PCDHGB3[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 2486767	NM_018924.5(PCDHGB3):c.32C>T (p.Ala11Val)	PCDHG@, PCDHGA1 +7 more (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210052	NM_018924.5(PCDHGB3):c.47T>C (p.Met16Thr)	PCDHG@, PCDHGA1 +7 more (M16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544773	NM_018924.5(PCDHGB3):c.120G>T (p.Glu40Asp)	PCDHG@, PCDHGA1 +7 more (E40D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622300	NM_018924.5(PCDHGB3):c.250T>A (p.Leu84Ile)	PCDHG@, PCDHGA1 +7 more (L84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388541	NM_018924.5(PCDHGB3):c.266G>T (p.Arg89Leu)	PCDHG@, PCDHGA1 +7 more (R89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338008	NM_018924.5(PCDHGB3):c.275G>T (p.Arg92Leu)	PCDHG@, PCDHGA1 +7 more (R92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593656	NM_018924.5(PCDHGB3):c.299C>G (p.Ser100Trp)	PCDHG@, PCDHGA1 +7 more (S100W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274408	NM_018924.5(PCDHGB3):c.311T>C (p.Leu104Pro)	PCDHG@, PCDHGA1 +7 more (L104P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372350	NM_018924.5(PCDHGB3):c.410T>C (p.Ile137Thr)	PCDHG@, PCDHGA1 +7 more (I137T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226611	NM_018924.5(PCDHGB3):c.536C>T (p.Ser179Phe)	PCDHG@, PCDHGA1 +7 more (S179F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210053	NM_018924.5(PCDHGB3):c.579G>T (p.Glu193Asp)	PCDHG@, PCDHGA1 +7 more (E193D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210054	NM_018924.5(PCDHGB3):c.676A>G (p.Thr226Ala)	PCDHG@, PCDHGA1 +7 more (T226A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512994	NM_018924.5(PCDHGB3):c.815G>A (p.Gly272Asp)	PCDHG@, PCDHGA1 +7 more (G272D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477302	NM_018924.5(PCDHGB3):c.850A>T (p.Ile284Phe)	PCDHG@, PCDHGA1 +7 more (I284F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458542	NM_018924.5(PCDHGB3):c.868C>G (p.Gln290Glu)	PCDHG@, PCDHGA1 +7 more (Q290E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210055	NM_018924.5(PCDHGB3):c.920T>G (p.Leu307Arg)	PCDHG@, PCDHGA1 +7 more (L307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210056	NM_018924.5(PCDHGB3):c.962C>T (p.Ala321Val)	PCDHG@, PCDHGA1 +7 more (A321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509287	NM_018924.5(PCDHGB3):c.1006G>C (p.Asp336His)	PCDHG@, PCDHGA1 +7 more (D336H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410605	NM_018924.5(PCDHGB3):c.1033C>G (p.Pro345Ala)	PCDHG@, PCDHGA1 +7 more (P345A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454930	NM_018924.5(PCDHGB3):c.1135A>G (p.Asn379Asp)	PCDHGA1, PCDHGA2 +7 more (N379D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545218	NM_018924.5(PCDHGB3):c.1199A>C (p.Asn400Thr)	PCDHG@, PCDHGA1 +7 more (N400T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210045	NM_018924.5(PCDHGB3):c.1226C>A (p.Ala409Asp)	PCDHG@, PCDHGA1 +7 more (A409D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250709	NM_018924.5(PCDHGB3):c.1340A>G (p.Asp447Gly)	PCDHG@, PCDHGA1 +7 more (D447G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210046	NM_018924.5(PCDHGB3):c.1397C>G (p.Pro466Arg)	PCDHG@, PCDHGA1 +7 more (P466R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331271	NM_018924.5(PCDHGB3):c.1436C>G (p.Pro479Arg)	PCDHG@, PCDHGA1 +7 more (P479R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365196	NM_018924.5(PCDHGB3):c.1452T>A (p.Asn484Lys)	PCDHG@, PCDHGA1 +7 more (N484K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399066	NM_018924.5(PCDHGB3):c.1496G>A (p.Arg499Gln)	PCDHG@, PCDHGA1 +7 more (R499Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284312	NM_018924.5(PCDHGB3):c.1513G>T (p.Val505Leu)	PCDHG@, PCDHGA1 +7 more (V505L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357586	NM_018924.5(PCDHGB3):c.1519G>A (p.Val507Met)	PCDHG@, PCDHGA1 +7 more (V507M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362242	NM_018924.5(PCDHGB3):c.1528C>T (p.Arg510Trp)	PCDHG@, PCDHGA1 +7 more (R510W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490010	NM_018924.5(PCDHGB3):c.1577G>T (p.Arg526Leu)	PCDHG@, PCDHGA1 +7 more (R526L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602233	NM_018924.5(PCDHGB3):c.1648G>A (p.Val550Met)	PCDHG@, PCDHGA1 +7 more (V550M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392430	NM_018924.5(PCDHGB3):c.1660G>T (p.Asp554Tyr)	PCDHG@, PCDHGA1 +7 more (D554Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308118	NM_018924.5(PCDHGB3):c.1679C>T (p.Pro560Leu)	PCDHG@, PCDHGA1 +7 more (P560L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210047	NM_018924.5(PCDHGB3):c.1708G>A (p.Glu570Lys)	PCDHG@, PCDHGA1 +7 more (E570K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547562	NM_018924.5(PCDHGB3):c.1786G>A (p.Ala596Thr)	PCDHG@, PCDHGA1 +7 more (A596T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291299	NM_018924.5(PCDHGB3):c.1801A>G (p.Asn601Asp)	PCDHG@, PCDHGA1 +7 more (N601D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210048	NM_018924.5(PCDHGB3):c.1816T>C (p.Tyr606His)	PCDHG@, PCDHGA1 +7 more (Y606H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655847	NM_018924.5(PCDHGB3):c.1839G>A (p.Glu613=)	PCDHG@, PCDHGA1 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302666	NM_018924.5(PCDHGB3):c.1854C>G (p.Ser618Arg)	PCDHG@, PCDHGA1 +7 more (S618R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284717	NM_018924.5(PCDHGB3):c.1875G>C (p.Glu625Asp)	PCDHG@, PCDHGA1 +7 more (E625D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210049	NM_018924.5(PCDHGB3):c.1883C>G (p.Thr628Arg)	PCDHG@, PCDHGA1 +7 more (T628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360013	NM_018924.5(PCDHGB3):c.1892C>T (p.Thr631Ile)	PCDHG@, PCDHGA1 +7 more (T631I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210050	NM_018924.5(PCDHGB3):c.1939C>T (p.Arg647Cys)	PCDHG@, PCDHGA1 +7 more (R647C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210051	NM_018924.5(PCDHGB3):c.1960C>T (p.Leu654Phe)	PCDHG@, PCDHGA1 +7 more (L654F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306611	NM_018924.5(PCDHGB3):c.2032C>A (p.Arg678Ser)	PCDHG@, PCDHGA1 +7 more (R678S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252825	NM_018924.5(PCDHGB3):c.2180T>G (p.Phe727Cys)	PCDHG@, PCDHGA1 +7 more (F727C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475415	NM_018924.5(PCDHGB3):c.2192T>G (p.Val731Gly)	PCDHG@, PCDHGA1 +7 more (V731G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281921	NM_018919.3(PCDHGA6):c.18G>C (p.Arg6Ser)	PCDHG@, PCDHGA1 +8 more (R6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209973	NM_018919.3(PCDHGA6):c.21T>G (p.His7Gln)	PCDHG@, PCDHGA1 +8 more (H7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291396	NM_018919.3(PCDHGA6):c.49C>A (p.Leu17Ile)	PCDHG@, PCDHGA1 +8 more (L17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399204	NM_018919.3(PCDHGA6):c.56T>C (p.Leu19Pro)	PCDHG@, PCDHGA1 +8 more (L19P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209974	NM_018919.3(PCDHGA6):c.62G>A (p.Gly21Glu)	PCDHG@, PCDHGA1 +8 more (G21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264268	NM_018919.3(PCDHGA6):c.179C>A (p.Ala60Glu)	PCDHG@, PCDHGA1 +8 more (A60E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372225	NM_018919.3(PCDHGA6):c.277G>A (p.Glu93Lys)	PCDHG@, PCDHGA1 +8 more (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268972	NM_018919.3(PCDHGA6):c.292C>A (p.Gln98Lys)	PCDHG@, PCDHGA1 +8 more (Q98K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484773	NM_018919.3(PCDHGA6):c.407A>G (p.Glu136Gly)	PCDHG@, PCDHGA1 +8 more (E136G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356445	NM_018919.3(PCDHGA6):c.451C>G (p.Arg151Gly)	PCDHG@, PCDHGA1 +8 more (R151G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253983	NM_018919.3(PCDHGA6):c.464T>C (p.Met155Thr)	PCDHG@, PCDHGA1 +8 more (M155T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596410	NM_018919.3(PCDHGA6):c.476A>C (p.Asp159Ala)	PCDHG@, PCDHGA1 +8 more (D159A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616186	NM_018919.3(PCDHGA6):c.518G>C (p.Ser173Thr)	PCDHG@, PCDHGA1 +8 more (S173T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228105	NM_018919.3(PCDHGA6):c.688G>A (p.Val230Ile)	PCDHG@, PCDHGA1 +8 more (V230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462777	NM_018919.3(PCDHGA6):c.885T>G (p.Asn295Lys)	PCDHG@, PCDHGA1 +8 more (N295K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306801	