p.Pro614Arg)	PCDHG@, PCDHGA1 +11 more (P614R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320756	NM_032088.2(PCDHGA8):c.1841C>T (p.Pro614Leu)	PCDHG@, PCDHGA1 +11 more (P614L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604789	NM_032088.2(PCDHGA8):c.1852T>G (p.Ser618Ala)	PCDHG@, PCDHGA1 +11 more (S618A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610828	NM_032088.2(PCDHGA8):c.1853C>T (p.Ser618Leu)	PCDHG@, PCDHGA1 +11 more (S618L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604790	NM_032088.2(PCDHGA8):c.1861C>G (p.Leu621Val)	PCDHG@, PCDHGA1 +11 more (L621V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604791	NM_032088.2(PCDHGA8):c.1862T>A (p.Leu621Gln)	PCDHG@, PCDHGA1 +11 more (L621Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535356	NM_032088.2(PCDHGA8):c.1892C>T (p.Ala631Val)	PCDHG@, PCDHGA1 +11 more (A631V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229460	NM_032088.2(PCDHGA8):c.1960C>T (p.Leu654Phe)	PCDHG@, PCDHGA1 +11 more (L654F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406056	NM_032088.2(PCDHGA8):c.2024T>G (p.Leu675Trp)	PCDHG@, PCDHGA1 +11 more (L675W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209995	NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg)	PCDHG@, PCDHGA1 +11 more (P684R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231160	NM_032088.2(PCDHGA8):c.2206C>G (p.Pro736Ala)	PCDHG@, PCDHGA1 +11 more (P736A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209996	NM_032088.2(PCDHGA8):c.2246T>C (p.Phe749Ser)	PCDHG@, PCDHGA1 +11 more (F749S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315981	NM_032088.2(PCDHGA8):c.2257T>G (p.Tyr753Asp)	PCDHG@, PCDHGA1 +11 more (Y753D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352532	NM_032088.2(PCDHGA8):c.2261C>T (p.Ser754Phe)	PCDHG@, PCDHGA1 +11 more (S754F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456314	NM_032088.2(PCDHGA8):c.2266G>A (p.Glu756Lys)	PCDHG@, PCDHGA1 +11 more (E756K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209997	NM_032088.2(PCDHGA8):c.2279C>T (p.Thr760Ile)	PCDHG@, PCDHGA1 +11 more (T760I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209998	NM_032088.2(PCDHGA8):c.2420G>A (p.Gly807Asp)	PCDHG@, PCDHGA1 +11 more (G807D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476568	NM_018925.3(PCDHGB5):c.8G>A (p.Ser3Asn)	PCDHG@, PCDHGA1 +12 more (S3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617566	NM_018925.3(PCDHGB5):c.29G>A (p.Arg10Gln)	PCDHG@, PCDHGA1 +12 more (R10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210081	NM_018925.3(PCDHGB5):c.79C>T (p.Pro27Ser)	PCDHG@, PCDHGA1 +12 more (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327467	NM_018925.3(PCDHGB5):c.277G>A (p.Glu93Lys)	PCDHG@, PCDHGA1 +12 more (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389604	NM_018925.3(PCDHGB5):c.392C>G (p.Pro131Arg)	PCDHG@, PCDHGA1 +12 more (P131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210080	NM_018925.3(PCDHGB5):c.425T>C (p.Ile142Thr)	PCDHG@, PCDHGA1 +12 more (I142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210082	NM_018925.3(PCDHGB5):c.813G>C (p.Glu271Asp)	PCDHG@, PCDHGA1 +12 more (E271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210083	NM_018925.3(PCDHGB5):c.835T>A (p.Tyr279Asn)	PCDHG@, PCDHGA1 +12 more (Y279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466532	NM_018925.3(PCDHGB5):c.845A>G (p.Tyr282Cys)	PCDHG@, PCDHGA1 +12 more (Y282C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341695	NM_018925.3(PCDHGB5):c.862T>A (p.Phe288Ile)	PCDHG@, PCDHGA1 +12 more (F288I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533824	NM_018925.3(PCDHGB5):c.1022C>T (p.Pro341Leu)	PCDHG@, PCDHGA1 +12 more (P341L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362947	NM_018925.3(PCDHGB5):c.1042C>G (p.Leu348Val)	PCDHG@, PCDHGA1 +12 more (L348V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303041	NM_018925.3(PCDHGB5):c.1070T>C (p.Val357Ala)	PCDHG@, PCDHGA1 +12 more (V357A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535357	NM_018925.3(PCDHGB5):c.1104T>G (p.His368Gln)	PCDHG@, PCDHGA1 +12 more (H368Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553231	NM_018925.3(PCDHGB5):c.1153G>A (p.Glu385Lys)	PCDHG@, PCDHGA1 +12 more (E385K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363245	NM_018925.3(PCDHGB5):c.1232C>T (p.Thr411Ile)	PCDHG@, PCDHGA1 +12 more (T411I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210076	NM_018925.3(PCDHGB5):c.1234C>T (p.Pro412Ser)	PCDHG@, PCDHGA1 +12 more (P412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259617	NM_018925.3(PCDHGB5):c.1310A>T (p.His437Leu)	PCDHG@, PCDHGA1 +12 more (H437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455260	NM_018925.3(PCDHGB5):c.1400T>C (p.Ile467Thr)	PCDHG@, PCDHGA1 +12 more (I467T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324355	NM_018925.3(PCDHGB5):c.1441G>A (p.Gly481Ser)	PCDHG@, PCDHGA1 +12 more (G481S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210077	NM_018925.3(PCDHGB5):c.1454A>T (p.Tyr485Phe)	PCDHG@, PCDHGA1 +12 more (Y485F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262512	NM_018925.3(PCDHGB5):c.1466C>A (p.Ala489Asp)	PCDHG@, PCDHGA1 +12 more (A489D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491479	NM_018925.3(PCDHGB5):c.1507A>G (p.Met503Val)	PCDHG@, PCDHGA1 +12 more (M503V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599875	NM_018925.3(PCDHGB5):c.1511G>A (p.Ser504Asn)	PCDHG@, PCDHGA1 +12 more (S504N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599876	NM_018925.3(PCDHGB5):c.1512C>A (p.Ser504Arg)	PCDHG@, PCDHGA1 +12 more (S504R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264187	NM_018925.3(PCDHGB5):c.1634G>A (p.Arg545His)	PCDHG@, PCDHGA1 +12 more (R545H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514721	NM_018925.3(PCDHGB5):c.1681C>T (p.Pro561Ser)	PCDHGB2, PCDHGB3 +12 more (P561S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342589	NM_018925.3(PCDHGB5):c.1684G>T (p.Ala562Ser)	PCDHG@, PCDHGA1 +12 more (A562S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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