PCDHGB2[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 2553788	NM_018923.3(PCDHGB2):c.83C>G (p.Ala28Gly)	PCDHG@, PCDHGA1 +5 more (A28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259921	NM_018923.3(PCDHGB2):c.106T>C (p.Ser36Pro)	PCDHG@, PCDHGA1 +5 more (S36P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210041	NM_018923.3(PCDHGB2):c.196C>G (p.Leu66Val)	PCDHG@, PCDHGA1 +5 more (L66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319423	NM_018923.3(PCDHGB2):c.224T>G (p.Phe75Cys)	PCDHG@, PCDHGA1 +5 more (F75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366177	NM_018923.3(PCDHGB2):c.272A>G (p.Asp91Gly)	PCDHG@, PCDHGA1 +5 more (D91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314839	NM_018923.3(PCDHGB2):c.284T>C (p.Ile95Thr)	PCDHG@, PCDHGA1 +5 more (I95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655845	NM_018923.3(PCDHGB2):c.319G>A (p.Asp107Asn)	PCDHG@, PCDHGA1 +5 more (D107N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2540984	NM_018923.3(PCDHGB2):c.320A>T (p.Asp107Val)	PCDHG@, PCDHGA1 +5 more (D107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227704	NM_018923.3(PCDHGB2):c.437C>G (p.Thr146Ser)	PCDHG@, PCDHGA1 +5 more (T146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210042	NM_018923.3(PCDHGB2):c.479C>T (p.Ser160Leu)	PCDHG@, PCDHGA1 +5 more (S160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372948	NM_018923.3(PCDHGB2):c.525C>A (p.Asn175Lys)	PCDHG@, PCDHGA1 +5 more (N175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229477	NM_018923.3(PCDHGB2):c.715C>G (p.Pro239Ala)	PCDHG@, PCDHGA1 +5 more (P239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263101	NM_018923.3(PCDHGB2):c.749C>T (p.Thr250Ile)	PCDHG@, PCDHGA1 +5 more (T250I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210043	NM_018923.3(PCDHGB2):c.760G>C (p.Asp254His)	PCDHG@, PCDHGA1 +5 more (D254H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615103	NM_018923.3(PCDHGB2):c.911A>T (p.Lys304Met)	PCDHG@, PCDHGA1 +5 more (K304M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307452	NM_018923.3(PCDHGB2):c.957C>G (p.Ile319Met)	PCDHG@, PCDHGA1 +5 more (I319M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614830	NM_018923.3(PCDHGB2):c.958G>C (p.Glu320Gln)	PCDHG@, PCDHGA1 +5 more (E320Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605475	NM_018923.3(PCDHGB2):c.1063C>A (p.Pro355Thr)	PCDHG@, PCDHGA1 +5 more (P355T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210039	NM_018923.3(PCDHGB2):c.1091C>G (p.Thr364Arg)	PCDHG@, PCDHGA1 +5 more (T364R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347801	NM_018923.3(PCDHGB2):c.1163G>A (p.Gly388Glu)	PCDHG@, PCDHGA1 +5 more (G388E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216718	NM_018923.3(PCDHGB2):c.1197G>T (p.Lys399Asn)	PCDHG@, PCDHGA1 +5 more (K399N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222173	NM_018923.3(PCDHGB2):c.1208A>G (p.Lys403Arg)	PCDHG@, PCDHGA1 +5 more (K403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518724	NM_018923.3(PCDHGB2):c.1279G>A (p.Gly427Arg)	PCDHG@, PCDHGA1 +5 more (G427R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489507	NM_018923.3(PCDHGB2):c.1283G>A (p.Gly428Asp)	PCDHG@, PCDHGA1 +5 more (G428D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213636	NM_018923.3(PCDHGB2):c.1339G>A (p.Asp447Asn)	PCDHG@, PCDHGA1 +5 more (D447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366984	NM_018923.3(PCDHGB2):c.1387G>C (p.Glu463Gln)	PCDHG@, PCDHGA1 +5 more (E463Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321405	NM_018923.3(PCDHGB2):c.1535G>T (p.Gly512Val)	PCDHG@, PCDHGA1 +5 more (G512V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606115	NM_018923.3(PCDHGB2):c.1612G>A (p.Gly538Ser)	PCDHG@, PCDHGA1 +5 more (G538S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333344	NM_018923.3(PCDHGB2):c.1646G>A (p.Arg549His)	PCDHG@, PCDHGA1 +5 more (R549H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287111	NM_018923.3(PCDHGB2):c.1648G>C (p.Val550Leu)	PCDHG@, PCDHGA1 +5 more (V550L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469888	NM_018923.3(PCDHGB2):c.1703G>T (p.Gly568Val)	PCDHG@, PCDHGA1 +5 more (G568V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296350	