"Ambry Genetics"[submitter] AND "PCDHGA5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2249014	NM_018918.3(PCDHGA5):c.143T>C (p.Ile48Thr)	PCDHGA2, PCDHGA4 +6 more (I48T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2273200	NM_018918.3(PCDHGA5):c.199G>A (p.Val67Ile)	PCDHGA3, PCDHGA4 +6 more (V67I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2399007	NM_018918.3(PCDHGA5):c.275G>A (p.Arg92Gln)	PCDHGA1, PCDHGA3 +6 more (R92Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615200	NM_018918.3(PCDHGA5):c.283C>G (p.Leu95Val)	PCDHGA4, PCDHG@ +6 more (L95V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334313	NM_018918.3(PCDHGA5):c.301C>G (p.Leu101Val)	PCDHGB2, PCDHG@ +6 more (L101V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2342554	NM_018918.3(PCDHGA5):c.524A>G (p.Asn175Ser)	PCDHGB1, PCDHGA3 +6 more (N175S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2508416	NM_018918.3(PCDHGA5):c.638C>T (p.Thr213Ile)	PCDHG@, PCDHGA1 +6 more (T213I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351789	NM_018918.3(PCDHGA5):c.679C>T (p.His227Tyr)	PCDHG@, PCDHGA2 +6 more (H227Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234425	NM_018918.3(PCDHGA5):c.728C>A (p.Thr243Asn)	PCDHGA3, PCDHGB1 +6 more (T243N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2241980	NM_018918.3(PCDHGA5):c.997G>C (p.Val333Leu)	PCDHGB1, PCDHGA1 +6 more (V333L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2299500	NM_018918.3(PCDHGA5):c.1193T>C (p.Val398Ala)	PCDHG@, PCDHGA2 +6 more (V398A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403843	NM_018918.3(PCDHGA5):c.1225G>T (p.Asp409Tyr)	PCDHGA1, PCDHGB1 +6 more (D409Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306511	NM_018918.3(PCDHGA5):c.1235G>A (p.Arg412Lys)	PCDHGA4, PCDHG@ +6 more (R412K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2333247	NM_018918.3(PCDHGA5):c.1336A>G (p.Asn446Asp)	PCDHGA4, PCDHG@ +6 more (N446D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320004	NM_018918.3(PCDHGA5):c.1349C>T (p.Pro450Leu)	PCDHGA5, PCDHG@ +6 more (P450L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218284	NM_018918.3(PCDHGA5):c.1409C>A (p.Ser470Tyr)	PCDHGA2, PCDHGA5 +6 more (S470Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2236955	NM_018918.3(PCDHGA5):c.1448A>G (p.Asp483Gly)	PCDHGA4, PCDHG@ +6 more (D483G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282583	NM_018918.3(PCDHGA5):c.1453G>T (p.Ala485Ser)	PCDHGA4, PCDHGB1 +6 more (A485S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403844	NM_018918.3(PCDHGA5):c.1495G>T (p.Ala499Ser)	PCDHG@, PCDHGB2 +6 more (A499S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2331269	NM_018918.3(PCDHGA5):c.1771G>A (p.Val591Met)	PCDHGB2, PCDHGA4 +6 more (V591M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407233	NM_018918.3(PCDHGA5):c.2045T>C (p.Ile682Thr)	PCDHGB2, PCDHGA5 +6 more (I682T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2523487	NM_018918.3(PCDHGA5):c.2071C>T (p.Leu691Phe)	PCDHG@, PCDHGA1 +6 more (L691F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2346459	NM_018918.3(PCDHGA5):c.2107G>A (p.Val703Ile)	PCDHG@, PCDHGA4 +6 more (V703I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592747	NM_018918.3(PCDHGA5):c.2188A>G (p.Ser730Gly)	PCDHGA4, PCDHGB1 +6 more (S730G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2229987	NM_018918.3(PCDHGA5):c.2227G>T (p.Val743Leu)	PCDHGA1, PCDHGA3 +6 more (V743L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401081	NM_018918.3(PCDHGA5):c.2242G>A (p.Ala748Thr)	PCDHGB2, PCDHG@ +6 more (A748T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475691	NM_018918.3(PCDHGA5):c.2273C>G (p.Ser758Cys)	PCDHG@, PCDHGA1 +6 more (S758C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362939	NM_018918.3(PCDHGA5):c.2276T>A (p.Leu759His)	PCDHGA5, PCDHGB1 +6 more (L759H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236424	NM_018918.3(PCDHGA5):c.2288C>T (p.Ser763Leu)	PCDHGA1, PCDHGA2 +6 more (S763L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460357	NM_018918.3(PCDHGA5):c.2350A>T (p.Ser784Cys)	PCDHG@, PCDHGA1 +6 more (S784C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331543	NM_018918.3(PCDHGA5):c.2390T>C (p.Val797Ala)	PCDHGA5, PCDHGB2 +6 more (V797A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486767	NM_018924.5(PCDHGB3):c.32C>T (p.Ala11Val)	PCDHGA5, PCDHGA3 +7 more (A11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2622300	NM_018924.5(PCDHGB3):c.250T>A (p.Leu84Ile)	PCDHGB3, PCDHG@ +7 more (L84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388541	NM_018924.5(PCDHGB3):c.266G>T (p.Arg89Leu)	PCDHGA2, PCDHGA1 +7 more (R89L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338008	NM_018924.5(PCDHGB3):c.275G>T (p.Arg92Leu)	PCDHGA5, PCDHG@ +7 more (R92L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593656	NM_018924.5(PCDHGB3):c.299C>G (p.Ser100Trp)	PCDHG@, PCDHGA5 +7 more (S100W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274408	NM_018924.5(PCDHGB3):c.311T>C (p.Leu104Pro)	PCDHGA1, PCDHGA5 +7 more (L104P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372350	NM_018924.5(PCDHGB3):c.410T>C (p.Ile137Thr)	PCDHGB1, PCDHGB2 +7 more (I137T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226611	NM_018924.5(PCDHGB3):c.536C>T (p.Ser179Phe)	PCDHGB1, PCDHGA1 +7 more (S179F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2512994	NM_018924.5(PCDHGB3):c.815G>A (p.Gly272Asp)	PCDHG@, PCDHGA1 +7 more (G272D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2410605	NM_018924.5(PCDHGB3):c.1033C>G (p.Pro345Ala)	PCDHGA1, PCDHGA4 +7 more (P345A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454930	NM_018924.5(PCDHGB3):c.1135A>G (p.Asn379Asp)	PCDHG@, PCDHGA1 +7 more (N379D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2250709	NM_018924.5(PCDHGB3):c.1340A>G (p.Asp447Gly)	PCDHGB3, PCDHG@ +7 more (D447G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331271	NM_018924.5(PCDHGB3):c.1436C>G (p.Pro479Arg)	PCDHGB3, PCDHGA2 +7 more (P479R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365196	NM_018924.5(PCDHGB3):c.1452T>A (p.Asn484Lys)	PCDHGB3, PCDHGA4 +7 more (N484K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399066	NM_018924.5(PCDHGB3):c.1496G>A (p.Arg499Gln)	PCDHGA2, PCDHGA4 +7 more (R499Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284312	NM_018924.5(PCDHGB3):c.1513G>T (p.Val505Leu)	PCDHGB1, PCDHGA5 +7 more (V505L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357586	NM_018924.5(PCDHGB3):c.1519G>A (p.Val507Met)	PCDHGB3, PCDHGA4 +7 more (V507M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362242	NM_018924.5(PCDHGB3):c.1528C>T (p.Arg510Trp)	PCDHGA2, PCDHGA3 +7 more (R510W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2602233	NM_018924.5(PCDHGB3):c.1648G>A (p.Val550Met)	PCDHG@, PCDHGA1 +7 more (V550M)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392430	NM_018924.5(PCDHGB3):c.1660G>T (p.Asp554Tyr)	PCDHGB2, PCDHGB1 +7 more (D554Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308118	NM_018924.5(PCDHGB3):c.1679C>T (p.Pro560Leu)	PCDHG@, PCDHGB2 +7 more (P560L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2291299	