ClinVar for Gene (Select 56105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305075	NM_018929.3(PCDHGC5):c.1469C>T (p.Thr490Ile)	PCDHG@, PCDHGA1 +21 more (T490I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305074	NM_018929.3(PCDHGC5):c.1309C>T (p.His437Tyr)	PCDHG@, PCDHGA1 +21 more (H437Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305073	NM_018929.3(PCDHGC5):c.2201A>G (p.Gln734Arg)	PCDHG@, PCDHGA1 +21 more (Q734R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305072	NM_018929.3(PCDHGC5):c.1130G>C (p.Arg377Pro)	PCDHG@, PCDHGA1 +21 more (R377P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305070	NM_018929.3(PCDHGC5):c.910G>A (p.Val304Met)	PCDHG@, PCDHGA1 +21 more (V304M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305069	NM_018928.3(PCDHGC4):c.1700G>A (p.Arg567His)	PCDHG@, PCDHGA1 +20 more (R567H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305068	NM_018928.3(PCDHGC4):c.2219G>C (p.Arg740Thr)	PCDHG@, PCDHGA1 +20 more (R740T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305067	NM_018928.3(PCDHGC4):c.1960C>T (p.Pro654Ser)	PCDHG@, PCDHGA1 +20 more (P654S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305066	NM_018928.3(PCDHGC4):c.919C>A (p.Pro307Thr)	PCDHG@, PCDHGA1 +20 more (P307T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305065	NM_018928.3(PCDHGC4):c.1081G>A (p.Glu361Lys)	PCDHG@, PCDHGA1 +20 more (E361K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305064	NM_018928.3(PCDHGC4):c.1955G>A (p.Ser652Asn)	PCDHG@, PCDHGA1 +20 more (S652N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305063	NM_018928.3(PCDHGC4):c.1129C>A (p.Pro377Thr)	PCDHG@, PCDHGA1 +20 more (P377T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305062	NM_002588.4(PCDHGC3):c.1273C>T (p.Leu425Phe)	PCDHG@, PCDHGA1 +19 more (L425F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305061	NM_002588.4(PCDHGC3):c.268G>A (p.Asp90Asn)	PCDHG@, PCDHGA1 +19 more (D90N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305059	NM_002588.4(PCDHGC3):c.1307C>T (p.Ser436Phe)	PCDHGA4, PCDHGA5 +19 more (S436F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305058	NM_002588.4(PCDHGC3):c.2143T>A (p.Phe715Ile)	PCDHG@, PCDHGA1 +19 more (F715I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304933	NM_003735.3(PCDHGA12):c.2093C>G (p.Ala698Gly)	PCDHG@, PCDHGA1 +18 more (A698G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304932	NM_003735.3(PCDHGA12):c.941T>C (p.Phe314Ser)	PCDHG@, PCDHGA1 +18 more (F314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304931	NM_003735.3(PCDHGA12):c.1174T>G (p.Phe392Val)	PCDHG@, PCDHGA1 +18 more (F392V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304930	NM_003735.3(PCDHGA12):c.778C>A (p.Gln260Lys)	PCDHG@, PCDHGA1 +18 more (Q260K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304929	NM_003735.3(PCDHGA12):c.1567G>C (p.Glu523Gln)	PCDHG@, PCDHGA1 +18 more (E523Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304928	NM_003735.3(PCDHGA12):c.1488C>G (p.Ile496Met)	PCDHG@, PCDHGA1 +18 more (I496M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304927	NM_018914.3(PCDHGA11):c.1739C>T (p.Pro580Leu)	PCDHG@, PCDHGA1 +17 more (P580L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304926	NM_018914.3(PCDHGA11):c.2048C>T (p.Ala683Val)	PCDHG@, PCDHGA1 +17 more (A683V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304925	NM_018914.3(PCDHGA11):c.1802A>T (p.Gln601Leu)	PCDHG@, PCDHGA1 +17 more (Q601L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304924	NM_018914.3(PCDHGA11):c.1496G>A (p.Gly499Glu)	PCDHG@, PCDHGA1 +17 more (G499E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304923	NM_018914.3(PCDHGA11):c.308G>C (p.Cys103Ser)	PCDHG@, PCDHGA1 +17 more (C103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304922	NM_018914.3(PCDHGA11):c.2030G>T (p.Gly677Val)	PCDHG@, PCDHGA1 +17 more (G677V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3257596	NM_002588.4(PCDHGC3):c.666A>G (p.Pro222=)	PCDHGA9, PCDHGB1 +19 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3255523	NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs)	PCDHG@, PCDHGA1 +20 more (Q65fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
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 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 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 (intron 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
