PCDHGA4[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 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
Select item 2209268	NM_018917.4(PCDHGA4):c.1203C>A (p.Asn401Lys)	PCDHG@, PCDHGA1 +4 more (N401K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304949	NM_018917.4(PCDHGA4):c.1208A>G (p.His403Arg)	PCDHG@, PCDHGA1 +4 more (H403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209919	NM_018917.4(PCDHGA4):c.1223G>A (p.Gly408Glu)	PCDHG@, PCDHGA1 +4 more (G408E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548921	NM_018917.4(PCDHGA4):c.1249A>G (p.Ile417Val)	PCDHG@, PCDHGA1 +4 more (I417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209920	NM_018917.4(PCDHGA4):c.1268T>G (p.Phe423Cys)	PCDHG@, PCDHGA1 +4 more (F423C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268261	NM_018917.4(PCDHGA4):c.1309A>T (p.Thr437Ser)	PCDHG@, PCDHGA1 +4 more (T437S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209921	NM_018917.4(PCDHGA4):c.1316G>C (p.Arg439Thr)	PCDHG@, PCDHGA1 +4 more (R439T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211405	NM_018917.4(PCDHGA4):c.1346A>G (p.Tyr449Cys)	PCDHG@, PCDHGA1 +4 more (Y449C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278257	NM_018917.4(PCDHGA4):c.1348A>G (p.Asn450Asp)	PCDHG@, PCDHGA1 +4 more (N450D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218228	NM_018917.4(PCDHGA4):c.1363G>A (p.Ala455Thr)	PCDHG@, PCDHGA1 +4 more (A455T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377840	NM_018917.4(PCDHGA4):c.1469C>T (p.Ala490Val)	PCDHG@, PCDHGA1 +4 more (A490V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328795	NM_018917.4(PCDHGA4):c.1499C>T (p.Ala500Val)	PCDHG@, PCDHGA1 +4 more (A500V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209456	NM_018917.4(PCDHGA4):c.1658A>C (p.Tyr553Ser)	PCDHG@, PCDHGA1 +4 more (Y553S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209922	NM_018917.4(PCDHGA4):c.1724G>T (p.Ser575Ile)	PCDHG@, PCDHGA1 +4 more (S575I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209923	NM_018917.4(PCDHGA4):c.1777A>C (p.Ile593Leu)	PCDHG@, PCDHGA1 +4 more (I593L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324089	NM_018917.4(PCDHGA4):c.1820A>G (p.Glu607Gly)	PCDHG@, PCDHGA1 +4 more (E607G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282752	NM_018917.4(PCDHGA4):c.1865T>C (p.Val622Ala)	PCDHG@, PCDHGA1 +4 more (V622A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304948	NM_018917.4(PCDHGA4):c.1984G>A (p.Ala662Thr)	PCDHG@, PCDHGA1 +4 more (A662T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209924	NM_018917.4(PCDHGA4):c.2002G>A (p.Ala668Thr)	PCDHG@, PCDHGA1 +4 more (A668T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209925	NM_018917.4(PCDHGA4):c.2051C>T (p.Pro684Leu)	PCDHG@, PCDHGA1 +4 more (P684L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209927	NM_018917.4(PCDHGA4):c.2114A>G (p.Asp705Gly)	PCDHG@, PCDHGA1 +4 more (D705G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385730	NM_018917.4(PCDHGA4):c.2188G>A (p.Ala730Thr)	PCDHG@, PCDHGA1 +4 more (A730T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304952	NM_018917.4(PCDHGA4):c.2230G>A (p.Ala744Thr)	PCDHG@, PCDHGA1 +4 more (A744T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622269	NM_018917.4(PCDHGA4):c.2290G>T (p.Ala764Ser)	PCDHG@, PCDHGA1 +4 more (A764S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209928	NM_018917.4(PCDHGA4):c.2342T>C (p.Leu781Pro)	PCDHG@, PCDHGA1 +4 more (L781P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366176	NM_018917.4(PCDHGA4):c.2345A>T (p.Gln782Leu)	PCDHG@, PCDHGA1 +4 more (Q782L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616069	NM_018917.4(PCDHGA4):c.2368C>G (p.Leu790Val)	PCDHG@, PCDHGA1 +4 more (L790V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209929	NM_018917.4(PCDHGA4):c.2375C>G (p.Ala792Gly)	PCDHG@, PCDHGA1 +4 more (A792G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304951	NM_018917.4(PCDHGA4):c.2414G>A (p.Ser805Asn)	PCDHG@, PCDHGA1 +4 more (S805N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2514011	NM_018917.4(PCDHGA4):c.2436C>G (p.Ser812Arg)	PCDHG@, PCDHGA1 +4 more (S812R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285237	NM_018917.4(PCDHGA4):c.2458G>A (p.Glu820Lys)	PCDHG@, PCDHGA1 +4 more (E820K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466807	NM_018917.4(PCDHGA4):c.2462C>T (p.Pro821Leu)	PCDHG@, PCDHGA1 +4 more (P821L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561321	NM_018917.4(PCDHGA4):c.2471T>G (p.Ile824Arg)	PCDHG@, PCDHGA1 +4 more (I824R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553788	NM_018923.3(PCDHGB2):c.83C>G (p.Ala28Gly)	PCDHG@, PCDHGA1 +5 more (A28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259921	NM_018923.3(PCDHGB2):c.106T>C (p.Ser36Pro)	PCDHG@, PCDHGA1 +5 more (S36P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210041	NM_018923.3(PCDHGB2):c.196C>G (p.Leu66Val)	PCDHG@, PCDHGA1 +5 more (L66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319423	NM_018923.3(PCDHGB2):c.224T>G (p.Phe75Cys)	PCDHG@, PCDHGA1 +5 more (F75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305021	NM_018923.3(PCDHGB2):c.252A>T (p.Leu84Phe)	PCDHG@, PCDHGA1 +5 more (L84F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366177	NM_018923.3(PCDHGB2):c.272A>G (p.Asp91Gly)	PCDHG@, PCDHGA1 +5 more (D91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314839	NM_018923.3(PCDHGB2):c.284T>C (p.Ile95Thr)	PCDHG@, PCDHGA1 +5 more (I95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655845	NM_018923.3(PCDHGB2):c.319G>A (p.Asp107Asn)	PCDHG@, PCDHGA1 +5 more (D107N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2540984	NM_018923.3(PCDHGB2):c.320A>T (p.Asp107Val)	PCDHG@, PCDHGA1 +5 more (D107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227704	NM_018923.3(PCDHGB2):c.437C>G (p.Thr146Ser)	PCDHG@, PCDHGA1 +5 more (T146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210042	NM_018923.3(PCDHGB2):c.479C>T (p.Ser160Leu)	PCDHG@, PCDHGA1 +5 more (S160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372948	NM_018923.3(PCDHGB2):c.525C>A (p.Asn175Lys)	PCDHG@, PCDHGA1 +5 more (N175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229477	NM_018923.3(PCDHGB2):c.715C>G (p.Pro239Ala)	PCDHG@, PCDHGA1 +5 more (P239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263101	NM_018923.3(PCDHGB2):c.749C>T (p.Thr250Ile)	PCDHG@, PCDHGA1 +5 more (T250I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210043	NM_018923.3(PCDHGB2):c.760G>C (p.Asp254His)	PCDHG@, PCDHGA1 +5 more (D254H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615103	NM_018923.3(PCDHGB2):c.911A>T (p.Lys304Met)	PCDHG@, PCDHGA1 +5 more (K304M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307452	NM_018923.3(PCDHGB2):c.957C>G (p.Ile319Met)	PCDHG@, PCDHGA1 +5 more (I319M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614830	NM_018923.3(PCDHGB2):c.958G>C (p.Glu320Gln)	PCDHG@, PCDHGA1 +5 more (E320Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605475	NM_018923.3(PCDHGB2):c.1063C>A (p.Pro355Thr)	PCDHG@, PCDHGA1 +5 more (P355T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305018	NM_018923.3(PCDHGB2):c.1070C>T (p.Pro357Leu)	PCDHG@, PCDHGA1 +5 more (P357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210039	NM_018923.3(PCDHGB2):c.1091C>G (p.Thr364Arg)	PCDHG@, PCDHGA1 +5 more (T364R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347801	NM_018923.3(PCDHGB2):c.1163G>A (p.Gly388Glu)	PCDHG@, PCDHGA1 +5 more (G388E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216718	NM_018923.3(PCDHGB2):c.1197G>T (p.Lys399Asn)	PCDHG@, PCDHGA1 +5 more (K399N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222173	NM_018923.3(PCDHGB2):c.1208A>G (p.Lys403Arg)	PCDHG@, PCDHGA1 +5 more (K403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518724	NM_018923.3(PCDHGB2):c.1279G>A (p.Gly427Arg)	PCDHG@, PCDHGA1 +5 more (G427R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489507	NM_018923.3(PCDHGB2):c.1283G>A (p.Gly428Asp)	PCDHG@, PCDHGA1 +5 more (G428D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213636	NM_018923.3(PCDHGB2):c.1339G>A (p.Asp447Asn)	PCDHG@, PCDHGA1 +5 more (D447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305016	NM_018923.3(PCDHGB2):c.1374G>T (p.Met458Ile)	PCDHG@, PCDHGA1 +5 more (M458I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366984	NM_018923.3(PCDHGB2):c.1387G>C (p.Glu463Gln)	PCDHG@, PCDHGA1 +5 more (E463Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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