"Ambry Genetics"[submitter] AND "PCDHGA6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2362940	NM_018919.3(PCDHGA6):c.1472T>G (p.Leu491Arg)	PCDHGB3, PCDHGA5 +8 more (L491R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363958	NM_018919.3(PCDHGA6):c.1635C>A (p.Asn545Lys)	PCDHGA5, PCDHG@ +8 more (N545K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334314	NM_018919.3(PCDHGA6):c.1647C>A (p.Ser549Arg)	PCDHG@, PCDHGA4 +8 more (S549R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2280880	NM_018919.3(PCDHGA6):c.1744G>T (p.Ala582Ser)	PCDHGB1, PCDHGA4 +8 more (A582S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2349115	NM_018919.3(PCDHGA6):c.1978C>G (p.Leu660Val)	PCDHGB3, PCDHGA6 +8 more (L660V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2388153	NM_018919.3(PCDHGA6):c.2149C>A (p.Gln717Lys)	PCDHGA1, PCDHGA5 +8 more (Q717K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263275	NM_018919.3(PCDHGA6):c.2206C>T (p.Pro736Ser)	PCDHGA4, PCDHGB3 +8 more (P736S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352063	NM_018919.3(PCDHGA6):c.2217C>G (p.His739Gln)	PCDHGB2, PCDHGB1 +8 more (H739Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486866	NM_018919.3(PCDHGA6):c.2252A>G (p.Gln751Arg)	PCDHGA1, PCDHGA3 +8 more (Q751R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376246	NM_018919.3(PCDHGA6):c.2269G>A (p.Val757Ile)	PCDHGA2, PCDHGA3 +8 more (V757I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228086	NM_018919.3(PCDHGA6):c.2291G>T (p.Arg764Leu)	PCDHGB2, PCDHGA5 +8 more (R764L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469401	NM_018919.3(PCDHGA6):c.2303T>G (p.Leu768Arg)	PCDHG@, PCDHGA1 +8 more (L768R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343852	NM_018919.3(PCDHGA6):c.2348A>T (p.Glu783Val)	PCDHGA4, PCDHGA5 +8 more (E783V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461087	NM_018919.3(PCDHGA6):c.2354A>G (p.Tyr785Cys)	PCDHGA2, PCDHG@ +8 more (Y785C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405075	NM_018920.4(PCDHGA7):c.70T>C (p.Trp24Arg)	PCDHGA2, PCDHGB1 +9 more (W24R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603148	NM_018920.4(PCDHGA7):c.131T>C (p.Phe44Ser)	PCDHG@, PCDHGA1 +9 more (F44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496355	NM_018920.4(PCDHGA7):c.136G>A (p.Gly46Arg)	PCDHG@, PCDHGA1 +9 more (G46R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233101	NM_018920.4(PCDHGA7):c.193C>T (p.Arg65Cys)	PCDHG@, PCDHGA7 +9 more (R65C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392894	NM_018920.4(PCDHGA7):c.253G>A (p.Val85Ile)	PCDHGA1, PCDHGA5 +9 more (V85I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244773	NM_018920.4(PCDHGA7):c.302G>T (p.Arg101Leu)	PCDHGB1, PCDHGA2 +9 more (R101L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368343	NM_018920.4(PCDHGA7):c.361G>A (p.Val121Met)	PCDHGA7, PCDHGA3 +9 more (V121M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391641	NM_018920.4(PCDHGA7):c.371T>C (p.Ile124Thr)	PCDHGA3, PCDHGA2 +9 more (I124T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330891	NM_018920.4(PCDHGA7):c.373G>A (p.Asp125Asn)	PCDHGA2, PCDHGA7 +9 more (D125N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378850	NM_018920.4(PCDHGA7):c.506G>A (p.Ser169Asn)	PCDHGB1, PCDHGA7 +9 more (S169N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245444	NM_018920.4(PCDHGA7):c.506G>T (p.Ser169Ile)	PCDHGA2, PCDHG@ +9 more (S169I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253857	NM_018920.4(PCDHGA7):c.619G>A (p.Val207Ile)	PCDHGB3, PCDHGA6 +9 more (V207I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2348299	NM_018920.4(PCDHGA7):c.718C>T (p.Pro240Ser)	PCDHG@, PCDHGA7 +9 more (P240S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240113	NM_018920.4(PCDHGA7):c.1258A>G (p.Ile420Val)	PCDHGA1, PCDHGB3 +9 more (I420V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280189	NM_018920.4(PCDHGA7):c.1286C>A (p.Thr429Asn)	PCDHGA4, PCDHGA1 +9 more (T429N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546087	NM_018920.4(PCDHGA7):c.1306A>G (p.Thr436Ala)	PCDHG@, PCDHGA1 +9 more (T436A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405903	NM_018920.4(PCDHGA7):c.1372T>G (p.Ser458Ala)	PCDHGA2, PCDHG@ +9 more (S458A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520462	NM_018920.4(PCDHGA7):c.1474G>A (p.Ala492Thr)	PCDHGA5, PCDHG@ +9 more (A492T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287192	NM_018920.4(PCDHGA7):c.1475C>T (p.Ala492Val)	PCDHGB1, PCDHGB2 +9 more (A492V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372226	NM_018920.4(PCDHGA7):c.1572G>T (p.Gln524His)	PCDHG@, PCDHGB3 +9 more (Q524H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601276	NM_018920.4(PCDHGA7):c.1640C>T (p.Ser547Leu)	PCDHG@, PCDHGA1 +9 more (S547L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340286	NM_018920.4(PCDHGA7):c.1804G>C (p.Ala602Pro)	PCDHGB1, PCDHGA1 +9 more (A602P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292098	