PCDHGA3[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 3304945	NM_018916.4(PCDHGA3):c.8A>G (p.Asn3Ser)	PCDHG@, PCDHGA1 +2 more (N3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492171	NM_018916.4(PCDHGA3):c.73G>A (p.Glu25Lys)	PCDHG@, PCDHGA1 +2 more (E25K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209917	NM_018916.4(PCDHGA3):c.94C>T (p.Arg32Cys)	PCDHG@, PCDHGA1 +2 more (R32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375289	NM_018916.4(PCDHGA3):c.187G>C (p.Gly63Arg)	PCDHG@, PCDHGA1 +2 more (G63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477536	NM_018916.4(PCDHGA3):c.205A>G (p.Arg69Gly)	PCDHG@, PCDHGA1 +2 more (R69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268174	NM_018916.4(PCDHGA3):c.220C>G (p.Leu74Val)	PCDHG@, PCDHGA1 +2 more (L74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491564	NM_018916.4(PCDHGA3):c.245G>A (p.Gly82Asp)	PCDHG@, PCDHGA1 +2 more (G82D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490804	NM_018916.4(PCDHGA3):c.259G>C (p.Ala87Pro)	PCDHG@, PCDHGA1 +2 more (A87P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209911	NM_018916.4(PCDHGA3):c.289G>A (p.Ala97Thr)	PCDHG@, PCDHGA1 +2 more (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304970	NM_018916.4(PCDHGA3):c.315A>C (p.Lys105Asn)	PCDHG@, PCDHGA1 +2 more (K105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493875	NM_018916.4(PCDHGA3):c.346A>C (p.Ile116Leu)	PCDHG@, PCDHGA1 +2 more (I116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486002	NM_018916.4(PCDHGA3):c.410A>G (p.Glu137Gly)	PCDHG@, PCDHGA1 +2 more (E137G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209912	NM_018916.4(PCDHGA3):c.433C>A (p.Leu145Ile)	PCDHG@, PCDHGA1 +2 more (L145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296894	NM_018912.3(PCDHGA1):c.2421+11388A>C	PCDHG@, PCDHGA1 +2 more (I154L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3209913	NM_018916.4(PCDHGA3):c.503A>G (p.Gln168Arg)	PCDHG@, PCDHGA1 +2 more (Q168R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304941	NM_018916.4(PCDHGA3):c.541G>A (p.Ala181Thr)	PCDHG@, PCDHGA1 +2 more (A181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209914	NM_018916.4(PCDHGA3):c.553G>A (p.Val185Ile)	PCDHG@, PCDHGA1 +2 more (V185I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554413	NM_018916.4(PCDHGA3):c.569A>G (p.Lys190Arg)	PCDHG@, PCDHGA1 +2 more (K190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549254	NM_018916.4(PCDHGA3):c.572A>G (p.Tyr191Cys)	PCDHG@, PCDHGA1 +2 more (Y191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370002	NM_018916.4(PCDHGA3):c.755G>T (p.Trp252Leu)	PCDHG@, PCDHGA1 +2 more (W252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209915	NM_018916.4(PCDHGA3):c.785T>A (p.Leu262His)	PCDHG@, PCDHGA1 +2 more (L262H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209916	NM_018916.4(PCDHGA3):c.872T>C (p.Ile291Thr)	PCDHG@, PCDHGA1 +2 more (I291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466895	NM_018916.4(PCDHGA3):c.878A>T (p.His293Leu)	PCDHG@, PCDHGA1 +2 more (H293L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209918	NM_018916.4(PCDHGA3):c.951T>G (p.Ile317Met)	PCDHG@, PCDHGA1 +2 more (I317M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211424	NM_018916.4(PCDHGA3):c.962C>T (p.Ala321Val)	PCDHG@, PCDHGA1 +2 more (A321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216142	NM_018916.4(PCDHGA3):c.1007C>T (p.Thr336Met)	PCDHG@, PCDHGA1 +2 more (T336M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304943	NM_018916.4(PCDHGA3):c.1023T>G (p.Asn341Lys)	PCDHG@, PCDHGA1 +2 more (N341K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517670	NM_018916.4(PCDHGA3):c.1033C>T (p.Pro345Ser)	PCDHG@, PCDHGA1 +2 more (P345S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374935	NM_018916.4(PCDHGA3):c.1034C>T (p.Pro345Leu)	PCDHG@, PCDHGA1 +2 more (P345L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304946	NM_018916.4(PCDHGA3):c.1036G>A (p.Glu346Lys)	PCDHG@, PCDHGA1 +2 more (E346K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295319	NM_018916.4(PCDHGA3):c.1061G>A (p.Ser354Asn)	PCDHG@, PCDHGA1 +2 more (S354N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655841	NM_018916.4(PCDHGA3):c.1143G>A (p.Gln381=)	PCDHG@, PCDHGA1 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209904	NM_018916.4(PCDHGA3):c.1220C>A (p.Ala407Asp)	PCDHG@, PCDHGA1 +2 more (A407D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304944	