PCDHGB6[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 2253249	NM_018926.3(PCDHGB6):c.83C>T (p.Thr28Ile)	PCDHG@, PCDHGA1 +14 more (T28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210096	NM_018926.3(PCDHGB6):c.92A>G (p.Glu31Gly)	PCDHG@, PCDHGA1 +14 more (E31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284117	NM_018926.3(PCDHGB6):c.107C>T (p.Ser36Leu)	PCDHG@, PCDHGA1 +14 more (S36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621467	NM_018926.3(PCDHGB6):c.119A>G (p.Glu40Gly)	PCDHG@, PCDHGA1 +14 more (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716118	NM_018926.3(PCDHGB6):c.199C>A (p.Arg67=)	PCDHGA1, PCDHGA2 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3210088	NM_018926.3(PCDHGB6):c.202G>C (p.Val68Leu)	PCDHG@, PCDHGA1 +14 more (V68L)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2390768	NM_018926.3(PCDHGB6):c.244G>A (p.Gly82Arg)	LOC129994855, PCDHG@ +15 more (G82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305045	NM_018926.3(PCDHGB6):c.275G>A (p.Arg92His)	LOC129994855, PCDHG@ +15 more (R92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372589	NM_018926.3(PCDHGB6):c.286T>G (p.Cys96Gly)	PCDHG@, PCDHGA1 +14 more (C96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213898	NM_018926.3(PCDHGB6):c.286T>C (p.Cys96Arg)	PCDHG@, PCDHGA1 +14 more (C96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210093	NM_018926.3(PCDHGB6):c.478C>G (p.Pro160Ala)	PCDHG@, PCDHGA1 +14 more (P160A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210094	NM_018926.3(PCDHGB6):c.482A>T (p.Asp161Val)	PCDHG@, PCDHGA1 +14 more (D161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220296	NM_018926.3(PCDHGB6):c.509A>T (p.Tyr170Phe)	PCDHG@, PCDHGA1 +14 more (Y170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481661	NM_018926.3(PCDHGB6):c.511A>G (p.Lys171Glu)	PCDHG@, PCDHGA1 +14 more (K171E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454593	NM_018926.3(PCDHGB6):c.532T>C (p.Phe178Leu)	PCDHG@, PCDHGA1 +14 more (F178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455363	NM_018926.3(PCDHGB6):c.560A>T (p.Asp187Val)	PCDHG@, PCDHGA1 +14 more (D187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236956	NM_018926.3(PCDHGB6):c.574C>T (p.Pro192Ser)	PCDHG@, PCDHGA1 +14 more (P192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305040	NM_018926.3(PCDHGB6):c.665G>T (p.Arg222Ile)	PCDHG@, PCDHGA1 +14 more (R222I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305046	NM_018926.3(PCDHGB6):c.668G>C (p.Ser223Thr)	PCDHG@, PCDHGA1 +14 more (S223T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294524	NM_018926.3(PCDHGB6):c.676G>A (p.Ala226Thr)	PCDHG@, PCDHGA1 +14 more (A226T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486475	NM_018926.3(PCDHGB6):c.829A>G (p.Ile277Val)	PCDHG@, PCDHGA1 +14 more (I277V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381985	NM_018926.3(PCDHGB6):c.853G>A (p.Ala285Thr)	PCDHG@, PCDHGA1 +14 more (A285T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210095	NM_018926.3(PCDHGB6):c.872T>C (p.Met291Thr)	PCDHG@, PCDHGA1 +14 more (M291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305042	NM_018926.3(PCDHGB6):c.884A>G (p.Asp295Gly)	PCDHG@, PCDHGA1 +14 more (D295G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210098	NM_018926.3(PCDHGB6):c.940A>G (p.Arg314Gly)	PCDHG@, PCDHGA1 +14 more (R314G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305051	NM_018926.3(PCDHGB6):c.974G>A (p.Gly325Asp)	PCDHG@, PCDHGA1 +14 more (G325D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239805	NM_018926.3(PCDHGB6):c.993T>G (p.Cys331Trp)	PCDHG@, PCDHGA1 +14 more (C331W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605476	NM_018926.3(PCDHGB6):c.1057T>C (p.Ser353Pro)	PCDHG@, PCDHGA1 +14 more (S353P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613328	NM_018926.3(PCDHGB6):c.1070T>G (p.Leu357Trp)	PCDHG@, PCDHGA1 +14 more (L357W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346604	NM_018926.3(PCDHGB6):c.1114C>T (p.Arg372Trp)	PCDHG@, PCDHGA1 +14 more (R372W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655857	NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210085	NM_018926.3(PCDHGB6):c.1295T>G (p.Leu432Arg)	