Select item 3209881	NM_003735.3(PCDHGA12):c.469G>C (p.Ala157Pro)	PCDHG@, PCDHGA1 +18 more (A157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209880	NM_003735.3(PCDHGA12):c.329T>C (p.Met110Thr)	PCDHG@, PCDHGA1 +18 more (M110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209879	NM_003735.3(PCDHGA12):c.1948G>A (p.Gly650Ser)	PCDHG@, PCDHGA1 +18 more (G650S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209878	NM_003735.3(PCDHGA12):c.1702C>T (p.Pro568Ser)	PCDHG@, PCDHGA1 +18 more (P568S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209877	NM_003735.3(PCDHGA12):c.1396C>T (p.Pro466Ser)	PCDHG@, PCDHGA1 +18 more (P466S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209875	NM_003735.3(PCDHGA12):c.1268C>G (p.Thr423Ser)	PCDHG@, PCDHGA1 +18 more (T423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209874	NM_018914.3(PCDHGA11):c.916G>A (p.Gly306Arg)	PCDHG@, PCDHGA1 +17 more (G306R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209873	NM_018914.3(PCDHGA11):c.85G>A (p.Ala29Thr)	PCDHG@, PCDHGA1 +17 more (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209872	NM_018914.3(PCDHGA11):c.523C>A (p.Pro175Thr)	PCDHG@, PCDHGA1 +17 more (P175T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209870	NM_018914.3(PCDHGA11):c.246C>A (p.Ser82Arg)	PCDHG@, PCDHGA1 +17 more (S82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209869	NM_018914.3(PCDHGA11):c.237T>A (p.Asn79Lys)	PCDHG@, PCDHGA1 +17 more (N79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209868	NM_018914.3(PCDHGA11):c.2375T>C (p.Leu792Pro)	PCDHG@, PCDHGA1 +17 more (L792P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209867	NM_018914.3(PCDHGA11):c.2267A>C (p.His756Pro)	PCDHG@, PCDHGA1 +17 more (H756P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209866	NM_018914.3(PCDHGA11):c.2266C>G (p.His756Asp)	PCDHG@, PCDHGA1 +17 more (H756D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209865	NM_018914.3(PCDHGA11):c.2098G>A (p.Ala700Thr)	PCDHG@, PCDHGA1 +17 more (A700T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209864	NM_018914.3(PCDHGA11):c.1777G>T (p.Val593Phe)	PCDHG@, PCDHGA1 +17 more (V593F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209863	NM_018914.3(PCDHGA11):c.1741C>T (p.Arg581Cys)	PCDHG@, PCDHGA1 +17 more (R581C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209861	NM_018914.3(PCDHGA11):c.1213T>G (p.Leu405Val)	PCDHG@, PCDHGA1 +17 more (L405V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209841	NM_018912.3(PCDHGA1):c.2478C>A (p.Ser826Arg)	PCDHG@, PCDHGA1 +21 more (S818R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040571	NM_018928.3(PCDHGC4):c.1868G>A (p.Arg623Gln)	PCDHG@, PCDHGA1 +20 more (R623Q)	Single nucleotide variant (missense variant +1 more)	PCDHGC4-related disorder	GLikely benign
Select item 3025035	NM_018928.3(PCDHGC4):c.1955G>T (p.Ser652Ile)	PCDHG@, PCDHGA1 +20 more (S652I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655867	NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655866	NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu)	PCDHG@, PCDHGA1 +20 more (V698L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655865	NM_003736.4(PCDHGB4):c.2397+42563A>G	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2655864	NM_003735.3(PCDHGA12):c.1656G>A (p.Val552=)	PCDHGA6, PCDHGB5 +18 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655863	NM_003735.3(PCDHGA12):c.1110T>C (p.Asn370=)	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2620508	NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val)	PCDHGA4, PCDHGA5 +21 more (E401V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618431	NM_003735.3(PCDHGA12):c.1869G>A (p.Thr623=)	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2615899	NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His)	PCDHG@, PCDHGA1 +21 more (Q243H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613998	NM_003735.3(PCDHGA12):c.1825C>T (p.Leu609Phe)	PCDHG@, PCDHGA1 +18 more (L609F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611288	NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys)	PCDHG@, PCDHGA1 +21 more (E672K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611235	NM_003735.3(PCDHGA12):c.408T>G (p.Ser136Arg)	PCDHG@, PCDHGA1 +18 more (S136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610229	NM_018928.3(PCDHGC4):c.1433C>A (p.Ala478Glu)	PCDHG@, PCDHGA1 +20 more (A478E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608749	NM_018914.3(PCDHGA11):c.2374C>T (p.Leu792Phe)	PCDHG@, PCDHGA1 +17 more (L792F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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