NM_018923.3(PCDHGB2):c.1735C>T (p.Pro579Ser)	PCDHG@, PCDHGA1 +5 more (P579S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210040	NM_018923.3(PCDHGB2):c.1822G>A (p.Val608Met)	PCDHGB2, PCDHG@ +5 more (V608M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320639	NM_018923.3(PCDHGB2):c.1843G>C (p.Gly615Arg)	PCDHG@, PCDHGA1 +5 more (G615R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603013	NM_018923.3(PCDHGB2):c.1909G>C (p.Ala637Pro)	PCDHG@, PCDHGA1 +5 more (A637P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378634	NM_018923.3(PCDHGB2):c.1949G>T (p.Gly650Val)	PCDHG@, PCDHGA1 +5 more (G650V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528282	NM_018923.3(PCDHGB2):c.1976C>T (p.Thr659Met)	PCDHG@, PCDHGA1 +5 more (T659M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241435	NM_018922.3(PCDHGB1):c.2409+9502G>C	PCDHG@, PCDHGA1 +5 more (R679P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2345127	NM_018923.3(PCDHGB2):c.2056G>A (p.Ala686Thr)	PCDHG@, PCDHGA1 +5 more (A686T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1276735	NM_018912.3(PCDHGA1):c.2421+29089A>G	PCDHG@, PCDHGA1 +5 more (K687E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2329424	NM_018923.3(PCDHGB2):c.2123T>C (p.Ile708Thr)	PCDHG@, PCDHGA1 +5 more (I708T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461544	NM_018923.3(PCDHGB2):c.2386G>T (p.Ala796Ser)	PCDHG@, PCDHGA1 +5 more (A796S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209954	NM_018918.3(PCDHGA5):c.30C>G (p.Cys10Trp)	PCDHG@, PCDHGA1 +6 more (C10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209956	NM_018918.3(PCDHGA5):c.46C>T (p.Pro16Ser)	PCDHG@, PCDHGA1 +6 more (P16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209957	NM_018918.3(PCDHGA5):c.50T>C (p.Phe17Ser)	PCDHG@, PCDHGA1 +6 more (F17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209939	NM_018918.3(PCDHGA5):c.142A>G (p.Ile48Val)	PCDHG@, PCDHGA1 +6 more (I48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249014	NM_018918.3(PCDHGA5):c.143T>C (p.Ile48Thr)	PCDHG@, PCDHGA1 +6 more (I48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588353	NM_018918.3(PCDHGA5):c.187G>A (p.Gly63Arg)	PCDHG@, PCDHGA1 +6 more (G63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529396	NM_018918.3(PCDHGA5):c.194G>T (p.Arg65Leu)	PCDHG@, PCDHGA1 +6 more (R65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273200	NM_018918.3(PCDHGA5):c.199G>A (p.Val67Ile)	PCDHG@, PCDHGA1 +6 more (V67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209953	NM_018918.3(PCDHGA5):c.260C>G (p.Ala87Gly)	PCDHG@, PCDHGA1 +6 more (A87G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559931	NM_018918.3(PCDHGA5):c.274C>G (p.Arg92Gly)	PCDHG@, PCDHGA1 +6 more (R92G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399007	NM_018918.3(PCDHGA5):c.275G>A (p.Arg92Gln)	PCDHG@, PCDHGA1 +6 more (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615200	NM_018918.3(PCDHGA5):c.283C>G (p.Leu95Val)	PCDHG@, PCDHGA1 +6 more (L95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334313	NM_018918.3(PCDHGA5):c.301C>G (p.Leu101Val)	PCDHG@, PCDHGA1 +6 more (L101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209955	NM_018918.3(PCDHGA5):c.311T>C (p.Val104Ala)	PCDHG@, PCDHGA1 +6 more (V104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570160	NM_018918.3(PCDHGA5):c.425T>C (p.Val142Ala)	PCDHG@, PCDHGA1 +6 more (V142A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342554	NM_018918.3(PCDHGA5):c.524A>G (p.Asn175Ser)	PCDHG@, PCDHGA1 +6 more (N175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209958	NM_018918.3(PCDHGA5):c.567A>C (p.Gln189His)	PCDHG@, PCDHGA1 +6 more (Q189H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536333	NM_018918.3(PCDHGA5):c.604C>T (p.Arg202Cys)	PCDHG@, PCDHGA1 +6 more (R202C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508416	NM_018918.3(PCDHGA5):c.638C>T (p.Thr213Ile)	PCDHGA3, PCDHGB2 +6 more (T213I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351789	NM_018918.3(PCDHGA5):c.679C>T (p.His227Tyr)	PCDHG@, PCDHGA1 +6 more (H227Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234425	NM_018918.3(PCDHGA5):c.728C>A (p.Thr243Asn)	PCDHG@, PCDHGA1 +6 more (T243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522675	