Related gene-specific medical variations for Gene (Select 56113) - 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 3305033	NM_003736.4(PCDHGB4):c.1867G>C (p.Glu623Gln)	PCDHG@, PCDHGA1 +10 more (E623Q)	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 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
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 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 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 3305027	NM_003736.4(PCDHGB4):c.2380G>C (p.Glu794Gln)	PCDHG@, PCDHGA1 +10 more (E794Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305026	NM_018924.5(PCDHGB3):c.1577G>A (p.Arg526His)	PCDHG@, PCDHGA1 +7 more (R526H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305025	NM_018924.5(PCDHGB3):c.338C>T (p.Pro113Leu)	PCDHG@, PCDHGA1 +7 more (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305024	NM_018924.5(PCDHGB3):c.1793C>T (p.Ser598Leu)	PCDHGA4, PCDHGA5 +7 more (S598L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305023	NM_018924.5(PCDHGB3):c.1753G>A (p.Gly585Ser)	PCDHG@, PCDHGA1 +7 more (G585S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305022	NM_018924.5(PCDHGB3):c.751G>A (p.Val251Ile)	PCDHG@, PCDHGA1 +7 more (V251I)	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 3305020	NM_018923.3(PCDHGB2):c.2372C>T (p.Thr791Ile)	PCDHG@, PCDHGA1 +5 more (T791I)	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 3305017	NM_018923.3(PCDHGB2):c.2213G>C (p.Gly738Ala)	PCDHG@, PCDHGA1 +5 more (G738A)	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 3305015	NM_018922.3(PCDHGB1):c.673A>G (p.Ile225Val)	PCDHG@, PCDHGA1 +3 more (I225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305014	NM_018922.3(PCDHGB1):c.1664C>A (p.Ala555Glu)	PCDHG@, PCDHGA1 +3 more (A555E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305013	NM_018922.3(PCDHGB1):c.2285A>G (p.Asn762Ser)	PCDHG@, PCDHGA1 +3 more (N762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305012	NM_018922.3(PCDHGB1):c.1694C>T (p.Pro565Leu)	PCDHG@, PCDHGA1 +3 more (P565L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305011	NM_018922.3(PCDHGB1):c.308T>C (p.Phe103Ser)	PCDHG@, PCDHGA1 +3 more (F103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305010	NM_018922.3(PCDHGB1):c.1185G>C (p.Lys395Asn)	PCDHG@, PCDHGA1 +3 more (K395N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305009	NM_018922.3(PCDHGB1):c.1858G>A (p.Gly620Ser)	PCDHG@, PCDHGA1 +3 more (G620S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305008	NM_018922.3(PCDHGB1):c.1552C>T (p.His518Tyr)	PCDHG@, PCDHGA1 +3 more (H518Y)	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 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 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 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 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 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 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 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 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 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 3304979	NM_018919.3(PCDHGA6):c.611G>T (p.Gly204Val)	PCDHG@, PCDHGA1 +8 more (G204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304978	NM_018919.3(PCDHGA6):c.68T>C (p.Leu23Pro)	PCDHG@, PCDHGA1 +8 more (L23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304977	NM_018919.3(PCDHGA6):c.1531A>T (p.Thr511Ser)	PCDHG@, PCDHGA1 +8 more (T511S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304976	NM_018919.3(PCDHGA6):c.1175T>C (p.Phe392Ser)	PCDHG@, PCDHGA1 +8 more (F392S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304975	NM_018919.3(PCDHGA6):c.44T>C (p.Leu15Pro)	PCDHG@, PCDHGA1 +8 more (L15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304974	NM_018919.3(PCDHGA6):c.1669G>A (p.Asp557Asn)	PCDHG@, PCDHGA1 +8 more (D557N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304973	NM_018919.3(PCDHGA6):c.859A>G (p.Lys287Glu)	PCDHG@, PCDHGA1 +8 more (K287E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304972	NM_018919.3(PCDHGA6):c.1117G>T (p.Asp373Tyr)	PCDHG@, PCDHGA1 +8 more (D373Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304971	NM_018919.3(PCDHGA6):c.847A>G (p.Lys283Glu)	PCDHG@, PCDHGA1 +8 more (K283E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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