PCDHGA7[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 2405075	NM_018920.4(PCDHGA7):c.70T>C (p.Trp24Arg)	PCDHG@, PCDHGA1 +9 more (W24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209988	NM_018920.4(PCDHGA7):c.98A>G (p.Tyr33Cys)	PCDHG@, PCDHGA1 +9 more (Y33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209975	NM_018920.4(PCDHGA7):c.103G>A (p.Val35Met)	PCDHG@, PCDHGA1 +9 more (V35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209976	NM_018920.4(PCDHGA7):c.107C>T (p.Ser36Leu)	PCDHG@, PCDHGA1 +9 more (S36L)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2233101	NM_018920.4(PCDHGA7):c.193C>T (p.Arg65Cys)	PCDHG@, PCDHGA1 +9 more (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392894	NM_018920.4(PCDHGA7):c.253G>A (p.Val85Ile)	PCDHG@, PCDHGA1 +9 more (V85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244773	NM_018920.4(PCDHGA7):c.302G>T (p.Arg101Leu)	PCDHG@, PCDHGA1 +9 more (R101L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209982	NM_018920.4(PCDHGA7):c.304T>A (p.Cys102Ser)	PCDHG@, PCDHGA1 +9 more (C102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209983	NM_018920.4(PCDHGA7):c.361G>T (p.Val121Leu)	PCDHG@, PCDHGA1 +9 more (V121L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368343	NM_018920.4(PCDHGA7):c.361G>A (p.Val121Met)	PCDHG@, PCDHGA1 +9 more (V121M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391641	NM_018920.4(PCDHGA7):c.371T>C (p.Ile124Thr)	PCDHG@, PCDHGA1 +9 more (I124T)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2330891	NM_018920.4(PCDHGA7):c.373G>A (p.Asp125Asn)	PCDHG@, PCDHGA1 +9 more (D125N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209984	NM_018920.4(PCDHGA7):c.377T>G (p.Ile126Ser)	PCDHG@, PCDHGA1 +9 more (I126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304985	NM_018920.4(PCDHGA7):c.387C>A (p.Asn129Lys)	PCDHG@, PCDHGA1 +9 more (N129K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378850	NM_018920.4(PCDHGA7):c.506G>A (p.Ser169Asn)	PCDHG@, PCDHGA1 +9 more (S169N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245444	NM_018920.4(PCDHGA7):c.506G>T (p.Ser169Ile)	PCDHG@, PCDHGA1 +9 more (S169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209985	NM_018920.4(PCDHGA7):c.524A>G (p.Asn175Ser)	PCDHG@, PCDHGA1 +9 more (N175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304988	NM_018920.4(PCDHGA7):c.592C>T (p.Arg198Trp)	PCDHG@, PCDHGA1 +9 more (R198W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209986	NM_018920.4(PCDHGA7):c.605G>C (p.Arg202Pro)	PCDHG@, PCDHGA1 +9 more (R202P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253857	NM_018920.4(PCDHGA7):c.619G>A (p.Val207Ile)	PCDHG@, PCDHGA1 +9 more (V207I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348299	NM_018920.4(PCDHGA7):c.718C>T (p.Pro240Ser)	PCDHG@, PCDHGA1 +9 more (P240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304981	NM_018920.4(PCDHGA7):c.873G>A (p.Met291Ile)	PCDHG@, PCDHGA1 +9 more (M291I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209987	NM_018920.4(PCDHGA7):c.938C>A (p.Ala313Asp)	PCDHG@, PCDHGA1 +9 more (A313D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209989	NM_018920.4(PCDHGA7):c.991G>A (p.Ala331Thr)	PCDHG@, PCDHGA1 +9 more (A331T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240113	NM_018920.4(PCDHGA7):c.1258A>G (p.Ile420Val)	PCDHG@, PCDHGA1 +9 more (I420V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209977	NM_018920.4(PCDHGA7):c.1282G>A (p.Gly428Arg)	PCDHG@, PCDHGA1 +9 more (G428R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280189	NM_018920.4(PCDHGA7):c.1286C>A (p.Thr429Asn)	PCDHG@, PCDHGA1 +9 more (T429N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304980	NM_018920.4(PCDHGA7):c.1301G>A (p.Arg434Lys)	PCDHG@, PCDHGA1 +9 more (R434K)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3209978	