PCDHGB1[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 2350789	NM_018922.3(PCDHGB1):c.22G>A (p.Glu8Lys)	PCDHG@, PCDHGA1 +3 more (E8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221963	NM_018922.3(PCDHGB1):c.66G>T (p.Leu22Phe)	PCDHG@, PCDHGA1 +3 more (L22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455780	NM_018922.3(PCDHGB1):c.115C>G (p.Leu39Val)	PCDHG@, PCDHGA1 +3 more (L39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342588	NM_018922.3(PCDHGB1):c.130C>G (p.Arg44Gly)	PCDHG@, PCDHGA1 +3 more (R44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241710	NM_018922.3(PCDHGB1):c.189A>C (p.Lys63Asn)	PCDHG@, PCDHGA1 +3 more (K63N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255779	NM_018922.3(PCDHGB1):c.191T>C (p.Leu64Pro)	PCDHG@, PCDHGA1 +3 more (L64P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558468	NM_018922.3(PCDHGB1):c.220G>A (p.Val74Ile)	PCDHG@, PCDHGA1 +3 more (V74I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303311	NM_018922.3(PCDHGB1):c.238G>T (p.Asp80Tyr)	PCDHG@, PCDHGA1 +3 more (D80Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305011	NM_018922.3(PCDHGB1):c.308T>C (p.Phe103Ser)	PCDHG@, PCDHGA1 +3 more (F103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208611	NM_018922.3(PCDHGB1):c.322G>A (p.Glu108Lys)	PCDHG@, PCDHGA1 +3 more (E108K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455778	NM_018922.3(PCDHGB1):c.427G>T (p.Ala143Ser)	PCDHG@, PCDHGA1 +3 more (A143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221627	NM_018922.3(PCDHGB1):c.433C>A (p.Pro145Thr)	PCDHG@, PCDHGA1 +3 more (P145T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385732	NM_018922.3(PCDHGB1):c.635T>C (p.Met212Thr)	PCDHG@, PCDHGA1 +3 more (M212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378689	NM_018922.3(PCDHGB1):c.647A>G (p.Asp216Gly)	PCDHG@, PCDHGA1 +3 more (D216G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305015	NM_018922.3(PCDHGB1):c.673A>G (p.Ile225Val)	PCDHG@, PCDHGA1 +3 more (I225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210037	NM_018922.3(PCDHGB1):c.683G>C (p.Arg228Pro)	PCDHG@, PCDHGA1 +3 more (R228P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227790	NM_018922.3(PCDHGB1):c.698A>G (p.Asn233Ser)	PCDHG@, PCDHGA1 +3 more (N233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606771	NM_018922.3(PCDHGB1):c.766A>G (p.Thr256Ala)	PCDHG@, PCDHGA1 +3 more (T256A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523192	NM_018922.3(PCDHGB1):c.833T>C (p.Phe278Ser)	PCDHG@, PCDHGA1 +3 more (F278S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300273	NM_018922.3(PCDHGB1):c.871A>G (p.Asn291Asp)	PCDHG@, PCDHGA1 +3 more (N291D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613609	NM_018922.3(PCDHGB1):c.934G>A (p.Val312Met)	PCDHG@, PCDHGA1 +3 more (V312M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210025	NM_018922.3(PCDHGB1):c.1016A>G (p.Asn339Ser)	PCDHG@, PCDHGA1 +3 more (N339S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305010	NM_018922.3(PCDHGB1):c.1185G>C (p.Lys395Asn)	PCDHG@, PCDHGA1 +3 more (K395N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210026	NM_018922.3(PCDHGB1):c.1207G>T (p.Ala403Ser)	PCDHG@, PCDHGA1 +3 more (A403S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655842	NM_018922.3(PCDHGB1):c.1222C>A (p.Arg408=)	PCDHG@, PCDHGA1 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655843	NM_018922.3(PCDHGB1):c.1232C>A (p.Thr411Lys)	PCDHG@, PCDHGA1 +3 more (T411K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2598090	NM_018922.3(PCDHGB1):c.1246G>A (p.Val416Ile)	PCDHG@, PCDHGA1 +3 more (V416I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210027	NM_018922.3(PCDHGB1):c.1339G>A (p.Val447Ile)	PCDHG@, PCDHGA1 +3 more (V447I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550040	NM_018922.3(PCDHGB1):c.1397C>T (p.Ser466Phe)	PCDHG@, PCDHGA1 +3 more (S466F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561831	NM_018922.3(PCDHGB1):c.1525G>C (p.Val509Leu)	PCDHG@, PCDHGA1 +3 more (V509L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305008	NM_018922.3(PCDHGB1):c.1552C>T (p.His518Tyr)	PCDHG@, PCDHGA1 +3 more (H518Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456263	NM_018922.3(PCDHGB1):c.1567G>T (p.Ala523Ser)	PCDHG@, PCDHGA1 +3 more (A523S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539912	NM_018922.3(PCDHGB1):c.1572C>G (p.Phe524Leu)	PCDHG@, PCDHGA1 +3 more (F524L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210028	NM_018922.3(PCDHGB1):c.1624G>A (p.Val542Met)	PCDHG@, PCDHGA1 +3 more (V542M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305014	NM_018922.3(PCDHGB1):c.1664C>A (p.Ala555Glu)	PCDHG@, PCDHGA1 +3 more (A555E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210029	NM_018922.3(PCDHGB1):c.1691G>A (p.Gly564Glu)	PCDHG@, PCDHGA1 +3 more (G564E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305012	NM_018922.3(PCDHGB1):c.1694C>T (p.Pro565Leu)	PCDHG@, PCDHGA1 +3 more (P565L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532000	NM_018922.3(PCDHGB1):c.1696G>T (p.Asp566Tyr)	PCDHG@, PCDHGA1 +3 more (D566Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210030	NM_018922.3(PCDHGB1):c.1705G>T (p.Ala569Ser)	PCDHG@, PCDHGA1 +3 more (A569S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597673	NM_018922.3(PCDHGB1):c.1727G>T (p.Arg576Leu)	PCDHG@, PCDHGA1 +3 more (R576L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235547	NM_018922.3(PCDHGB1):c.1739C>T (p.Pro580Leu)	PCDHG@, PCDHGA1 +3 more (P580L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352074	NM_018922.3(PCDHGB1):c.1774G>A (p.Ala592Thr)	PCDHG@, PCDHGA1 +3 more (A592T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352129	NM_018922.3(PCDHGB1):c.1775C>A (p.Ala592Glu)	PCDHG@, PCDHGA1 +3 more (A592E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249080	NM_018922.3(PCDHGB1):c.1828C>T (p.Pro610Ser)	PCDHG@, PCDHGA1 +3 more (P610S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210031	NM_018922.3(PCDHGB1):c.1843C>G (p.Leu615Val)	PCDHG@, PCDHGA1 +3 more (L615V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305009	NM_018922.3(PCDHGB1):c.1858G>A (p.Gly620Ser)	PCDHG@, PCDHGA1 +3 more (G620S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292565	NM_018922.3(PCDHGB1):c.1868G>T (p.Arg623Leu)	PCDHG@, PCDHGA1 +3 more (R623L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210032	NM_018922.3(PCDHGB1):c.1876C>A (p.Arg626Ser)	PCDHG@, PCDHGA1 +3 more (R626S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512261	NM_018922.3(PCDHGB1):c.1886G>A (p.Gly629Asp)	PCDHG@, PCDHGA1 +3 more (G629D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385731	NM_018922.3(PCDHGB1):c.1904G>T (p.Arg635Leu)	PCDHG@, PCDHGA1 +3 more (R635L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681469	NM_018912.3(PCDHGA1):c.2421+19083G>A	PCDHGA2, PCDHG@ +3 more (R643H)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2475467	NM_018922.3(PCDHGB1):c.1955C>T (p.Ala652Val)	PCDHG@, PCDHGA1 +3 more (A652V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210033	NM_018922.3(PCDHGB1):c.1964C>A (p.Thr655Lys)	PCDHG@, PCDHGA1 +3 more (T655K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210034	NM_018922.3(PCDHGB1):c.2065G>A (p.Val689Ile)	PCDHG@, PCDHGA1 +3 more (V689I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211134	NM_018922.3(PCDHGB1):c.2128C>A (p.Arg710Ser)	PCDHG@, PCDHGA1 +3 more (R710S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332721	NM_018922.3(PCDHGB1):c.2176G>A (p.Gly726Ser)	PCDHG@, PCDHGA1 +3 more (G726S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494214	NM_018922.3(PCDHGB1):c.2177G>A (p.Gly726Asp)	PCDHG@, PCDHGA1 +3 more (G726D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386166	NM_018922.3(PCDHGB1):c.2275A>G (p.Thr759Ala)	PCDHG@, PCDHGA1 +3 more (T759A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210036	NM_018922.3(PCDHGB1):c.2276C>T (p.Thr759Ile)	PCDHG@, PCDHGA1 +3 more (T759I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305013	NM_018922.3(PCDHGB1):c.2285A>G (p.Asn762Ser)	PCDHG@, PCDHGA1 +3 more (N762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570234	NM_018922.3(PCDHGB1):c.2393C>A (p.Pro798His)	PCDHGA1, PCDHGA2 +3 more (P798H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454270	NM_018922.3(PCDHGB1):c.2399T>C (p.Leu800Ser)	PCDHG@, PCDHGA1 +3 more (L800S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512295	NM_018917.4(PCDHGA4):c.100G>A (p.Ala34Thr)	PCDHG@, PCDHGA1 +4 more (A34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227801	NM_018917.4(PCDHGA4):c.277C>G (p.Arg93Gly)	PCDHG@, PCDHGA1 +4 more (R93G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209926	NM_018917.4(PCDHGA4):c.292G>C (p.Val98Leu)	PCDHG@, PCDHGA1 +4 more (V98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553705	NM_018917.4(PCDHGA4):c.293T>C (p.Val98Ala)	PCDHG@, PCDHGA1 +4 more (V98A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489437	NM_018917.4(PCDHGA4):c.296C>T (p.Ser99Phe)	PCDHG@, PCDHGA1 +4 more (S99F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483995	NM_018917.4(PCDHGA4):c.343T>G (p.Leu115Val)	PCDHG@, PCDHGA1 +4 more (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318215	NM_018917.4(PCDHGA4):c.347T>C (p.Val116Ala)	PCDHG@, PCDHGA1 +4 more (V116A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594285	NM_018917.4(PCDHGA4):c.364G>C (p.Asp122His)	PCDHG@, PCDHGA1 +4 more (D122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304954	NM_018917.4(PCDHGA4):c.367A>T (p.Arg123Trp)	PCDHG@, PCDHGA1 +4 more (R123W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655844	NM_018917.4(PCDHGA4):c.409C>T (p.Leu137=)	PCDHG@, PCDHGA1 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2296475	NM_018917.4(PCDHGA4):c.461T>C (p.Ile154Thr)	PCDHG@, PCDHGA1 +4 more (I154T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225917	NM_018917.4(PCDHGA4):c.466G>T (p.Asp156Tyr)	PCDHG@, PCDHGA1 +4 more (D156Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379966	NM_018917.4(PCDHGA4):c.538G>A (p.Gly180Arg)	PCDHG@, PCDHGA1 +4 more (G180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1273895	NM_018912.3(PCDHGA1):c.2421+22543G>A	PCDHG@, PCDHGA1 +4 more (A181T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2617394	NM_018917.4(PCDHGA4):c.572C>A (p.Pro191Gln)	PCDHG@, PCDHGA1 +4 more (P191Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209930	NM_018917.4(PCDHGA4):c.597G>C (p.Gln199His)	PCDHG@, PCDHGA1 +4 more (Q199H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332193	NM_018917.4(PCDHGA4):c.724G>A (p.Val242Ile)	PCDHG@, PCDHGA1 +4 more (V242I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244776	NM_018917.4(PCDHGA4):c.731C>A (p.Thr244Lys)	PCDHG@, PCDHGA1 +4 more (T244K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595768	NM_018917.4(PCDHGA4):c.745G>C (p.Gly249Arg)	PCDHG@, PCDHGA1 +4 more (G249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209931	NM_018917.4(PCDHGA4):c.847C>T (p.Arg283Cys)	PCDHG@, PCDHGA1 +4 more (R283C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304947	NM_018917.4(PCDHGA4):c.855C>G (p.Asn285Lys)	PCDHG@, PCDHGA1 +4 more (N285K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306800	NM_018917.4(PCDHGA4):c.901G>A (p.Asp301Asn)	PCDHG@, PCDHGA1 +4 more (D301N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209932	NM_018917.4(PCDHGA4):c.903T>A (p.Asp301Glu)	PCDHG@, PCDHGA1 +4 more (D301E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277050	NM_018917.4(PCDHGA4):c.914A>G (p.Asn305Ser)	PCDHG@, PCDHGA1 +4 more (N305S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209933	NM_018917.4(PCDHGA4):c.938G>A (p.Arg313Gln)	PCDHG@, PCDHGA1 +4 more (R313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304953	NM_018917.4(PCDHGA4):c.1006G>A (p.Gly336Arg)	PCDHG@, PCDHGA1 +4 more (G336R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514713	NM_018917.4(PCDHGA4):c.1028C>T (p.Ser343Phe)	PCDHG@, PCDHGA1 +4 more (S343F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209934	NM_018917.4(PCDHGA4):c.1040A>G (p.Asp347Gly)	PCDHG@, PCDHGA1 +4 more (D347G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209935	NM_018917.4(PCDHGA4):c.1049T>C (p.Val350Ala)	PCDHG@, PCDHGA1 +4 more (V350A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466283	NM_018917.4(PCDHGA4):c.1076G>A (p.Arg359Gln)	PCDHG@, PCDHGA1 +4 more (R359Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539400	NM_018917.4(PCDHGA4):c.1142C>T (p.Thr381Ile)	PCDHG@, PCDHGA1 +4 more (T381I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496091	NM_018917.4(PCDHGA4):c.1183A>G (p.Thr395Ala)	PCDHG@, PCDHGA1 +4 more (T395A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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