ClinVar for Gene (Select 5098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 2541592	NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val)	PCDHGA11, PCDHG@ +20 more (L138V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533658	NM_018928.3(PCDHGC4):c.890C>T (p.Pro297Leu)	PCDHG@, PCDHGA1 +20 more (P297L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533657	NM_002588.4(PCDHGC3):c.970G>A (p.Ala324Thr)	PCDHGA12, PCDHGA2 +19 more (A324T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532894	NM_018928.3(PCDHGC4):c.1706G>A (p.Arg569Gln)	PCDHGB7, PCDHGC3 +20 more (R569Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530521	NM_018928.3(PCDHGC4):c.1091A>C (p.Glu364Ala)	PCDHGA4, PCDHGA5 +20 more (E364A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528978	NM_018928.3(PCDHGC4):c.191T>C (p.Leu64Pro)	PCDHG@, PCDHGA1 +20 more (L64P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517431	NM_002588.4(PCDHGC3):c.2236G>T (p.Ala746Ser)	PCDHG@, PCDHGA1 +19 more (A746S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513271	NM_002588.4(PCDHGC3):c.178A>T (p.Ser60Cys)	PCDHG@, PCDHGA1 +19 more (S60C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512900	NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His)	PCDHG@, PCDHGA1 +21 more (R629H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493876	NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val)	PCDHGC5, PCDHG@ +21 more (L815V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493147	NM_002588.4(PCDHGC3):c.1552A>G (p.Ile518Val)	PCDHGA10, PCDHG@ +19 more (I518V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2492810	NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr)	PCDHGB1, PCDHGB2 +21 more (D724Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491630	NM_018928.3(PCDHGC4):c.682C>T (p.Leu228Phe)	PCDHGB3, PCDHGB4 +20 more (L228F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491480	NM_018929.3(PCDHGC5):c.2030C>G (p.Ser677Cys)	PCDHG@, PCDHGA1 +21 more (S677C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491387	NM_018928.3(PCDHGC4):c.2125G>A (p.Val709Met)	PCDHG@, PCDHGA1 +20 more (V709M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489548	NM_018929.3(PCDHGC5):c.31G>A (p.Gly11Arg)	PCDHG@, PCDHGA1 +21 more (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483793	NM_018928.3(PCDHGC4):c.163G>A (p.Asp55Asn)	PCDHG@, PCDHGA1 +20 more (D55N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479220	NM_018928.3(PCDHGC4):c.334G>A (p.Gly112Ser)	PCDHG@, PCDHGA1 +20 more (G112S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477706	NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg)	PCDHGA5, PCDHGA6 +21 more (P469R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476240	NM_018929.3(PCDHGC5):c.2300C>A (p.Thr767Lys)	PCDHG@, PCDHGA1 +21 more (T767K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471246	NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg)	PCDHG@, PCDHGA2 +21 more (H545R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463561	NM_002588.4(PCDHGC3):c.664C>T (p.Pro222Ser)	PCDHGB5, PCDHGB6 +19 more (P222S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458212	NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln)	PCDHGB2, PCDHGB3 +20 more (H23Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408733	NM_018928.3(PCDHGC4):c.1254A>T (p.Lys418Asn)	PCDHGB4, PCDHGA10 +20 more (K418N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407462	NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His)	PCDHGB3, PCDHGA7 +21 more (P297H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406285	NM_018929.3(PCDHGC5):c.95G>A (p.Arg32His)	PCDHGA2, PCDHGC4 +21 more (R32H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405863	NM_018928.3(PCDHGC4):c.2367G>T (p.Lys789Asn)	PCDHGA8, PCDHGA4 +20 more (K789N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403003	NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys)	PCDHGA3, PCDHGA9 +20 more (Q40K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399793	NM_002588.4(PCDHGC3):c.494G>A (p.Gly165Glu)	PCDHGA12, PCDHGB5 +19 more (G165E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398904	NM_002588.4(PCDHGC3):c.458G>A (p.Arg153His)	PCDHGA8, PCDHGB6 +19 more (R153H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398072	NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys)	PCDHGA12, PCDHG@ +21 more (R141C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395091	NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp)	PCDHGB2, PCDHGA4 +21 more (R377W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394394	NM_018928.3(PCDHGC4):c.2389G>A (p.Gly797Arg)	PCDHGA2, PCDHGB7 +20 more (G797R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387968	NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr)	PCDHGB3, PCDHGB1 +20 more (S756T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387836	NM_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln)	PCDHGB2, PCDHG@ +21 more (R377Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386614	NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His)	PCDHGA3, PCDHGA12 +21 more (R73H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2385455	NM_002588.4(PCDHGC3):c.778G>A (p.Gly260Ser)	PCDHGC3, PCDHGA2 +19 more (G260S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379520	NM_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala)	PCDHGA3, PCDHGA8 +20 more (G25A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375633	NM_018929.3(PCDHGC5):c.2084T>C (p.Ile695Thr)	PCDHGA3, PCDHGB7 +21 more (I695T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375391	NM_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly)	PCDHGB2, PCDHGB1 +21 more (R323G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374454	NM_018928.3(PCDHGC4):c.1405C>T (p.Arg469Cys)	PCDHGA4, PCDHGA6 +20 more (R469C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372154	NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His)	PCDHGA12, PCDHGB4 +21 more (R323H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361105	NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His)	PCDHGA2, PCDHGB3 +21 more (R314H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352062	NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His)	PCDHG@, PCDHGA3 +21 more (R883H +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350086	NM_002588.4(PCDHGC3):c.1606A>G (p.Thr536Ala)	PCDHGA11, PCDHGB5 +19 more (T536A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349490	NM_002588.4(PCDHGC3):c.435C>G (p.Ser145Arg)	PCDHGC3, PCDHGA10 +19 more (S145R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339370	NM_002588.4(PCDHGC3):c.1450C>T (p.Pro484Ser)	PCDHGB1, PCDHGB4 +19 more (P484S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338111	NM_018928.3(PCDHGC4):c.366G>C (p.Glu122Asp)	PCDHGA3, PCDHGB2 +20 more (E122D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326143	NM_018928.3(PCDHGC4):c.2375G>T (p.Ser792Ile)	PCDHGA10, PCDHGA4 +20 more (S792I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324026	NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys)	PCDHGA4, PCDHGA12 +21 more (R323C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323100	NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met)	PCDHGB7, PCDHGA2 +21 more (V385M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321506	NM_002588.4(PCDHGC3):c.1482C>G (p.Phe494Leu)	PCDHGA2, PCDHGA8 +19 more (F494L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318255	NM_002588.4(PCDHGC3):c.296G>T (p.Gly99Val)	PCDHGC3, PCDHGA7 +19 more (G99V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314775	NM_002588.4(PCDHGC3):c.827A>G (p.Asn276Ser)	PCDHGA8, PCDHGB6 +19 more (N276S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314683	NM_018929.3(PCDHGC5):c.684C>G (p.Ile228Met)	PCDHGC5, PCDHGA6 +21 more (I228M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311478	NM_018928.3(PCDHGC4):c.268A>C (p.Ile90Leu)	PCDHGA12, PCDHGA3 +20 more (I90L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311419	NM_002588.4(PCDHGC3):c.1261C>T (p.Pro421Ser)	PCDHGB2, PCDHGB1 +19 more (P421S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308702	NM_018928.3(PCDHGC4):c.1129C>T (p.Pro377Ser)	PCDHGB2, PCDHGC3 +20 more (P377S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298652	NM_018928.3(PCDHGC4):c.56T>A (p.Phe19Tyr)	PCDHGC3, PCDHGA10 +20 more (F19Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294423	NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp)	PCDHGB6, PCDHGA9 +21 more (G784D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294373	NM_002588.4(PCDHGC3):c.1901T>C (p.Val634Ala)	PCDHGB3, PCDHGA5 +19 more (V634A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290743	NM_018928.3(PCDHGC4):c.2092G>A (p.Val698Met)	PCDHGA11, PCDHG@ +20 more (V698M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290068	NM_018928.3(PCDHGC4):c.619G>T (p.Asp207Tyr)	PCDHGB2, PCDHGA8 +20 more (D207Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288129	NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser)	PCDHGB5, PCDHGA12 +21 more (P511S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287571	NM_002588.4(PCDHGC3):c.1661A>G (p.Asn554Ser)	PCDHGA9, PCDHGA12 +19 more (N554S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284153	NM_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu)	PCDHGB5, PCDHGB3 +21 more (M529L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278680	NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr)	PCDHGA12, PCDHGB7 +21 more (A615T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259539	NM_018928.3(PCDHGC4):c.389C>T (p.Ala130Val)	PCDHGC4, PCDHGA12 +20 more (A130V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258705	NM_018928.3(PCDHGC4):c.1289C>T (p.Ala430Val)	PCDHGA2, PCDHGB5 +20 more (A430V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258502	NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr)	PCDHGB5, PCDHGA11 +21 more (P798T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255452	NM_002588.4(PCDHGC3):c.1679G>A (p.Arg560His)	PCDHGB5, PCDHGA5 +19 more (R560H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254446	NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg)	PCDHGA9, PCDHGA1 +20 more (G217R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249081	NM_002588.4(PCDHGC3):c.598C>G (p.Arg200Gly)	PCDHG@, PCDHGA5 +19 more (R200G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239806	NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys)	PCDHGB4, PCDHGA12 +21 more (E572K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235713	NM_002588.4(PCDHGC3):c.988A>G (p.Asn330Asp)	PCDHGA1, PCDHGA11 +19 more (N330D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226952	NM_002588.4(PCDHGC3):c.1510G>A (p.Gly504Arg)	PCDHGA11, PCDHGA1 +19 more (G504R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223800	NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser)	PCDHGA6, PCDHGB3 +21 more (N236S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223218	NM_018928.3(PCDHGC4):c.1189C>A (p.Leu397Ile)	PCDHGA4, PCDHG@ +20 more (L397I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221091	NM_002588.4(PCDHGC3):c.1775G>T (p.Arg592Leu)	PCDHGB6, PCDHGA9 +19 more (R592L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218099	NM_002588.4(PCDHGC3):c.1894C>T (p.Arg632Cys)	PCDHGA11, PCDHGB3 +19 more (R632C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206992	NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His)	PCDHGB7, PCDHGC5 +21 more (R118H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204216	NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu)	PCDHGA4, PCDHGB7 +21 more (D768E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203801	NM_002588.4(PCDHGC3):c.1046C>A (p.Ala349Asp)	PCDHGA5, PCDHGB7 +19 more (A349D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1802232	NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs)	PCDHGA5, PCDHGA6 +20 more (L228fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
Select item 1693119	NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter)	PCDHG@, PCDHGA1 +20 more (K714*)	Duplication (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic

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