NM_018920.4(PCDHGA7):c.1337A>G (p.Asn446Ser)	PCDHG@, PCDHGA1 +9 more (N446S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405903	NM_018920.4(PCDHGA7):c.1372T>G (p.Ser458Ala)	PCDHG@, PCDHGA1 +9 more (S458A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520462	NM_018920.4(PCDHGA7):c.1474G>A (p.Ala492Thr)	PCDHG@, PCDHGA1 +9 more (A492T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287192	NM_018920.4(PCDHGA7):c.1475C>T (p.Ala492Val)	PCDHG@, PCDHGA1 +9 more (A492V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372226	NM_018920.4(PCDHGA7):c.1572G>T (p.Gln524His)	PCDHG@, PCDHGA1 +9 more (Q524H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304984	NM_018920.4(PCDHGA7):c.1604A>G (p.His535Arg)	PCDHG@, PCDHGA1 +9 more (H535R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601276	NM_018920.4(PCDHGA7):c.1640C>T (p.Ser547Leu)	PCDHG@, PCDHGA1 +9 more (S547L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304982	NM_018920.4(PCDHGA7):c.1750C>T (p.Pro584Ser)	PCDHG@, PCDHGA1 +9 more (P584S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340286	NM_018920.4(PCDHGA7):c.1804G>C (p.Ala602Pro)	PCDHG@, PCDHGA1 +9 more (A602P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292098	NM_018920.4(PCDHGA7):c.1837G>A (p.Glu613Lys)	PCDHG@, PCDHGA1 +9 more (E613K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304987	NM_018920.4(PCDHGA7):c.1883C>T (p.Thr628Met)	PCDHG@, PCDHGA1 +9 more (T628M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262076	NM_018920.4(PCDHGA7):c.1895T>A (p.Leu632Gln)	PCDHG@, PCDHGA1 +9 more (L632Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388977	NM_018920.4(PCDHGA7):c.1928T>A (p.Val643Glu)	PCDHG@, PCDHGA1 +9 more (V643E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294682	NM_018920.4(PCDHGA7):c.1972G>A (p.Val658Ile)	PCDHG@, PCDHGA1 +9 more (V658I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655849	NM_018920.4(PCDHGA7):c.2022C>T (p.Asp674=)	PCDHG@, PCDHGA1 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2382218	NM_018920.4(PCDHGA7):c.2138C>A (p.Ala713Glu)	PCDHG@, PCDHGA1 +9 more (A713E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304986	NM_018920.4(PCDHGA7):c.2163G>T (p.Lys721Asn)	PCDHG@, PCDHGA1 +9 more (K721N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357584	NM_018920.4(PCDHGA7):c.2212T>G (p.Ser738Ala)	PCDHG@, PCDHGA1 +9 more (S738A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299779	NM_018920.4(PCDHGA7):c.2213C>T (p.Ser738Leu)	PCDHGA3, PCDHG@ +9 more (S738L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291128	NM_018920.4(PCDHGA7):c.2232C>A (p.Asp744Glu)	PCDHG@, PCDHGA1 +9 more (D744E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310815	NM_018920.4(PCDHGA7):c.2237T>C (p.Val746Ala)	PCDHG@, PCDHGA1 +9 more (V746A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220109	NM_018920.4(PCDHGA7):c.2246T>C (p.Phe749Ser)	PCDHG@, PCDHGA1 +9 more (F749S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209980	NM_018920.4(PCDHGA7):c.2261C>T (p.Ser754Phe)	PCDHG@, PCDHGA1 +9 more (S754F)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2592748	NM_018920.4(PCDHGA7):c.2282C>A (p.Ala761Glu)	PCDHG@, PCDHGA1 +9 more (A761E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365320	NM_018920.4(PCDHGA7):c.2326G>A (p.Val776Ile)	PCDHG@, PCDHGA1 +9 more (V776I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304983	NM_018920.4(PCDHGA7):c.2381C>G (p.Ser794Cys)	PCDHG@, PCDHGA1 +9 more (S794C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209981	NM_018920.4(PCDHGA7):c.2408A>G (p.Asn803Ser)	PCDHG@, PCDHGA1 +9 more (N803S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229237	NM_003736.4(PCDHGB4):c.280G>A (p.Glu94Lys)	PCDHG@, PCDHGA1 +10 more (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260765	NM_003736.4(PCDHGB4):c.326T>C (p.Val109Ala)	