Related gene-specific medical variations for Gene (Select 56146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347459	NM_018905.3(PCDHA2):c.2252C>T (p.Ser751Leu)	PCDHA1, PCDHA2 +1 more (S751L)	Single nucleotide variant (missense variant +1 more)	PCDHA2-related disorder	GLikely benign
Select item 3345550	NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro)	PCDHA1, PCDHA10 +11 more (Q204P)	Single nucleotide variant (missense variant +1 more)	PCDHA12-related condition	GLikely benign
Select item 3304774	NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe)	PCDHA1, PCDHA10 +14 more (L32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304772	NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val)	PCDHA1, PCDHA10 +14 more (I642V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304771	NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu)	PCDHA1, PCDHA10 +14 more (D302E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304770	NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser)	PCDHA1, PCDHA10 +14 more (N762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304769	NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg)	PCDHA1, PCDHA10 +14 more (G818R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304768	NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp)	PCDHA1, PCDHA10 +14 more (N810D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304767	NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr)	PCDHA1, PCDHA10 +14 more (A675T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304766	NM_018898.5(PCDHAC1):c.1028T>C (p.Leu343Pro)	PCDHA1, PCDHA10 +13 more (L343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304765	NM_018898.5(PCDHAC1):c.767A>C (p.Gln256Pro)	PCDHA12, PCDHA13 +13 more (Q256P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304764	NM_018898.5(PCDHAC1):c.1898G>T (p.Arg633Met)	PCDHA1, PCDHA10 +13 more (R633M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304763	NM_018898.5(PCDHAC1):c.1648G>T (p.Asp550Tyr)	PCDHA1, PCDHA10 +13 more (D550Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304762	NM_018898.5(PCDHAC1):c.1864C>T (p.Arg622Cys)	PCDHA1, PCDHA10 +13 more (R622C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304761	NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp)	PCDHA1, PCDHA10 +13 more (G127D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304760	NM_018898.5(PCDHAC1):c.880C>A (p.Gln294Lys)	PCDHA1, PCDHA10 +13 more (Q294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304759	NM_018898.5(PCDHAC1):c.2054T>C (p.Val685Ala)	PCDHA1, PCDHA10 +13 more (V685A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304758	NM_018898.5(PCDHAC1):c.1026C>A (p.Phe342Leu)	PCDHA2, PCDHA3 +13 more (F342L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304757	NM_018898.5(PCDHAC1):c.166C>G (p.Arg56Gly)	PCDHA9, PCDHAC1 +13 more (R56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304756	NM_031857.2(PCDHA9):c.1550T>A (p.Val517Glu)	PCDHA1, PCDHA2 +8 more (V517E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304755	NM_031857.2(PCDHA9):c.233A>G (p.Asn78Ser)	PCDHA1, PCDHA2 +8 more (N78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304754	NM_031857.2(PCDHA9):c.1427C>T (p.Thr476Met)	PCDHA1, PCDHA2 +8 more (T476M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304753	NM_031857.2(PCDHA9):c.2344T>C (p.Ser782Pro)	PCDHA1, PCDHA2 +8 more (S782P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304751	NM_031857.2(PCDHA9):c.2229C>A (p.Ser743Arg)	PCDHA1, PCDHA2 +8 more (S743R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304750	NM_031857.2(PCDHA9):c.356T>C (p.Val119Ala)	PCDHA1, PCDHA2 +8 more (V119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304749	NM_031857.2(PCDHA9):c.411A>C (p.Gln137His)	PCDHA1, PCDHA2 +8 more (Q137H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304748	NM_031857.2(PCDHA9):c.1645G>T (p.Val549Leu)	PCDHA1, PCDHA2 +8 more (V549L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304747	NM_031857.2(PCDHA9):c.239A>G (p.Gln80Arg)	PCDHA1, PCDHA2 +8 more (Q80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304746	NM_031857.2(PCDHA9):c.2233G>T (p.Val745Leu)	PCDHA1, PCDHA2 +8 more (V745L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304745	NM_031857.2(PCDHA9):c.1919C>T (p.Thr640Met)	PCDHA1, PCDHA2 +8 more (T640M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304744	NM_018911.3(PCDHA8):c.1733G>A (p.Ser578Asn)	PCDHA1, PCDHA2 +7 more (S578N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304743	NM_018911.3(PCDHA8):c.1360G>T (p.Ala454Ser)	PCDHA1, PCDHA2 +7 more (A454S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304742	NM_018911.3(PCDHA8):c.301G>A (p.Glu101Lys)	PCDHA1, PCDHA2 +7 more (E101K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304741	NM_018911.3(PCDHA8):c.1730C>G (p.Ala577Gly)	PCDHA1, PCDHA2 +7 more (A577G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304740	NM_018911.3(PCDHA8):c.727G>C (p.Glu243Gln)	PCDHA1, PCDHA2 +7 more (E243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304739	NM_018911.3(PCDHA8):c.1487A>G (p.Glu496Gly)	PCDHA1, PCDHA2 +7 more (E496G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304738	NM_018911.3(PCDHA8):c.1498G>A (p.Gly500Ser)	PCDHA1, PCDHA2 +7 more (G500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304737	NM_018911.3(PCDHA8):c.1745C>G (p.Pro582Arg)	PCDHA1, PCDHA2 +7 more (P582R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304736	NM_018911.3(PCDHA8):c.2180C>T (p.Pro727Leu)	PCDHA1, PCDHA2 +7 more (P727L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304735	NM_018911.3(PCDHA8):c.835T>G (p.Tyr279Asp)	PCDHA1, PCDHA2 +7 more (Y279D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304734	NM_018911.3(PCDHA8):c.1342G>A (p.Val448Met)	PCDHA7, PCDHA@ +7 more (V448M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304733	NM_018911.3(PCDHA8):c.1667T>C (p.Leu556Pro)	PCDHA3, PCDHA4 +7 more (L556P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304731	NM_018910.3(PCDHA7):c.2293C>A (p.Pro765Thr)	PCDHA1, PCDHA2 +6 more (P765T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304730	NM_018910.3(PCDHA7):c.307A>G (p.Ser103Gly)	PCDHA1, PCDHA2 +6 more (S103G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304729	NM_018910.3(PCDHA7):c.1075A>G (p.Ile359Val)	PCDHA2, PCDHA3 +6 more (I359V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304728	NM_018910.3(PCDHA7):c.1441G>A (p.Asp481Asn)	PCDHA1, PCDHA2 +6 more (D481N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304727	NM_018910.3(PCDHA7):c.1468G>C (p.Val490Leu)	PCDHA1, PCDHA2 +6 more (V490L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304726	NM_018910.3(PCDHA7):c.2344T>A (p.Ser782Thr)	PCDHA1, PCDHA2 +6 more (S782T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304725	NM_018910.3(PCDHA7):c.427G>T (p.Ala143Ser)	PCDHA1, PCDHA2 +6 more (A143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304724	NM_018910.3(PCDHA7):c.1615G>A (p.Asp539Asn)	PCDHA1, PCDHA2 +6 more (D539N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304723	NM_018909.4(PCDHA6):c.1672G>C (p.Glu558Gln)	PCDHA1, PCDHA2 +5 more (E558Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304721	NM_018909.4(PCDHA6):c.519T>G (p.Ser173Arg)	PCDHA1, PCDHA2 +5 more (S173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304720	NM_018909.4(PCDHA6):c.1072C>T (p.Pro358Ser)	PCDHA1, PCDHA2 +5 more (P358S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304719	NM_018909.4(PCDHA6):c.1684G>A (p.Ala562Thr)	PCDHA1, PCDHA2 +5 more (A562T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304718	NM_018909.4(PCDHA6):c.908T>A (p.Val303Glu)	PCDHA1, PCDHA2 +5 more (V303E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304717	NM_018909.4(PCDHA6):c.196A>G (p.Met66Val)	PCDHA1, PCDHA2 +5 more (M66V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304716	NM_018909.4(PCDHA6):c.1801T>G (p.Ser601Ala)	PCDHA1, PCDHA2 +5 more (S601A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304715	NM_018908.3(PCDHA5):c.137G>T (p.Arg46Leu)	PCDHA1, PCDHA2 +4 more (R46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304714	NM_018908.3(PCDHA5):c.750G>T (p.Leu250Phe)	PCDHA1, PCDHA2 +4 more (L250F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304713	NM_018908.3(PCDHA5):c.2021C>G (p.Ala674Gly)	PCDHA1, PCDHA2 +4 more (A674G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304711	NM_018908.3(PCDHA5):c.1144G>T (p.Gly382Trp)	PCDHA1, PCDHA2 +4 more (G382W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304710	NM_018908.3(PCDHA5):c.952A>C (p.Asn318His)	PCDHA1, PCDHA2 +4 more (N318H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304709	NM_018907.4(PCDHA4):c.650G>T (p.Gly217Val)	PCDHA1, PCDHA2 +3 more (G217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304708	NM_018907.4(PCDHA4):c.940A>C (p.Lys314Gln)	PCDHA1, PCDHA2 +3 more (K314Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304707	NM_018907.4(PCDHA4):c.1097G>A (p.Gly366Asp)	PCDHA1, PCDHA2 +3 more (G366D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304706	NM_018907.4(PCDHA4):c.1882A>C (p.Thr628Pro)	PCDHA1, PCDHA2 +3 more (T628P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304705	