NM_018924.5(PCDHGB3):c.1801A>G (p.Asn601Asp)	PCDHGA3, PCDHGB3 +7 more (N601D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302666	NM_018924.5(PCDHGB3):c.1854C>G (p.Ser618Arg)	PCDHGB2, PCDHGA1 +7 more (S618R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284717	NM_018924.5(PCDHGB3):c.1875G>C (p.Glu625Asp)	PCDHGA1, PCDHGA3 +7 more (E625D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360013	NM_018924.5(PCDHGB3):c.1892C>T (p.Thr631Ile)	PCDHGA2, PCDHGB3 +7 more (T631I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306611	NM_018924.5(PCDHGB3):c.2032C>A (p.Arg678Ser)	PCDHGA3, PCDHGB3 +7 more (R678S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252825	NM_018924.5(PCDHGB3):c.2180T>G (p.Phe727Cys)	PCDHGA5, PCDHG@ +7 more (F727C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2281921	NM_018919.3(PCDHGA6):c.18G>C (p.Arg6Ser)	PCDHGA4, PCDHGA5 +8 more (R6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291396	NM_018919.3(PCDHGA6):c.49C>A (p.Leu17Ile)	PCDHG@, PCDHGA3 +8 more (L17I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399204	NM_018919.3(PCDHGA6):c.56T>C (p.Leu19Pro)	PCDHGA5, PCDHG@ +8 more (L19P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264268	NM_018919.3(PCDHGA6):c.179C>A (p.Ala60Glu)	PCDHGA4, PCDHGB2 +8 more (A60E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372225	NM_018919.3(PCDHGA6):c.277G>A (p.Glu93Lys)	PCDHGB1, PCDHG@ +8 more (E93K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268972	NM_018919.3(PCDHGA6):c.292C>A (p.Gln98Lys)	PCDHGA1, PCDHGB1 +8 more (Q98K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484773	NM_018919.3(PCDHGA6):c.407A>G (p.Glu136Gly)	PCDHGA3, PCDHGA4 +8 more (E136G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356445	NM_018919.3(PCDHGA6):c.451C>G (p.Arg151Gly)	PCDHGB1, PCDHG@ +8 more (R151G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253983	NM_018919.3(PCDHGA6):c.464T>C (p.Met155Thr)	PCDHG@, PCDHGA4 +8 more (M155T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2596410	NM_018919.3(PCDHGA6):c.476A>C (p.Asp159Ala)	PCDHGA2, PCDHG@ +8 more (D159A)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616186	NM_018919.3(PCDHGA6):c.518G>C (p.Ser173Thr)	PCDHG@, PCDHGA1 +8 more (S173T)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228105	NM_018919.3(PCDHGA6):c.688G>A (p.Val230Ile)	PCDHGA2, PCDHGB2 +8 more (V230I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462777	NM_018919.3(PCDHGA6):c.885T>G (p.Asn295Lys)	PCDHGB2, PCDHGB3 +8 more (N295K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306801	NM_018919.3(PCDHGA6):c.895G>C (p.Gly299Arg)	PCDHGA1, PCDHGB2 +8 more (G299R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2382460	NM_018919.3(PCDHGA6):c.1193T>C (p.Val398Ala)	PCDHGA4, PCDHG@ +8 more (V398A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2599612	NM_018919.3(PCDHGA6):c.1259T>A (p.Ile420Asn)	PCDHGA3, PCDHGA4 +8 more (I420N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235459	NM_018919.3(PCDHGA6):c.1286C>A (p.Thr429Lys)	PCDHGA3, PCDHGB3 +8 more (T429K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227649	NM_018919.3(PCDHGA6):c.1291C>A (p.Pro431Thr)	PCDHGA3, PCDHG@ +8 more (P431T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528410	NM_018919.3(PCDHGA6):c.1312A>T (p.Ile438Phe)	PCDHGA6, PCDHGB1 +8 more (I438F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395326	NM_018919.3(PCDHGA6):c.1358C>T (p.Pro453Leu)	PCDHGA6, PCDHGB3 +8 more (P453L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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