ClinVar for Gene (Select 9708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242560	NM_018928.3(PCDHGC4):c.549del (p.Lys184fs)	PCDHG@, PCDHGA1 +20 more (K184fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 3238620	NM_018914.3(PCDHGA11):c.1355T>G (p.Val452Gly)	PCDHG@, PCDHGA1 +17 more (V452G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3210144	NM_018929.3(PCDHGC5):c.665G>A (p.Arg222His)	PCDHG@, PCDHGA1 +21 more (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210142	NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile)	PCDHG@, PCDHGA1 +21 more (T184I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210141	NM_018929.3(PCDHGC5):c.520C>T (p.Pro174Ser)	PCDHG@, PCDHGA1 +21 more (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210140	NM_018929.3(PCDHGC5):c.493A>C (p.Asn165His)	PCDHG@, PCDHGA1 +21 more (N165H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210139	NM_018929.3(PCDHGC5):c.479C>T (p.Pro160Leu)	PCDHG@, PCDHGA1 +21 more (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210138	NM_018929.3(PCDHGC5):c.422G>C (p.Arg141Pro)	PCDHG@, PCDHGA1 +21 more (R141P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210137	NM_018929.3(PCDHGC5):c.352C>T (p.Arg118Cys)	PCDHG@, PCDHGA1 +21 more (R118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210136	NM_018929.3(PCDHGC5):c.317T>C (p.Val106Ala)	PCDHG@, PCDHGA1 +21 more (V106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210134	NM_018929.3(PCDHGC5):c.1717C>G (p.His573Asp)	PCDHG@, PCDHGA1 +21 more (H573D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210132	NM_018928.3(PCDHGC4):c.916G>T (p.Gly306Trp)	PCDHG@, PCDHGA1 +20 more (G306W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210131	NM_018928.3(PCDHGC4):c.692C>T (p.Ser231Phe)	PCDHG@, PCDHGA1 +20 more (S231F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210127	NM_018928.3(PCDHGC4):c.1741C>A (p.Pro581Thr)	PCDHG@, PCDHGA1 +20 more (P581T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210126	NM_018928.3(PCDHGC4):c.1327C>T (p.Leu443Phe)	PCDHG@, PCDHGA1 +20 more (L443F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210125	NM_018928.3(PCDHGC4):c.1317A>T (p.Arg439Ser)	PCDHG@, PCDHGA1 +20 more (R439S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210124	NM_018928.3(PCDHGC4):c.1273G>T (p.Val425Phe)	PCDHG@, PCDHGA1 +20 more (V425F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210123	NM_002588.4(PCDHGC3):c.958A>T (p.Ile320Phe)	PCDHG@, PCDHGA1 +19 more (I320F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210122	NM_002588.4(PCDHGC3):c.740C>A (p.Ser247Tyr)	PCDHG@, PCDHGA1 +19 more (S247Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210121	NM_002588.4(PCDHGC3):c.560G>A (p.Arg187Gln)	PCDHG@, PCDHGA1 +19 more (R187Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210120	NM_002588.4(PCDHGC3):c.266A>G (p.Asn89Ser)	PCDHG@, PCDHGA1 +19 more (N89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210119	NM_002588.4(PCDHGC3):c.25G>A (p.Gly9Arg)	PCDHG@, PCDHGA1 +19 more (G9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210118	NM_002588.4(PCDHGC3):c.244G>A (p.Glu82Lys)	PCDHG@, PCDHGA1 +19 more (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210117	NM_002588.4(PCDHGC3):c.2416G>A (p.Ala806Thr)	PCDHG@, PCDHGA1 +19 more (A806T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210116	NM_002588.4(PCDHGC3):c.2350A>C (p.Ser784Arg)	PCDHG@, PCDHGA1 +19 more (S784R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210115	NM_002588.4(PCDHGC3):c.2083C>A (p.Leu695Ile)	PCDHG@, PCDHGA1 +19 more (L695I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210114	NM_002588.4(PCDHGC3):c.2071A>G (p.Thr691Ala)	PCDHG@, PCDHGA1 +19 more (T691A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210113	NM_002588.4(PCDHGC3):c.2048C>G (p.Pro683Arg)	PCDHG@, PCDHGA1 +19 more (P683R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210112	NM_002588.4(PCDHGC3):c.1753T>C (p.Ser585Pro)	PCDHG@, PCDHGA1 +19 more (S585P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210111	NM_002588.4(PCDHGC3):c.1697A>G (p.Gln566Arg)	PCDHG@, PCDHGA1 +19 more (Q566R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210110	NM_018927.4(PCDHGB7):c.956T>C (p.Ile319Thr)	PCDHG@, PCDHGA1 +16 more (I319T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210109	NM_018927.4(PCDHGB7):c.904C>G (p.Leu302Val)	PCDHG@, PCDHGA1 +16 more (L302V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210107	NM_018927.4(PCDHGB7):c.631G>A (p.Val211Ile)	PCDHG@, PCDHGA1 +16 more (V211I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210106	