NM_018920.4(PCDHGA7):c.1837G>A (p.Glu613Lys)	PCDHGA7, PCDHG@ +9 more (E613K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262076	NM_018920.4(PCDHGA7):c.1895T>A (p.Leu632Gln)	PCDHGA6, PCDHGB1 +9 more (L632Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388977	NM_018920.4(PCDHGA7):c.1928T>A (p.Val643Glu)	PCDHGA1, PCDHG@ +9 more (V643E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294682	NM_018920.4(PCDHGA7):c.1972G>A (p.Val658Ile)	PCDHGB3, PCDHG@ +9 more (V658I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382218	NM_018920.4(PCDHGA7):c.2138C>A (p.Ala713Glu)	PCDHGA5, PCDHGA7 +9 more (A713E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357584	NM_018920.4(PCDHGA7):c.2212T>G (p.Ser738Ala)	PCDHGA6, PCDHGA5 +9 more (S738A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299779	NM_018920.4(PCDHGA7):c.2213C>T (p.Ser738Leu)	PCDHGA1, PCDHG@ +9 more (S738L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291128	NM_018920.4(PCDHGA7):c.2232C>A (p.Asp744Glu)	PCDHGB2, PCDHGB1 +9 more (D744E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310815	NM_018920.4(PCDHGA7):c.2237T>C (p.Val746Ala)	PCDHGA2, PCDHGA1 +9 more (V746A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220109	NM_018920.4(PCDHGA7):c.2246T>C (p.Phe749Ser)	PCDHGA2, PCDHGA6 +9 more (F749S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622420	NM_018920.4(PCDHGA7):c.2275C>T (p.Leu759Phe)	PCDHG@, PCDHGA1 +9 more (L759F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589983	NM_018920.4(PCDHGA7):c.2281G>A (p.Ala761Thr)	PCDHG@, PCDHGA1 +9 more (A761T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592748	NM_018920.4(PCDHGA7):c.2282C>A (p.Ala761Glu)	PCDHGA3, PCDHGA4 +9 more (A761E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365320	NM_018920.4(PCDHGA7):c.2326G>A (p.Val776Ile)	PCDHGA5, PCDHGA7 +9 more (V776I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229237	NM_003736.4(PCDHGB4):c.280G>A (p.Glu94Lys)	PCDHGA1, PCDHGB2 +10 more (E94K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260765	NM_003736.4(PCDHGB4):c.326T>C (p.Val109Ala)	PCDHGA2, PCDHGB2 +10 more (V109A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327936	NM_003736.4(PCDHGB4):c.442C>A (p.Pro148Thr)	PCDHGB2, PCDHG@ +10 more (P148T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361604	NM_003736.4(PCDHGB4):c.719C>T (p.Pro240Leu)	PCDHGA5, PCDHGB2 +10 more (P240L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218824	NM_003736.4(PCDHGB4):c.767A>G (p.Tyr256Cys)	PCDHGA6, PCDHGA1 +10 more (Y256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527154	NM_003736.4(PCDHGB4):c.811G>A (p.Glu271Lys)	PCDHG@, PCDHGA1 +10 more (E271K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278534	NM_003736.4(PCDHGB4):c.824C>A (p.Ala275Asp)	PCDHGB3, PCDHGA2 +10 more (A275D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608129	NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro)	PCDHGB3, PCDHGB4 +10 more (S280P)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531042	NM_003736.4(PCDHGB4):c.962A>G (p.Asp321Gly)	PCDHG@, PCDHGA1 +10 more (D321G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342253	NM_003736.4(PCDHGB4):c.991G>T (p.Val331Leu)	PCDHGA7, PCDHGB4 +10 more (V331L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533102	NM_003736.4(PCDHGB4):c.1043A>G (p.Gln348Arg)	PCDHG@, PCDHGA1 +10 more (Q348R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322868	NM_003736.4(PCDHGB4):c.1070A>G (p.Asp357Gly)	PCDHGA7, PCDHGA6 +10 more (D357G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509308	NM_003736.4(PCDHGB4):c.1082G>T (p.Gly361Val)	PCDHGB3, PCDHGB4 +10 more (G361V)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479736	NM_003736.4(PCDHGB4):c.1113C>G (p.Asp371Glu)	PCDHGA6, PCDHGA3 +10 more (D371E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493633	NM_003736.4(PCDHGB4):c.1121C>T (p.Ser374Phe)	PCDHG@, PCDHGA1 +10 more (S374F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246424	NM_003736.4(PCDHGB4):c.1237A>G (p.Asn413Asp)	PCDHGA5, PCDHGA2 +10 more (N413D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401735	NM_003736.4(PCDHGB4):c.1355A>G (p.Gln452Arg)	PCDHG@, PCDHGA6 +10 more (Q452R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544331	NM_003736.4(PCDHGB4):c.1369G>T (p.Val457Phe)	PCDHG@, PCDHGA1 +10 more (V457F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208905	NM_003736.4(PCDHGB4):c.1439G>T (p.Gly480Val)	PCDHGB3, PCDHGB1 +10 more (G480V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543172	NM_003736.4(PCDHGB4):c.1466T>G (p.Ile489Ser)	PCDHG@, PCDHGA1 +10 more (I489S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321768	NM_003736.4(PCDHGB4):c.1505A>C (p.Tyr502Ser)	PCDHGA3, PCDHGA7 +10 more (Y502S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529100	NM_003736.4(PCDHGB4):c.1528G>A (p.Gly510Arg)	PCDHG@, PCDHGA1 +10 more (G510R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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