NM_018916.4(PCDHGA3):c.1234C>T (p.Arg412Cys)	PCDHG@, PCDHGA1 +2 more (R412C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485786	NM_018916.4(PCDHGA3):c.1252T>C (p.Tyr418His)	PCDHG@, PCDHGA1 +2 more (Y418H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603729	NM_018916.4(PCDHGA3):c.1253A>G (p.Tyr418Cys)	PCDHGA1, PCDHGA2 +2 more (Y418C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247705	NM_018916.4(PCDHGA3):c.1264C>G (p.Leu422Val)	PCDHG@, PCDHGA1 +2 more (L422V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244695	NM_018916.4(PCDHGA3):c.1316C>A (p.Thr439Asn)	PCDHG@, PCDHGA1 +2 more (T439N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568924	NM_018916.4(PCDHGA3):c.1390A>G (p.Asn464Asp)	PCDHG@, PCDHGA1 +2 more (N464D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209905	NM_018916.4(PCDHGA3):c.1466A>C (p.Tyr489Ser)	PCDHG@, PCDHGA1 +2 more (Y489S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559824	NM_018916.4(PCDHGA3):c.1475C>T (p.Thr492Ile)	PCDHG@, PCDHGA1 +2 more (T492I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210789	NM_018916.4(PCDHGA3):c.1529A>G (p.Asn510Ser)	PCDHG@, PCDHGA1 +2 more (N510S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217441	NM_018916.4(PCDHGA3):c.1543T>A (p.Tyr515Asn)	PCDHG@, PCDHGA1 +2 more (Y515N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209906	NM_018916.4(PCDHGA3):c.1546G>C (p.Ala516Pro)	PCDHG@, PCDHGA1 +2 more (A516P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411706	NM_018916.4(PCDHGA3):c.1618C>T (p.Pro540Ser)	PCDHG@, PCDHGA1 +2 more (P540S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399113	NM_018916.4(PCDHGA3):c.1696G>T (p.Ala566Ser)	PCDHG@, PCDHGA1 +2 more (A566S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209907	NM_018916.4(PCDHGA3):c.1753G>A (p.Gly585Ser)	PCDHG@, PCDHGA1 +2 more (G585S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209908	NM_018916.4(PCDHGA3):c.1763T>C (p.Val588Ala)	PCDHG@, PCDHGA1 +2 more (V588A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209909	NM_018916.4(PCDHGA3):c.1803C>A (p.Asn601Lys)	PCDHG@, PCDHGA1 +2 more (N601K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569464	NM_018916.4(PCDHGA3):c.1852T>G (p.Ser618Ala)	PCDHG@, PCDHGA1 +2 more (S618A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304942	NM_018916.4(PCDHGA3):c.1868C>G (p.Thr623Arg)	PCDHG@, PCDHGA1 +2 more (T623R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623480	NM_018916.4(PCDHGA3):c.1876G>A (p.Val626Met)	PCDHG@, PCDHGA1 +2 more (V626M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513578	NM_018916.4(PCDHGA3):c.1877T>A (p.Val626Glu)	PCDHG@, PCDHGA1 +2 more (V626E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311992	NM_018916.4(PCDHGA3):c.1907A>G (p.Asp636Gly)	PCDHG@, PCDHGA1 +2 more (D636G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353778	NM_018916.4(PCDHGA3):c.1982C>T (p.Thr661Ile)	PCDHG@, PCDHGA1 +2 more (T661I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308890	NM_018916.4(PCDHGA3):c.2005C>T (p.Pro669Ser)	PCDHG@, PCDHGA1 +2 more (P669S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409456	NM_018916.4(PCDHGA3):c.2138C>T (p.Ala713Val)	PCDHG@, PCDHGA1 +2 more (A713V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392940	NM_018916.4(PCDHGA3):c.2150G>A (p.Arg717Gln)	PCDHG@, PCDHGA1 +2 more (R717Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552383	NM_018916.4(PCDHGA3):c.2220T>A (p.Phe740Leu)	PCDHG@, PCDHGA1 +2 more (F740L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260723	NM_018916.4(PCDHGA3):c.2225G>A (p.Gly742Asp)	PCDHG@, PCDHGA1 +2 more (G742D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209910	NM_018916.4(PCDHGA3):c.2258A>T (p.Tyr753Phe)	PCDHG@, PCDHGA1 +2 more (Y753F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286190	NM_018916.4(PCDHGA3):c.2282C>A (p.Ala761Glu)	PCDHG@, PCDHGA1 +2 more (A761E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359251	NM_018916.4(PCDHGA3):c.2297G>T (p.Ser766Ile)	PCDHG@, PCDHGA1 +2 more (S766I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494513	NM_018916.4(PCDHGA3):c.2365G>C (p.Glu789Gln)	PCDHG@, PCDHGA1 +2 more (E789Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257814	NM_018916.4(PCDHGA3):c.2395G>A (p.Glu799Lys)	PCDHG@, PCDHGA1 +2 more (E799K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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

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