NM_018918.3(PCDHGA5):c.733T>C (p.Ser245Pro)	PCDHG@, PCDHGA1 +6 more (S245P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209959	NM_018918.3(PCDHGA5):c.845G>T (p.Arg282Leu)	PCDHG@, PCDHGA1 +6 more (R282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209960	NM_018918.3(PCDHGA5):c.856G>A (p.Glu286Lys)	PCDHG@, PCDHGA1 +6 more (E286K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209961	NM_018918.3(PCDHGA5):c.889A>G (p.Asn297Asp)	PCDHG@, PCDHGA1 +6 more (N297D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209962	NM_018918.3(PCDHGA5):c.904T>C (p.Ser302Pro)	PCDHG@, PCDHGA1 +6 more (S302P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241980	NM_018918.3(PCDHGA5):c.997G>C (p.Val333Leu)	PCDHG@, PCDHGA1 +6 more (V333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209936	NM_018918.3(PCDHGA5):c.1110C>A (p.Ser370Arg)	PCDHG@, PCDHGA1 +6 more (S370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547474	NM_018918.3(PCDHGA5):c.1115A>C (p.His372Pro)	PCDHG@, PCDHGA1 +6 more (H372P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209411	NM_018918.3(PCDHGA5):c.1183G>C (p.Glu395Gln)	PCDHG@, PCDHGA1 +6 more (E395Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299500	NM_018918.3(PCDHGA5):c.1193T>C (p.Val398Ala)	PCDHG@, PCDHGA1 +6 more (V398A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403843	NM_018918.3(PCDHGA5):c.1225G>T (p.Asp409Tyr)	PCDHG@, PCDHGA1 +6 more (D409Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306511	NM_018918.3(PCDHGA5):c.1235G>A (p.Arg412Lys)	PCDHG@, PCDHGA1 +6 more (R412K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535893	NM_018918.3(PCDHGA5):c.1280A>C (p.His427Pro)	PCDHG@, PCDHGA1 +6 more (H427P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589021	NM_018918.3(PCDHGA5):c.1333G>C (p.Val445Leu)	PCDHG@, PCDHGA1 +6 more (V445L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333247	NM_018918.3(PCDHGA5):c.1336A>G (p.Asn446Asp)	PCDHG@, PCDHGA1 +6 more (N446D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320004	NM_018918.3(PCDHGA5):c.1349C>T (p.Pro450Leu)	PCDHG@, PCDHGA1 +6 more (P450L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218284	NM_018918.3(PCDHGA5):c.1409C>A (p.Ser470Tyr)	PCDHG@, PCDHGA1 +6 more (S470Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209938	NM_018918.3(PCDHGA5):c.1414T>A (p.Phe472Ile)	PCDHG@, PCDHGA1 +6 more (F472I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496354	NM_018918.3(PCDHGA5):c.1447G>A (p.Asp483Asn)	PCDHG@, PCDHGA1 +6 more (D483N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236955	NM_018918.3(PCDHGA5):c.1448A>G (p.Asp483Gly)	PCDHG@, PCDHGA1 +6 more (D483G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282583	NM_018918.3(PCDHGA5):c.1453G>T (p.Ala485Ser)	PCDHG@, PCDHGA1 +6 more (A485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403844	NM_018918.3(PCDHGA5):c.1495G>T (p.Ala499Ser)	PCDHG@, PCDHGA1 +6 more (A499S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209940	NM_018918.3(PCDHGA5):c.1567G>A (p.Glu523Lys)	PCDHG@, PCDHGA1 +6 more (E523K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209941	NM_018918.3(PCDHGA5):c.1676C>A (p.Thr559Lys)	PCDHG@, PCDHGA1 +6 more (T559K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209942	NM_018918.3(PCDHGA5):c.1733C>A (p.Ala578Glu)	PCDHG@, PCDHGA1 +6 more (A578E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457831	NM_018918.3(PCDHGA5):c.1749A>T (p.Glu583Asp)	PCDHG@, PCDHGA1 +6 more (E583D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331269	NM_018918.3(PCDHGA5):c.1771G>A (p.Val591Met)	PCDHG@, PCDHGA1 +6 more (V591M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655846	NM_018918.3(PCDHGA5):c.1776A>G (p.Val592=)	PCDHG@, PCDHGA1 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209943	NM_018918.3(PCDHGA5):c.1837G>A (p.Glu613Lys)	PCDHG@, PCDHGA1 +6 more (E613K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209944	NM_018918.3(PCDHGA5):c.1891G>C (p.Ala631Pro)	PCDHG@, PCDHGA1 +6 more (A631P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209945	NM_018918.3(PCDHGA5):c.1931T>A (p.Val644Glu)	PCDHG@, PCDHGA1 +6 more (V644E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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