NM_018907.4(PCDHA4):c.1418A>G (p.His473Arg)	PCDHA1, PCDHA2 +3 more (H473R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304704	NM_018907.4(PCDHA4):c.946T>C (p.Tyr316His)	PCDHA1, PCDHA2 +3 more (Y316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304703	NM_018907.4(PCDHA4):c.1969C>T (p.Pro657Ser)	PCDHA1, PCDHA2 +3 more (P657S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304702	NM_018907.4(PCDHA4):c.1783C>A (p.Arg595Ser)	PCDHA1, PCDHA2 +3 more (R595S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304700	NM_018907.4(PCDHA4):c.635T>C (p.Leu212Pro)	PCDHA1, PCDHA2 +3 more (L212P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304699	NM_018907.4(PCDHA4):c.1678G>A (p.Asp560Asn)	PCDHA1, PCDHA2 +3 more (D560N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304698	NM_018906.3(PCDHA3):c.1595A>T (p.Gln532Leu)	PCDHA1, PCDHA2 +2 more (Q532L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304697	NM_018906.3(PCDHA3):c.2285A>C (p.Glu762Ala)	PCDHA1, PCDHA2 +2 more (E762A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304696	NM_018906.3(PCDHA3):c.119A>G (p.Lys40Arg)	PCDHA1, PCDHA2 +2 more (K40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304695	NM_018906.3(PCDHA3):c.1316C>T (p.Ala439Val)	PCDHA1, PCDHA2 +2 more (A439V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304694	NM_018906.3(PCDHA3):c.1327G>A (p.Val443Met)	PCDHA1, PCDHA2 +2 more (V443M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304693	NM_018906.3(PCDHA3):c.2075C>T (p.Ala692Val)	PCDHA1, PCDHA2 +2 more (A692V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304692	NM_018906.3(PCDHA3):c.391C>T (p.Pro131Ser)	PCDHA1, PCDHA2 +2 more (P131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304691	NM_018905.3(PCDHA2):c.307A>G (p.Ser103Gly)	PCDHA1, PCDHA2 +1 more (S103G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304689	NM_018905.3(PCDHA2):c.1292G>T (p.Gly431Val)	PCDHA1, PCDHA2 +1 more (G431V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304688	NM_018905.3(PCDHA2):c.761A>G (p.Asn254Ser)	PCDHA1, PCDHA2 +1 more (N254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304687	NM_018905.3(PCDHA2):c.329T>C (p.Val110Ala)	PCDHA1, PCDHA2 +1 more (V110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304686	NM_018905.3(PCDHA2):c.1361C>T (p.Ala454Val)	PCDHA1, PCDHA2 +1 more (A454V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304685	NM_018905.3(PCDHA2):c.2059G>T (p.Ala687Ser)	PCDHA1, PCDHA2 +1 more (A687S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304684	NM_018905.3(PCDHA2):c.784G>T (p.Val262Phe)	PCDHA1, PCDHA2 +1 more (V262F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304683	NM_018905.3(PCDHA2):c.2056G>A (p.Ala686Thr)	PCDHA1, PCDHA2 +1 more (A686T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304682	NM_018904.3(PCDHA13):c.1957G>T (p.Asp653Tyr)	PCDHA1, PCDHA10 +12 more (D653Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304681	NM_018904.3(PCDHA13):c.1181C>G (p.Pro394Arg)	PCDHA1, PCDHA10 +12 more (P394R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304680	NM_018904.3(PCDHA13):c.469G>C (p.Ala157Pro)	PCDHA1, PCDHA10 +12 more (A157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304679	NM_018904.3(PCDHA13):c.89A>G (p.Gln30Arg)	PCDHA1, PCDHA10 +12 more (Q30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304678	NM_018904.3(PCDHA13):c.1328T>G (p.Val443Gly)	PCDHA1, PCDHA10 +12 more (V443G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304677	NM_018904.3(PCDHA13):c.52C>T (p.Leu18Phe)	PCDHA1, PCDHA10 +12 more (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304676	NM_018904.3(PCDHA13):c.1073C>A (p.Pro358His)	PCDHA1, PCDHA10 +12 more (P358H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304675	NM_018904.3(PCDHA13):c.1273G>T (p.Val425Leu)	PCDHA1, PCDHA10 +12 more (V425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304674	NM_018903.4(PCDHA12):c.812A>C (p.Glu271Ala)	PCDHA1, PCDHA10 +11 more (E271A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304673	NM_018903.4(PCDHA12):c.1763G>A (p.Gly588Asp)	PCDHA1, PCDHA10 +11 more (G588D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304672	NM_018903.4(PCDHA12):c.535G>A (p.Glu179Lys)	PCDHA1, PCDHA10 +11 more (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304671	NM_018903.4(PCDHA12):c.968T>C (p.Ile323Thr)	PCDHA1, PCDHA10 +11 more (I323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304670	NM_018903.4(PCDHA12):c.569T>A (p.Ile190Lys)	PCDHA1, PCDHA10 +11 more (I190K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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