PCDHG@, PCDHGA1 +14 more (L432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516988	NM_018926.3(PCDHGB6):c.1339G>C (p.Asp447His)	PCDHG@, PCDHGA1 +14 more (D447H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295248	NM_018926.3(PCDHGB6):c.1345G>T (p.Ala449Ser)	PCDHG@, PCDHGA1 +14 more (A449S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551052	NM_018926.3(PCDHGB6):c.1357G>C (p.Asp453His)	PCDHG@, PCDHGA1 +14 more (D453H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3305041	NM_018926.3(PCDHGB6):c.1362G>C (p.Gln454His)	PCDHG@, PCDHGA1 +14 more (Q454H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210086	NM_018926.3(PCDHGB6):c.1372G>C (p.Val458Leu)	PCDHG@, PCDHGA1 +14 more (V458L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3305044	NM_018926.3(PCDHGB6):c.1397C>A (p.Pro466Gln)	PCDHG@, PCDHGA1 +14 more (P466Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206369	NM_018926.3(PCDHGB6):c.1411A>G (p.Ile471Val)	PCDHG@, PCDHGA1 +14 more (I471V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212238	NM_018926.3(PCDHGB6):c.1425C>A (p.Ser475Arg)	PCDHG@, PCDHGA1 +14 more (S475R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305048	NM_018926.3(PCDHGB6):c.1502T>C (p.Val501Ala)	PCDHG@, PCDHGA1 +14 more (V501A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254775	NM_018926.3(PCDHGB6):c.1519G>A (p.Val507Met)	PCDHG@, PCDHGA1 +14 more (V507M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213457	NM_018926.3(PCDHGB6):c.1601C>G (p.Ala534Gly)	PCDHG@, PCDHGA1 +14 more (A534G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256822	NM_018926.3(PCDHGB6):c.1603C>A (p.Arg535Ser)	PCDHG@, PCDHGA1 +14 more (R535S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210087	NM_018926.3(PCDHGB6):c.1624C>T (p.Leu542Phe)	PCDHG@, PCDHGA1 +14 more (L542F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305043	NM_018926.3(PCDHGB6):c.1649T>C (p.Val550Ala)	PCDHG@, PCDHGA1 +14 more (V550A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465149	NM_018926.3(PCDHGB6):c.1731G>A (p.Met577Ile)	PCDHG@, PCDHGA1 +14 more (M577I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315721	NM_018926.3(PCDHGB6):c.1781T>C (p.Val594Ala)	PCDHG@, PCDHGA1 +14 more (V594A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305049	NM_018926.3(PCDHGB6):c.1811T>A (p.Leu604Gln)	PCDHG@, PCDHGA1 +14 more (L604Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305047	NM_018926.3(PCDHGB6):c.1861C>A (p.Leu621Met)	PCDHG@, PCDHGA1 +14 more (L621M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681470	NM_018926.3(PCDHGB6):c.1921C>T (p.Arg641Cys)	PCDHG@, PCDHGA1 +14 more (R641C)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2655858	NM_018926.3(PCDHGB6):c.1962C>T (p.Leu654=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2487169	NM_018926.3(PCDHGB6):c.1983T>A (p.His661Gln)	PCDHG@, PCDHGA1 +14 more (H661Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544177	NM_018926.3(PCDHGB6):c.2084C>T (p.Ala695Val)	PCDHG@, PCDHGA1 +14 more (A695V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210089	NM_018926.3(PCDHGB6):c.2131A>G (p.Ile711Val)	PCDHG@, PCDHGA1 +14 more (I711V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296902	NM_018926.3(PCDHGB6):c.2186C>A (p.Pro729His)	PCDHG@, PCDHGA1 +14 more (P729H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210090	NM_018926.3(PCDHGB6):c.2222C>A (p.Pro741His)	PCDHG@, PCDHGA1 +14 more (P741H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655859	NM_018926.3(PCDHGB6):c.2252C>T (p.Ser751Phe)	PCDHG@, PCDHGA1 +14 more (S751F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3210091	NM_018926.3(PCDHGB6):c.2255A>G (p.Tyr752Cys)	PCDHG@, PCDHGA1 +14 more (Y752C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655860	NM_018926.3(PCDHGB6):c.2268T>C (p.Ile756=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210092	NM_018926.3(PCDHGB6):c.2273A>T (p.His758Leu)	PCDHG@, PCDHGA1 +14 more (H758L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284313	NM_018926.3(PCDHGB6):c.2369C>T (p.Pro790Leu)	PCDHG@, PCDHGA1 +14 more (P790L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261342	NM_018926.3(PCDHGB6):c.2375A>G (p.His792Arg)	PCDHG@, PCDHGA1 +14 more (H792R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736375	NM_018913.3(PCDHGA10):c.32C>G (p.Ser11Ter)	PCDHG@, PCDHGA1 +15 more (S11*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3304921	NM_018913.3(PCDHGA10):c.97C>T (p.Arg33Trp)	PCDHG@, PCDHGA1 +15 more (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249593	NM_018913.3(PCDHGA10):c.164A>G (p.Asp55Gly)	PCDHG@, PCDHGA1 +15 more (D55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209856	NM_018913.3(PCDHGA10):c.232C>G (p.Leu78Val)	PCDHG@, PCDHGA1 +15 more (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304918	NM_018913.3(PCDHGA10):c.241C>G (p.Leu81Val)	PCDHG@, PCDHGA1 +15 more (L81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720930	NM_018913.3(PCDHGA10):c.251G>T (p.Arg84Leu)	PCDHG@, PCDHGA1 +15 more (R84L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3304920	NM_018913.3(PCDHGA10):c.260G>T (p.Ser87Ile)	PCDHG@, PCDHGA1 +15 more (S87I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344571	NM_018913.3(PCDHGA10):c.349A>T (p.Arg117Trp)	PCDHG@, PCDHGA1 +15 more (R117W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319873	NM_018913.3(PCDHGA10):c.425T>A (p.Leu142Gln)	PCDHG@, PCDHGA1 +15 more (L142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209858	NM_018913.3(PCDHGA10):c.449T>C (p.Val150Ala)	PCDHG@, PCDHGA1 +15 more (V150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209859	NM_018913.3(PCDHGA10):c.520T>C (p.Tyr174His)	PCDHG@, PCDHGA1 +15 more (Y174H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330971	NM_018913.3(PCDHGA10):c.577G>A (p.Val193Ile)	PCDHG@, PCDHGA1 +15 more (V193I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209860	NM_018913.3(PCDHGA10):c.613G>A (p.Asp205Asn)	PCDHG@, PCDHGA1 +15 more (D205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278828	NM_018913.3(PCDHGA10):c.619G>A (p.Glu207Lys)	PCDHG@, PCDHGA1 +15 more (E207K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780961	NM_018913.3(PCDHGA10):c.651C>T (p.Thr217=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3304919	NM_018913.3(PCDHGA10):c.731C>T (p.Pro244Leu)	PCDHG@, PCDHGA1 +15 more (P244L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064660	NM_018912.3(PCDHGA1):c.2422-80809G>A	PCDHG@, PCDHGA1 +15 more (E275K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295942	NM_018913.3(PCDHGA10):c.840A>T (p.Glu280Asp)	PCDHG@, PCDHGA1 +15 more (E280D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655861	NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2250708	NM_018913.3(PCDHGA10):c.995T>C (p.Leu332Pro)	PCDHG@, PCDHGA1 +15 more (L332P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521925	NM_018913.3(PCDHGA10):c.1000A>G (p.Thr334Ala)	PCDHG@, PCDHGA1 +15 more (T334A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290359	NM_018913.3(PCDHGA10):c.1014G>C (p.Leu338Phe)	PCDHG@, PCDHGA1 +15 more (L338F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465148	NM_018913.3(PCDHGA10):c.1298G>C (p.Ser433Thr)	PCDHG@, PCDHGA1 +15 more (S433T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209848	NM_018913.3(PCDHGA10):c.1304C>G (p.Pro435Arg)	PCDHG@, PCDHGA1 +15 more (P435R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209849	NM_018913.3(PCDHGA10):c.1478A>G (p.Tyr493Cys)	PCDHG@, PCDHGA1 +15 more (Y493C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476887	NM_018913.3(PCDHGA10):c.1481C>A (p.Ser494Tyr)	PCDHG@, PCDHGA1 +15 more (S494Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237434	NM_018913.3(PCDHGA10):c.1499T>A (p.Ile500Asn)	PCDHG@, PCDHGA1 +15 more (I500N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369951	NM_018913.3(PCDHGA10):c.1511C>A (p.Pro504His)	PCDHG@, PCDHGA1 +15 more (P504H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215167	NM_018913.3(PCDHGA10):c.1522T>A (p.Tyr508Asn)	PCDHG@, PCDHGA1 +15 more (Y508N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341093	NM_018913.3(PCDHGA10):c.1604A>G (p.Gln535Arg)	PCDHG@, PCDHGA1 +15 more (Q535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412261	NM_018913.3(PCDHGA10):c.1612G>C (p.Ala538Pro)	PCDHG@, PCDHGA1 +15 more (A538P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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