ClinVar for Gene (Select 56102) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 591

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064660	NM_018912.3(PCDHGA1):c.2422-80809G>A	PCDHG@, PCDHGA1 +15 more (E275K)	Single nucleotide variant (missense variant +1 more)	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 condition	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 3024918	NM_018919.3(PCDHGA6):c.2279C>G (p.Thr760Ser)	PCDHG@, PCDHGA1 +8 more (T760S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655867	NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=)	PCDHGA11, PCDHGA12 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655866	NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu)	PCDHGB7, PCDHGC3 +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=)	PCDHG@, PCDHGA1 +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 (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655862	NM_018913.3(PCDHGA10):c.2109G>C (p.Ala703=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655861	NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655860	NM_018926.3(PCDHGB6):c.2268T>C (p.Ile756=)	PCDHGA6, PCDHGA7 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655859	NM_018926.3(PCDHGB6):c.2252C>T (p.Ser751Phe)	PCDHGB5, PCDHGB6 +14 more (S751F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655858	NM_018926.3(PCDHGB6):c.1962C>T (p.Leu654=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655857	NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655856	NM_018921.3(PCDHGA9):c.315C>T (p.Asn105=)	PCDHG@, PCDHGA1 +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655855	NM_018921.3(PCDHGA9):c.48A>G (p.Leu16=)	PCDHG@, PCDHGA1 +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655854	NM_018925.3(PCDHGB5):c.2241C>T (p.Ser747=)	PCDHG@, PCDHGA1 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655853	NM_018925.3(PCDHGB5):c.1781C>T (p.Ser594Leu)	PCDHG@, PCDHGA1 +12 more (S594L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655852	NM_003736.4(PCDHGB4):c.1838G>C (p.Gly613Ala)	PCDHG@, PCDHGA1 +10 more (G613A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655851	NM_003736.4(PCDHGB4):c.1500A>G (p.Ser500=)	PCDHGA4, PCDHGA6 +10 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655850	NM_003736.4(PCDHGB4):c.818T>G (p.Val273Gly)	PCDHGB4, PCDHG@ +10 more (V273G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655849	NM_018920.4(PCDHGA7):c.2022C>T (p.Asp674=)	PCDHG@, PCDHGA1 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655848	NM_018919.3(PCDHGA6):c.2210G>C (p.Gly737Ala)	PCDHG@, PCDHGA1 +8 more (G737A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655847	NM_018924.5(PCDHGB3):c.1839G>A (p.Glu613=)	PCDHG@, PCDHGA1 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623804	NM_018919.3(PCDHGA6):c.1683G>C (p.Glu561Asp)	PCDHG@, PCDHGA1 +8 more (E561D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622929	NM_018925.3(PCDHGB5):c.1954G>A (p.Ala652Thr)	PCDHG@, PCDHGA1 +12 more (A652T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622420	NM_018920.4(PCDHGA7):c.2275C>T (p.Leu759Phe)	PCDHG@, PCDHGA1 +9 more (L759F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622300	NM_018924.5(PCDHGB3):c.250T>A (p.Leu84Ile)	PCDHGB3, PCDHG@ +7 more (L84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621467	NM_018926.3(PCDHGB6):c.119A>G (p.Glu40Gly)	PCDHG@, PCDHGA1 +14 more (E40G)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620977	NM_032088.2(PCDHGA8):c.360A>C (p.Glu120Asp)	PCDHG@, PCDHGA1 +11 more (E120D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620508	NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val)	PCDHG@, PCDHGA1 +21 more (E401V)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620097	NM_018925.3(PCDHGB5):c.1874C>A (p.Ala625Glu)	PCDHG@, PCDHGA1 +12 more (A625E)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2618179	NM_032088.2(PCDHGA8):c.1136A>G (p.Asn379Ser)	PCDHG@, PCDHGA1 +11 more (N379S)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617796	NM_018919.3(PCDHGA6):c.920T>C (p.Leu307Pro)	PCDHG@, PCDHGA1 +8 more (L307P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617566	NM_018925.3(PCDHGB5):c.29G>A (p.Arg10Gln)	PCDHGA2, PCDHGA4 +12 more (R10Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616533	NM_018921.3(PCDHGA9):c.748A>G (p.Lys250Glu)	PCDHGA6, PCDHGB5 +13 more (K250E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616186	NM_018919.3(PCDHGA6):c.518G>C (p.Ser173Thr)	PCDHG@, PCDHGA1 +8 more (S173T)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615899	NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His)	PCDHGA1, PCDHGA10 +21 more (Q243H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613998	NM_003735.3(PCDHGA12):c.1825C>T (p.Leu609Phe)	PCDHG@, PCDHGA1 +18 more (L609F)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613328	NM_018926.3(PCDHGB6):c.1070T>G (p.Leu357Trp)	PCDHG@, PCDHGA1 +14 more (L357W)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611288	NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys)	PCDHGA2, PCDHGA3 +21 more (E672K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2610828	NM_032088.2(PCDHGA8):c.1853C>T (p.Ser618Leu)	PCDHG@, PCDHGA1 +11 more (S618L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2610206	NM_032088.2(PCDHGA8):c.685C>T (p.His229Tyr)	PCDHG@, PCDHGA1 +11 more (H229Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609291	NM_018927.4(PCDHGB7):c.1091T>A (p.Val364Glu)	PCDHG@, PCDHGA1 +16 more (V364E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608749	NM_018914.3(PCDHGA11):c.2374C>T (p.Leu792Phe)	PCDHGA3, PCDHGB6 +17 more (L792F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608129	NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro)	PCDHGB3, PCDHGB4 +10 more (S280P)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605476	NM_018926.3(PCDHGB6):c.1057T>C (p.Ser353Pro)	PCDHGA6, PCDHGB5 +14 more (S353P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605220	NM_018914.3(PCDHGA11):c.1085C>T (p.Pro362Leu)	PCDHGA9, PCDHGB1 +17 more (P362L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604791	NM_032088.2(PCDHGA8):c.1862T>A (p.Leu621Gln)	PCDHGB3, PCDHGB4 +11 more (L621Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604790	NM_032088.2(PCDHGA8):c.1861C>G (p.Leu621Val)	PCDHG@, PCDHGA1 +11 more (L621V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604789	NM_032088.2(PCDHGA8):c.1852T>G (p.Ser618Ala)	PCDHG@, PCDHGA1 +11 more (S618A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2603148	NM_018920.4(PCDHGA7):c.131T>C (p.Phe44Ser)	PCDHG@, PCDHGA1 +9 more (F44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603044	NM_002588.4(PCDHGC3):c.921G>T (p.Lys307Asn)	PCDHG@, PCDHGA1 +19 more (K307N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602233	NM_018924.5(PCDHGB3):c.1648G>A (p.Val550Met)	PCDHG@, PCDHGA1 +7 more (V550M)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602232	NM_003735.3(PCDHGA12):c.191T>G (p.Val64Gly)	PCDHGA10, PCDHGA11 +18 more (V64G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601276	NM_018920.4(PCDHGA7):c.1640C>T (p.Ser547Leu)	PCDHG@, PCDHGA1 +9 more (S547L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601008	NM_002588.4(PCDHGC3):c.2431C>A (p.Gln811Lys)	PCDHGA11, PCDHGA12 +21 more (Q800K +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600934	NM_002588.4(PCDHGC3):c.1571C>A (p.Pro524His)	PCDHGB2, PCDHGB3 +19 more (P524H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600350	NM_018929.3(PCDHGC5):c.2426G>A (p.Arg809Gln)	PCDHG@, PCDHGA1 +21 more (R809Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600219	NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr)	PCDHGA9, PCDHGB6 +20 more (H296Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599876	NM_018925.3(PCDHGB5):c.1512C>A (p.Ser504Arg)	PCDHG@, PCDHGA1 +12 more (S504R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599875	NM_018925.3(PCDHGB5):c.1511G>A (p.Ser504Asn)	PCDHG@, PCDHGA1 +12 more (S504N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599796	NM_018927.4(PCDHGB7):c.1310C>T (p.Thr437Ile)	PCDHGA4, PCDHGA5 +16 more (T437I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599612	NM_018919.3(PCDHGA6):c.1259T>A (p.Ile420Asn)	PCDHGA3, PCDHGA4 +8 more (I420N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596456	NM_032088.2(PCDHGA8):c.1739G>A (p.Arg580His)	PCDHG@, PCDHGA1 +11 more (R580H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596410	NM_018919.3(PCDHGA6):c.476A>C (p.Asp159Ala)	PCDHGA2, PCDHG@ +8 more (D159A)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594453	NM_003735.3(PCDHGA12):c.503A>G (p.Gln168Arg)	PCDHG@, PCDHGA1 +18 more (Q168R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593656	NM_018924.5(PCDHGB3):c.299C>G (p.Ser100Trp)	PCDHG@, PCDHGA5 +7 more (S100W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592748	NM_018920.4(PCDHGA7):c.2282C>A (p.Ala761Glu)	PCDHGA3, PCDHGA4 +9 more (A761E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592612	NM_018914.3(PCDHGA11):c.592G>C (p.Glu198Gln)	PCDHGB4, PCDHGB5 +17 more (E198Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589983	NM_018920.4(PCDHGA7):c.2281G>A (p.Ala761Thr)	PCDHG@, PCDHGA1 +9 more (A761T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589551	NM_018913.3(PCDHGA10):c.2411C>T (p.Pro804Leu)	PCDHG@, PCDHGA1 +15 more (P804L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588430	NM_018914.3(PCDHGA11):c.1018G>C (p.Asp340His)	PCDHG@, PCDHGA1 +17 more (D340H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569468	NM_018927.4(PCDHGB7):c.1627A>C (p.Ser543Arg)	PCDHG@, PCDHGA1 +16 more (S543R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569467	NM_018927.4(PCDHGB7):c.1611G>C (p.Gln537His)	PCDHG@, PCDHGA1 +16 more (Q537H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569466	NM_018927.4(PCDHGB7):c.1584C>G (p.Phe528Leu)	PCDHG@, PCDHGA1 +16 more (F528L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569465	NM_018927.4(PCDHGB7):c.1579A>G (p.Thr527Ala)	PCDHG@, PCDHGA1 +16 more (T527A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2562487	NM_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln)	PCDHGA10, PCDHGA11 +21 more (R537Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562136	NM_018921.3(PCDHGA9):c.2348A>G (p.Gln783Arg)	PCDHG@, PCDHGA1 +13 more (Q783R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559409	NM_018927.4(PCDHGB7):c.955A>G (p.Ile319Val)	PCDHGA3, PCDHG@ +16 more (I319V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2558469	NM_018925.3(PCDHGB5):c.2035G>A (p.Asp679Asn)	PCDHGB3, PCDHGB4 +12 more (D679N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557132	NM_002588.4(PCDHGC3):c.989A>G (p.Asn330Ser)	PCDHG@, PCDHGA1 +19 more (N330S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2557131	NM_018921.3(PCDHGA9):c.1231G>A (p.Asp411Asn)	PCDHG@, PCDHGA1 +13 more (D411N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555614	NM_018927.4(PCDHGB7):c.655G>A (p.Asp219Asn)	PCDHG@, PCDHGA1 +16 more (D219N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555349	NM_018914.3(PCDHGA11):c.1046C>A (p.Thr349Asn)	PCDHGA11, PCDHG@ +17 more (T349N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553231	NM_018925.3(PCDHGB5):c.1153G>A (p.Glu385Lys)	PCDHG@, PCDHGA1 +12 more (E385K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553040	NM_018914.3(PCDHGA11):c.27C>A (p.Asp9Glu)	PCDHGA2, PCDHGA6 +17 more (D9E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552110	NM_018927.4(PCDHGB7):c.1598A>G (p.Gln533Arg)	PCDHGA4, PCDHGA5 +16 more (Q533R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551052	NM_018926.3(PCDHGB6):c.1357G>C (p.Asp453His)	PCDHGA3, PCDHGA4 +14 more (D453H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2549683	NM_018919.3(PCDHGA6):c.1706C>T (p.Thr569Ile)	PCDHG@, PCDHGA1 +8 more (T569I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549395	NM_003735.3(PCDHGA12):c.1448A>G (p.Glu483Gly)	PCDHG@, PCDHGA1 +18 more (E483G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547562	NM_018924.5(PCDHGB3):c.1786G>A (p.Ala596Thr)	PCDHG@, PCDHGA1 +7 more (A596T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546087	NM_018920.4(PCDHGA7):c.1306A>G (p.Thr436Ala)	PCDHG@, PCDHGA1 +9 more (T436A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545218	NM_018924.5(PCDHGB3):c.1199A>C (p.Asn400Thr)	PCDHG@, PCDHGA1 +7 more (N400T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544773	NM_018924.5(PCDHGB3):c.120G>T (p.Glu40Asp)	PCDHG@, PCDHGA1 +7 more (E40D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544771	NM_018914.3(PCDHGA11):c.2045T>C (p.Leu682Pro)	PCDHG@, PCDHGA1 +17 more (L682P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

<< First< Prev

Page of 6