PCDHG@, PCDHGA1 +10 more (V109A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210070	NM_003736.4(PCDHGB4):c.389C>T (p.Thr130Met)	PCDHG@, PCDHGA1 +10 more (T130M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327936	NM_003736.4(PCDHGB4):c.442C>A (p.Pro148Thr)	PCDHG@, PCDHGA1 +10 more (P148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361604	NM_003736.4(PCDHGB4):c.719C>T (p.Pro240Leu)	PCDHG@, PCDHGA1 +10 more (P240L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210071	NM_003736.4(PCDHGB4):c.728G>A (p.Ser243Asn)	PCDHG@, PCDHGA1 +10 more (S243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210072	NM_003736.4(PCDHGB4):c.763G>A (p.Val255Met)	PCDHG@, PCDHGA1 +10 more (V255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218824	NM_003736.4(PCDHGB4):c.767A>G (p.Tyr256Cys)	PCDHG@, PCDHGA1 +10 more (Y256C)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2655850	NM_003736.4(PCDHGB4):c.818T>G (p.Val273Gly)	PCDHG@, PCDHGA1 +10 more (V273G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2278534	NM_003736.4(PCDHGB4):c.824C>A (p.Ala275Asp)	PCDHG@, PCDHGA1 +10 more (A275D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608129	NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro)	PCDHG@, PCDHGA1 +10 more (S280P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210073	NM_003736.4(PCDHGB4):c.944T>C (p.Ile315Thr)	PCDHG@, PCDHGA1 +10 more (I315T)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3210075	NM_003736.4(PCDHGB4):c.977T>C (p.Ile326Thr)	PCDHG@, PCDHGA1 +10 more (I326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342253	NM_003736.4(PCDHGB4):c.991G>T (p.Val331Leu)	PCDHG@, PCDHGA1 +10 more (V331L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305029	NM_003736.4(PCDHGB4):c.1007T>C (p.Ile336Thr)	PCDHG@, PCDHGA1 +10 more (I336T)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3305030	NM_003736.4(PCDHGB4):c.1065G>A (p.Met355Ile)	PCDHG@, PCDHGA1 +10 more (M355I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305032	NM_003736.4(PCDHGB4):c.1067A>G (p.Glu356Gly)	PCDHG@, PCDHGA1 +10 more (E356G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322868	NM_003736.4(PCDHGB4):c.1070A>G (p.Asp357Gly)	PCDHG@, PCDHGA1 +10 more (D357G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509308	NM_003736.4(PCDHGB4):c.1082G>T (p.Gly361Val)	PCDHG@, PCDHGA1 +10 more (G361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479736	NM_003736.4(PCDHGB4):c.1113C>G (p.Asp371Glu)	PCDHG@, PCDHGA1 +10 more (D371E)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3210057	NM_003736.4(PCDHGB4):c.1222C>G (p.Leu408Val)	PCDHG@, PCDHGA1 +10 more (L408V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246424	NM_003736.4(PCDHGB4):c.1237A>G (p.Asn413Asp)	PCDHG@, PCDHGA1 +10 more (N413D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210058	NM_003736.4(PCDHGB4):c.1294T>G (p.Ser432Ala)	PCDHG@, PCDHGA1 +10 more (S432A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401735	NM_003736.4(PCDHGB4):c.1355A>G (p.Gln452Arg)	PCDHG@, PCDHGA1 +10 more (Q452R)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3305028	NM_003736.4(PCDHGB4):c.1383G>C (p.Glu461Asp)	PCDHG@, PCDHGA1 +10 more (E461D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210059	NM_003736.4(PCDHGB4):c.1434C>G (p.Asp478Glu)	PCDHG@, PCDHGA1 +10 more (D478E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210060	NM_003736.4(PCDHGB4):c.1438G>C (p.Gly480Arg)	PCDHG@, PCDHGA1 +10 more (G480R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208905	NM_003736.4(PCDHGB4):c.1439G>T (p.Gly480Val)	PCDHG@, PCDHGA1 +10 more (G480V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305031	NM_003736.4(PCDHGB4):c.1460A>G (p.Tyr487Cys)	PCDHG@, PCDHGA1 +10 more (Y487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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