PCDHGB4[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 2229237	NM_003736.4(PCDHGB4):c.280G>A (p.Glu94Lys)	PCDHG@, PCDHGA1 +10 more (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260765	NM_003736.4(PCDHGB4):c.326T>C (p.Val109Ala)	PCDHG@, PCDHGA1 +10 more (V109A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210070	NM_003736.4(PCDHGB4):c.389C>T (p.Thr130Met)	PCDHG@, PCDHGA1 +10 more (T130M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327936	NM_003736.4(PCDHGB4):c.442C>A (p.Pro148Thr)	PCDHG@, PCDHGA1 +10 more (P148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361604	NM_003736.4(PCDHGB4):c.719C>T (p.Pro240Leu)	PCDHG@, PCDHGA1 +10 more (P240L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210071	NM_003736.4(PCDHGB4):c.728G>A (p.Ser243Asn)	PCDHG@, PCDHGA1 +10 more (S243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210072	NM_003736.4(PCDHGB4):c.763G>A (p.Val255Met)	PCDHG@, PCDHGA1 +10 more (V255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218824	NM_003736.4(PCDHGB4):c.767A>G (p.Tyr256Cys)	PCDHG@, PCDHGA1 +10 more (Y256C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527154	NM_003736.4(PCDHGB4):c.811G>A (p.Glu271Lys)	PCDHG@, PCDHGA1 +10 more (E271K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655850	NM_003736.4(PCDHGB4):c.818T>G (p.Val273Gly)	PCDHG@, PCDHGA1 +10 more (V273G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2278534	NM_003736.4(PCDHGB4):c.824C>A (p.Ala275Asp)	PCDHG@, PCDHGA1 +10 more (A275D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608129	NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro)	PCDHG@, PCDHGA1 +10 more (S280P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210073	NM_003736.4(PCDHGB4):c.944T>C (p.Ile315Thr)	PCDHG@, PCDHGA1 +10 more (I315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531042	NM_003736.4(PCDHGB4):c.962A>G (p.Asp321Gly)	PCDHG@, PCDHGA1 +10 more (D321G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210075	NM_003736.4(PCDHGB4):c.977T>C (p.Ile326Thr)	PCDHG@, PCDHGA1 +10 more (I326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342253	NM_003736.4(PCDHGB4):c.991G>T (p.Val331Leu)	PCDHG@, PCDHGA1 +10 more (V331L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533102	NM_003736.4(PCDHGB4):c.1043A>G (p.Gln348Arg)	PCDHG@, PCDHGA1 +10 more (Q348R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322868	NM_003736.4(PCDHGB4):c.1070A>G (p.Asp357Gly)	PCDHG@, PCDHGA1 +10 more (D357G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509308	NM_003736.4(PCDHGB4):c.1082G>T (p.Gly361Val)	PCDHG@, PCDHGA1 +10 more (G361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479736	NM_003736.4(PCDHGB4):c.1113C>G (p.Asp371Glu)	PCDHG@, PCDHGA1 +10 more (D371E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493633	NM_003736.4(PCDHGB4):c.1121C>T (p.Ser374Phe)	PCDHG@, PCDHGA1 +10 more (S374F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210057	NM_003736.4(PCDHGB4):c.1222C>G (p.Leu408Val)	PCDHG@, PCDHGA1 +10 more (L408V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246424	NM_003736.4(PCDHGB4):c.1237A>G (p.Asn413Asp)	PCDHG@, PCDHGA1 +10 more (N413D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210058	NM_003736.4(PCDHGB4):c.1294T>G (p.Ser432Ala)	PCDHG@, PCDHGA1 +10 more (S432A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401735	NM_003736.4(PCDHGB4):c.1355A>G (p.Gln452Arg)	PCDHG@, PCDHGA1 +10 more (Q452R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544331	NM_003736.4(PCDHGB4):c.1369G>T (p.Val457Phe)	PCDHG@, PCDHGA1 +10 more (V457F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210059	NM_003736.4(PCDHGB4):c.1434C>G (p.Asp478Glu)	PCDHG@, PCDHGA1 +10 more (D478E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210060	NM_003736.4(PCDHGB4):c.1438G>C (p.Gly480Arg)	PCDHG@, PCDHGA1 +10 more (G480R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208905	NM_003736.4(PCDHGB4):c.1439G>T (p.Gly480Val)	PCDHG@, PCDHGA1 +10 more (G480V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543172	NM_003736.4(PCDHGB4):c.1466T>G (p.Ile489Ser)	PCDHG@, PCDHGA1 +10 more (I489S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655851	NM_003736.4(PCDHGB4):c.1500A>G (p.Ser500=)	PCDHG@, PCDHGA1 +10 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210061	NM_003736.4(PCDHGB4):c.1502C>G (p.Ser501Cys)	PCDHG@, PCDHGA1 +10 more (S501C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321768	