Related gene-specific medical variations for Gene (Select 9708) - 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 3305057	NM_018927.4(PCDHGB7):c.226A>C (p.Ser76Arg)	PCDHG@, PCDHGA1 +16 more (S76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305056	NM_018927.4(PCDHGB7):c.385C>T (p.His129Tyr)	PCDHG@, PCDHGA1 +16 more (H129Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305055	NM_018927.4(PCDHGB7):c.1513G>A (p.Val505Met)	PCDHG@, PCDHGA1 +16 more (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305054	NM_018927.4(PCDHGB7):c.565G>A (p.Gly189Ser)	PCDHG@, PCDHGA1 +16 more (G189S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305053	NM_018927.4(PCDHGB7):c.2282T>C (p.Met761Thr)	PCDHG@, PCDHGA1 +16 more (M761T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3305052	NM_018927.4(PCDHGB7):c.1558T>G (p.Phe520Val)	PCDHG@, PCDHGA1 +16 more (F520V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305051	NM_018926.3(PCDHGB6):c.974G>A (p.Gly325Asp)	PCDHG@, PCDHGA1 +14 more (G325D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305049	NM_018926.3(PCDHGB6):c.1811T>A (p.Leu604Gln)	PCDHG@, PCDHGA1 +14 more (L604Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305048	NM_018926.3(PCDHGB6):c.1502T>C (p.Val501Ala)	PCDHG@, PCDHGA1 +14 more (V501A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305047	NM_018926.3(PCDHGB6):c.1861C>A (p.Leu621Met)	PCDHG@, PCDHGA1 +14 more (L621M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305046	NM_018926.3(PCDHGB6):c.668G>C (p.Ser223Thr)	PCDHG@, PCDHGA1 +14 more (S223T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305045	NM_018926.3(PCDHGB6):c.275G>A (p.Arg92His)	LOC129994855, PCDHG@ +15 more (R92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305044	NM_018926.3(PCDHGB6):c.1397C>A (p.Pro466Gln)	PCDHG@, PCDHGA1 +14 more (P466Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305043	NM_018926.3(PCDHGB6):c.1649T>C (p.Val550Ala)	PCDHG@, PCDHGA1 +14 more (V550A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305042	NM_018926.3(PCDHGB6):c.884A>G (p.Asp295Gly)	PCDHG@, PCDHGA1 +14 more (D295G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305041	NM_018926.3(PCDHGB6):c.1362G>C (p.Gln454His)	PCDHG@, PCDHGA1 +14 more (Q454H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305040	NM_018926.3(PCDHGB6):c.665G>T (p.Arg222Ile)	PCDHG@, PCDHGA1 +14 more (R222I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305039	NM_018925.3(PCDHGB5):c.828A>T (p.Glu276Asp)	PCDHG@, PCDHGA1 +12 more (E276D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305038	NM_018925.3(PCDHGB5):c.1320C>A (p.Asp440Glu)	PCDHG@, PCDHGA1 +12 more (D440E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305037	NM_018925.3(PCDHGB5):c.773G>A (p.Gly258Asp)	PCDHG@, PCDHGA1 +12 more (G258D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305036	NM_018925.3(PCDHGB5):c.475G>C (p.Asp159His)	PCDHG@, PCDHGA1 +12 more (D159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305035	NM_018925.3(PCDHGB5):c.436G>A (p.Ala146Thr)	PCDHG@, PCDHGA1 +12 more (A146T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3305034	NM_018925.3(PCDHGB5):c.1829C>T (p.Pro610Leu)	PCDHG@, PCDHGA1 +12 more (P610L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305007	NM_018921.3(PCDHGA9):c.236C>T (p.Pro79Leu)	PCDHG@, PCDHGA1 +13 more (P79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305006	NM_018921.3(PCDHGA9):c.170G>A (p.Arg57Gln)	PCDHG@, PCDHGA1 +13 more (R57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305005	NM_018921.3(PCDHGA9):c.1165A>C (p.Asn389His)	PCDHG@, PCDHGA1 +13 more (N389H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305004	NM_018921.3(PCDHGA9):c.2077C>G (p.Leu693Val)	PCDHG@, PCDHGA1 +13 more (L693V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305003	NM_018921.3(PCDHGA9):c.1127C>G (p.Ser376Cys)	PCDHG@, PCDHGA1 +13 more (S376C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305002	NM_018921.3(PCDHGA9):c.1673A>G (p.Asn558Ser)	PCDHG@, PCDHGA1 +13 more (N558S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305001	NM_018921.3(PCDHGA9):c.1379A>G (p.Tyr460Cys)	PCDHG@, PCDHGA1 +13 more (Y460C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304999	NM_032088.2(PCDHGA8):c.326T>A (p.Leu109Gln)	PCDHG@, PCDHGA1 +11 more (L109Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304998	NM_032088.2(PCDHGA8):c.2209G>A (p.Ala737Thr)	PCDHG@, PCDHGA1 +11 more (A737T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304997	NM_032088.2(PCDHGA8):c.1702C>T (p.Pro568Ser)	PCDHG@, PCDHGA1 +11 more (P568S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304996	NM_032088.2(PCDHGA8):c.2092G>A (p.Ala698Thr)	PCDHG@, PCDHGA1 +11 more (A698T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304995	NM_032088.2(PCDHGA8):c.50G>A (p.Cys17Tyr)	PCDHG@, PCDHGA1 +11 more (C17Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304994	NM_032088.2(PCDHGA8):c.1637T>A (p.Met546Lys)	PCDHG@, PCDHGA1 +11 more (M546K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304993	NM_032088.2(PCDHGA8):c.541G>A (p.Asp181Asn)	PCDHG@, PCDHGA1 +11 more (D181N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304992	NM_032088.2(PCDHGA8):c.17G>A (p.Ser6Asn)	PCDHG@, PCDHGA1 +11 more (S6N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304991	NM_032088.2(PCDHGA8):c.1720G>A (p.Gly574Ser)	PCDHG@, PCDHGA1 +11 more (G574S)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3304990	NM_032088.2(PCDHGA8):c.328G>A (p.Val110Ile)	PCDHG@, PCDHGA1 +11 more (V110I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304989	NM_032088.2(PCDHGA8):c.202T>A (p.Ser68Thr)	PCDHG@, PCDHGA1 +11 more (S68T)	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 3304921	NM_018913.3(PCDHGA10):c.97C>T (p.Arg33Trp)	PCDHG@, PCDHGA1 +15 more (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304920	NM_018913.3(PCDHGA10):c.260G>T (p.Ser87Ile)	PCDHG@, PCDHGA1 +15 more (S87I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304919	NM_018913.3(PCDHGA10):c.731C>T (p.Pro244Leu)	PCDHG@, PCDHGA1 +15 more (P244L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304918	NM_018913.3(PCDHGA10):c.241C>G (p.Leu81Val)	PCDHG@, PCDHGA1 +15 more (L81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3257595	NM_032088.2(PCDHGA8):c.731A>G (p.His244Arg)	PCDHG@, PCDHGA1 +11 more (H244R)	Single nucleotide variant (missense 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

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