NM_018927.4(PCDHGB7):c.2693A>G (p.Asn898Ser)	PCDHG@, PCDHGA1 +21 more (N905S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210105	NM_018927.4(PCDHGB7):c.2396A>G (p.Asp799Gly)	PCDHG@, PCDHGA1 +16 more (D799G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210104	NM_018927.4(PCDHGB7):c.2284A>G (p.Asn762Asp)	PCDHG@, PCDHGA1 +16 more (N762D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210103	NM_018927.4(PCDHGB7):c.2135C>T (p.Ala712Val)	PCDHG@, PCDHGA1 +16 more (A712V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210102	NM_018927.4(PCDHGB7):c.197T>G (p.Leu66Arg)	PCDHG@, PCDHGA1 +16 more (L66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210101	NM_018927.4(PCDHGB7):c.1901A>T (p.Asp634Val)	PCDHG@, PCDHGA1 +16 more (D634V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210100	NM_018927.4(PCDHGB7):c.182T>C (p.Val61Ala)	PCDHG@, PCDHGA1 +16 more (V61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210099	NM_018927.4(PCDHGB7):c.1463C>T (p.Ser488Phe)	PCDHG@, PCDHGA1 +16 more (S488F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210098	NM_018926.3(PCDHGB6):c.940A>G (p.Arg314Gly)	PCDHG@, PCDHGA1 +14 more (R314G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210096	NM_018926.3(PCDHGB6):c.92A>G (p.Glu31Gly)	PCDHG@, PCDHGA1 +14 more (E31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210095	NM_018926.3(PCDHGB6):c.872T>C (p.Met291Thr)	PCDHG@, PCDHGA1 +14 more (M291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210094	NM_018926.3(PCDHGB6):c.482A>T (p.Asp161Val)	PCDHG@, PCDHGA1 +14 more (D161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210093	NM_018926.3(PCDHGB6):c.478C>G (p.Pro160Ala)	PCDHG@, PCDHGA1 +14 more (P160A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210092	NM_018926.3(PCDHGB6):c.2273A>T (p.His758Leu)	PCDHG@, PCDHGA1 +14 more (H758L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210091	NM_018926.3(PCDHGB6):c.2255A>G (p.Tyr752Cys)	PCDHG@, PCDHGA1 +14 more (Y752C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210090	NM_018926.3(PCDHGB6):c.2222C>A (p.Pro741His)	PCDHG@, PCDHGA1 +14 more (P741H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210089	NM_018926.3(PCDHGB6):c.2131A>G (p.Ile711Val)	PCDHG@, PCDHGA1 +14 more (I711V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210088	NM_018926.3(PCDHGB6):c.202G>C (p.Val68Leu)	PCDHG@, PCDHGA1 +14 more (V68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210087	NM_018926.3(PCDHGB6):c.1624C>T (p.Leu542Phe)	PCDHGB2, PCDHGB3 +14 more (L542F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210086	NM_018926.3(PCDHGB6):c.1372G>C (p.Val458Leu)	PCDHG@, PCDHGA1 +14 more (V458L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210085	NM_018926.3(PCDHGB6):c.1295T>G (p.Leu432Arg)	PCDHG@, PCDHGA1 +14 more (L432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210083	NM_018925.3(PCDHGB5):c.835T>A (p.Tyr279Asn)	PCDHG@, PCDHGA1 +12 more (Y279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210082	NM_018925.3(PCDHGB5):c.813G>C (p.Glu271Asp)	PCDHG@, PCDHGA1 +12 more (E271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210081	NM_018925.3(PCDHGB5):c.79C>T (p.Pro27Ser)	PCDHG@, PCDHGA1 +12 more (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210080	NM_018925.3(PCDHGB5):c.425T>C (p.Ile142Thr)	PCDHG@, PCDHGA1 +12 more (I142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210079	NM_018925.3(PCDHGB5):c.1943C>T (p.Pro648Leu)	PCDHG@, PCDHGA1 +12 more (P648L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210078	NM_018925.3(PCDHGB5):c.1921G>T (p.Ala641Ser)	PCDHG@, PCDHGA1 +12 more (A641S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210077	NM_018925.3(PCDHGB5):c.1454A>T (p.Tyr485Phe)	PCDHG@, PCDHGA1 +12 more (Y485F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210076	NM_018925.3(PCDHGB5):c.1234C>T (p.Pro412Ser)	PCDHG@, PCDHGA1 +12 more (P412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210024	NM_018921.3(PCDHGA9):c.743G>T (p.Arg248Leu)	PCDHG@, PCDHGA1 +13 more (R248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210023	NM_018921.3(PCDHGA9):c.469G>A (p.Ala157Thr)	PCDHG@, PCDHGA1 +13 more (A157T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210020	NM_018921.3(PCDHGA9):c.368T>A (p.Val123Glu)	PCDHG@, PCDHGA1 +13 more (V123E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210019	NM_018921.3(PCDHGA9):c.2160C>A (p.His720Gln)	PCDHG@, PCDHGA1 +13 more (H720Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210018	NM_018921.3(PCDHGA9):c.2098G>A (p.Val700Ile)	PCDHG@, PCDHGA1 +13 more (V700I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210017	NM_018921.3(PCDHGA9):c.2069C>T (p.Thr690Ile)	PCDHG@, PCDHGA1 +13 more (T690I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210016	NM_018921.3(PCDHGA9):c.1964C>T (p.Ser655Leu)	PCDHG@, PCDHGA1 +13 more (S655L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210015	NM_018921.3(PCDHGA9):c.1739G>A (p.Arg580His)	PCDHG@, PCDHGA1 +13 more (R580H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210014	NM_018921.3(PCDHGA9):c.1738C>T (p.Arg580Cys)	PCDHG@, PCDHGA1 +13 more (R580C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210013	NM_018921.3(PCDHGA9):c.1724T>G (p.Val575Gly)	PCDHG@, PCDHGA1 +13 more (V575G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210012	NM_018921.3(PCDHGA9):c.1643T>C (p.Leu548Ser)	PCDHG@, PCDHGA1 +13 more (L548S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210011	NM_018921.3(PCDHGA9):c.1537G>A (p.Val513Met)	PCDHG@, PCDHGA1 +13 more (V513M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210010	NM_018921.3(PCDHGA9):c.1363G>A (p.Ala455Thr)	PCDHG@, PCDHGA1 +13 more (A455T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210009	NM_018921.3(PCDHGA9):c.1340A>G (p.Asp447Gly)	PCDHG@, PCDHGA1 +13 more (D447G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210008	NM_018921.3(PCDHGA9):c.130A>C (p.Ile44Leu)	PCDHG@, PCDHGA1 +13 more (I44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210007	NM_018921.3(PCDHGA9):c.1211T>C (p.Leu404Ser)	PCDHG@, PCDHGA1 +13 more (L404S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210006	NM_032088.2(PCDHGA8):c.931G>A (p.Glu311Lys)	PCDHG@, PCDHGA1 +11 more (E311K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210005	NM_032088.2(PCDHGA8):c.820A>G (p.Asn274Asp)	PCDHG@, PCDHGA1 +11 more (N274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210004	NM_032088.2(PCDHGA8):c.806C>T (p.Pro269Leu)	PCDHG@, PCDHGA1 +11 more (P269L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210003	NM_032088.2(PCDHGA8):c.640G>A (p.Ala214Thr)	PCDHG@, PCDHGA1 +11 more (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210002	NM_032088.2(PCDHGA8):c.442C>G (p.Pro148Ala)	PCDHG@, PCDHGA1 +11 more (P148A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210001	NM_032088.2(PCDHGA8):c.37C>A (p.Leu13Met)	PCDHG@, PCDHGA1 +11 more (L13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210000	NM_032088.2(PCDHGA8):c.293A>C (p.Gln98Pro)	PCDHG@, PCDHGA1 +11 more (Q98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209999	NM_032088.2(PCDHGA8):c.280G>A (p.Glu94Lys)	PCDHG@, PCDHGA1 +11 more (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209998	NM_032088.2(PCDHGA8):c.2420G>A (p.Gly807Asp)	PCDHG@, PCDHGA1 +11 more (G807D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209997	NM_032088.2(PCDHGA8):c.2279C>T (p.Thr760Ile)	PCDHG@, PCDHGA1 +11 more (T760I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209996	NM_032088.2(PCDHGA8):c.2246T>C (p.Phe749Ser)	PCDHG@, PCDHGA1 +11 more (F749S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209995	NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg)	PCDHG@, PCDHGA1 +11 more (P684R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209994	NM_032088.2(PCDHGA8):c.163G>A (p.Asp55Asn)	PCDHG@, PCDHGA1 +11 more (D55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209993	NM_032088.2(PCDHGA8):c.1556C>T (p.Ser519Phe)	PCDHG@, PCDHGA1 +11 more (S519F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209992	NM_032088.2(PCDHGA8):c.1523A>C (p.Asn508Thr)	PCDHG@, PCDHGA1 +11 more (N508T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209991	NM_032088.2(PCDHGA8):c.1474A>C (p.Thr492Pro)	PCDHG@, PCDHGA1 +11 more (T492P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209990	NM_032088.2(PCDHGA8):c.1318C>G (p.Leu440Val)	PCDHG@, PCDHGA1 +11 more (L440V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209886	NM_003735.3(PCDHGA12):c.985G>A (p.Ala329Thr)	PCDHG@, PCDHGA1 +18 more (A329T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209885	NM_003735.3(PCDHGA12):c.913G>A (p.Gly305Arg)	PCDHG@, PCDHGA1 +18 more (G305R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209884	NM_003735.3(PCDHGA12):c.821A>G (p.Asn274Ser)	PCDHG@, PCDHGA1 +18 more (N274S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209883	NM_003735.3(PCDHGA12):c.657C>G (p.Asp219Glu)	PCDHG@, PCDHGA1 +18 more (D219E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209882	NM_003735.3(PCDHGA12):c.616G>T (p.Ala206Ser)	PCDHG@, PCDHGA1 +18 more (A206S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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