NM_003736.4(PCDHGB4):c.1505A>C (p.Tyr502Ser)	PCDHG@, PCDHGA1 +10 more (Y502S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529100	NM_003736.4(PCDHGB4):c.1528G>A (p.Gly510Arg)	PCDHG@, PCDHGA1 +10 more (G510R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208538	NM_003736.4(PCDHGB4):c.1539C>G (p.Phe513Leu)	PCDHG@, PCDHGA1 +10 more (F513L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463184	NM_003736.4(PCDHGB4):c.1540G>A (p.Ala514Thr)	PCDHG@, PCDHGA1 +10 more (A514T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371538	NM_003736.4(PCDHGB4):c.1555G>T (p.Asp519Tyr)	PCDHG@, PCDHGA1 +10 more (D519Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210062	NM_003736.4(PCDHGB4):c.1639C>T (p.Arg547Cys)	PCDHG@, PCDHGA1 +10 more (R547C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278302	NM_003736.4(PCDHGB4):c.1652A>G (p.Asp551Gly)	PCDHG@, PCDHGA1 +10 more (D551G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2269124	NM_003736.4(PCDHGB4):c.1661A>G (p.Asn554Ser)	PCDHG@, PCDHGA1 +10 more (N554S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210063	NM_003736.4(PCDHGB4):c.1682T>A (p.Leu561Gln)	PCDHG@, PCDHGA1 +10 more (L561Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381270	NM_003736.4(PCDHGB4):c.1702G>A (p.Asp568Asn)	PCDHG@, PCDHGA1 +10 more (D568N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224543	NM_003736.4(PCDHGB4):c.1733A>G (p.His578Arg)	PCDHG@, PCDHGA1 +10 more (H578R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2655852	NM_003736.4(PCDHGB4):c.1838G>C (p.Gly613Ala)	PCDHG@, PCDHGA1 +10 more (G613A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2403760	NM_003736.4(PCDHGB4):c.1915C>A (p.Arg639Ser)	PCDHG@, PCDHGA1 +10 more (R639S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265378	NM_003736.4(PCDHGB4):c.1933C>T (p.Arg645Cys)	PCDHG@, PCDHGA1 +10 more (R645C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210064	NM_003736.4(PCDHGB4):c.1943G>A (p.Gly648Glu)	PCDHG@, PCDHGA1 +10 more (G648E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210065	NM_003736.4(PCDHGB4):c.1948C>T (p.Pro650Ser)	PCDHG@, PCDHGA1 +10 more (P650S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348113	NM_003736.4(PCDHGB4):c.1960G>A (p.Ala654Thr)	PCDHG@, PCDHGA1 +10 more (A654T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348114	NM_003736.4(PCDHGB4):c.1961C>A (p.Ala654Asp)	PCDHG@, PCDHGA1 +10 more (A654D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476723	NM_003736.4(PCDHGB4):c.2032G>C (p.Asp678His)	PCDHG@, PCDHGA1 +10 more (D678H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214307	NM_003736.4(PCDHGB4):c.2089A>C (p.Ile697Leu)	PCDHG@, PCDHGA1 +10 more (I697L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210066	NM_003736.4(PCDHGB4):c.2122G>T (p.Ala708Ser)	PCDHG@, PCDHGA1 +10 more (A708S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210067	NM_003736.4(PCDHGB4):c.2129C>T (p.Ala710Val)	PCDHG@, PCDHGA1 +10 more (A710V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543173	NM_003736.4(PCDHGB4):c.2134C>T (p.Arg712Cys)	PCDHG@, PCDHGA1 +10 more (R712C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210068	NM_003736.4(PCDHGB4):c.2135G>A (p.Arg712His)	PCDHG@, PCDHGA1 +10 more (R712H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324576	NM_003736.4(PCDHGB4):c.2246C>T (p.Ser749Phe)	PCDHG@, PCDHGA1 +10 more (S749F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535407	NM_003736.4(PCDHGB4):c.2266C>A (p.His756Asn)	PCDHG@, PCDHGA1 +10 more (H756N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244902	NM_003736.4(PCDHGB4):c.2335T>C (p.Cys779Arg)	PCDHG@, PCDHGA1 +10 more (C779R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210069	NM_003736.4(PCDHGB4):c.2338G>A (p.Gly780Ser)	PCDHG@, PCDHGA1 +10 more (G780S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337041	NM_003736.4(PCDHGB4):c.2341G>A (p.Asp781Asn)	PCDHG@, PCDHGA1 +10 more (D781N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 (missense variant +1 more)	not specified	GUncertain significance
Select item 2358400	NM_032088.2(PCDHGA8):c.601G>C (p.Asp201His)	PCDHGA4, PCDHGA5 +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)	PCDHG@, PCDHGA1 +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@, PCDHGB4 +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

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