NM_018919.3(PCDHGA6):c.895G>C (p.Gly299Arg)	PCDHG@, PCDHGA1 +8 more (G299R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617796	NM_018919.3(PCDHGA6):c.920T>C (p.Leu307Pro)	PCDHG@, PCDHGA1 +8 more (L307P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382460	NM_018919.3(PCDHGA6):c.1193T>C (p.Val398Ala)	PCDHG@, PCDHGA1 +8 more (V398A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209963	NM_018919.3(PCDHGA6):c.1252T>A (p.Tyr418Asn)	PCDHG@, PCDHGA1 +8 more (Y418N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520806	NM_018919.3(PCDHGA6):c.1258A>C (p.Ile420Leu)	PCDHG@, PCDHGA1 +8 more (I420L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599612	NM_018919.3(PCDHGA6):c.1259T>A (p.Ile420Asn)	PCDHG@, PCDHGA1 +8 more (I420N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235459	NM_018919.3(PCDHGA6):c.1286C>A (p.Thr429Lys)	PCDHG@, PCDHGA1 +8 more (T429K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209964	NM_018919.3(PCDHGA6):c.1288C>A (p.Pro430Thr)	PCDHG@, PCDHGA1 +8 more (P430T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227649	NM_018919.3(PCDHGA6):c.1291C>A (p.Pro431Thr)	PCDHG@, PCDHGA1 +8 more (P431T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528410	NM_018919.3(PCDHGA6):c.1312A>T (p.Ile438Phe)	PCDHG@, PCDHGA1 +8 more (I438F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395326	NM_018919.3(PCDHGA6):c.1358C>T (p.Pro453Leu)	PCDHG@, PCDHGA1 +8 more (P453L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362940	NM_018919.3(PCDHGA6):c.1472T>G (p.Leu491Arg)	PCDHG@, PCDHGA1 +8 more (L491R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209965	NM_018919.3(PCDHGA6):c.1603A>G (p.Ser535Gly)	PCDHG@, PCDHGA1 +8 more (S535G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363958	NM_018919.3(PCDHGA6):c.1635C>A (p.Asn545Lys)	PCDHG@, PCDHGA1 +8 more (N545K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209966	NM_018919.3(PCDHGA6):c.1639T>C (p.Ser547Pro)	PCDHG@, PCDHGA1 +8 more (S547P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334314	NM_018919.3(PCDHGA6):c.1647C>A (p.Ser549Arg)	PCDHG@, PCDHGA1 +8 more (S549R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623804	NM_018919.3(PCDHGA6):c.1683G>C (p.Glu561Asp)	PCDHG@, PCDHGA1 +8 more (E561D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209967	NM_018919.3(PCDHGA6):c.1688T>C (p.Leu563Pro)	PCDHG@, PCDHGA1 +8 more (L563P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549683	NM_018919.3(PCDHGA6):c.1706C>T (p.Thr569Ile)	PCDHG@, PCDHGA1 +8 more (T569I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494278	NM_018919.3(PCDHGA6):c.1711G>C (p.Gly571Arg)	PCDHG@, PCDHGA1 +8 more (G571R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280880	NM_018919.3(PCDHGA6):c.1744G>T (p.Ala582Ser)	PCDHG@, PCDHGA1 +8 more (A582S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209968	NM_018919.3(PCDHGA6):c.1747G>A (p.Glu583Lys)	PCDHG@, PCDHGA1 +8 more (E583K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492570	NM_018919.3(PCDHGA6):c.1754G>A (p.Gly585Asp)	PCDHG@, PCDHGA1 +8 more (G585D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209969	NM_018919.3(PCDHGA6):c.1880G>A (p.Arg627His)	PCDHG@, PCDHGA1 +8 more (R627H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467525	NM_018919.3(PCDHGA6):c.1966G>A (p.Ala656Thr)	PCDHG@, PCDHGA1 +8 more (A656T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349115	NM_018919.3(PCDHGA6):c.1978C>G (p.Leu660Val)	PCDHG@, PCDHGA1 +8 more (L660V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519463	NM_018919.3(PCDHGA6):c.1987G>A (p.Ala663Thr)	PCDHG@, PCDHGA1 +8 more (A663T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209971	NM_018919.3(PCDHGA6):c.2083G>A (p.Val695Met)	PCDHG@, PCDHGA1 +8 more (V695M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209972	NM_018919.3(PCDHGA6):c.2089G>A (p.Val697Met)	PCDHG@, PCDHGA1 +8 more (V697M)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2388153	NM_018919.3(PCDHGA6):c.2149C>A (p.Gln717Lys)	PCDHG@, PCDHGA1 +8 more (Q717K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263275	NM_018919.3(PCDHGA6):c.2206C>T (p.Pro736Ser)	PCDHG@, PCDHGA1 +8 more (P736S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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