PCDHGC4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2298652	NM_018928.3(PCDHGC4):c.56T>A (p.Phe19Tyr)	PCDHG@, PCDHGA1 +20 more (F19Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458212	NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln)	PCDHG@, PCDHGA1 +20 more (H23Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379520	NM_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala)	PCDHG@, PCDHGA1 +20 more (G25A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403003	NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys)	PCDHG@, PCDHGA1 +20 more (Q40K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687019	NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter)	PCDHG@, PCDHGA1 +20 more (Q40*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
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 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 2311478	NM_018928.3(PCDHGC4):c.268A>C (p.Ile90Leu)	PCDHG@, PCDHGA1 +20 more (I90L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687021	NM_018928.3(PCDHGC4):c.324del (p.Phe108fs)	PCDHG@, PCDHGA1 +20 more (F108fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
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 2338111	NM_018928.3(PCDHGC4):c.366G>C (p.Glu122Asp)	PCDHG@, PCDHGA1 +20 more (E122D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259539	NM_018928.3(PCDHGC4):c.389C>T (p.Ala130Val)	PCDHG@, PCDHGA1 +20 more (A130V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541592	NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val)	PCDHG@, PCDHGA1 +20 more (L138V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 92004	NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=)	PCDHG@, PCDHGA1 +20 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 2290068	NM_018928.3(PCDHGC4):c.619G>T (p.Asp207Tyr)	PCDHG@, PCDHGA1 +20 more (D207Y)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254446	NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg)	PCDHG@, PCDHGA1 +20 more (G217R)	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 2491630	NM_018928.3(PCDHGC4):c.682C>T (p.Leu228Phe)	PCDHG@, PCDHGA1 +20 more (L228F)	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 2600219	NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr)	PCDHG@, PCDHGA1 +20 more (H296Y)	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 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 2530521	NM_018928.3(PCDHGC4):c.1091A>C (p.Glu364Ala)	PCDHG@, PCDHGA1 +20 more (E364A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308702	NM_018928.3(PCDHGC4):c.1129C>T (p.Pro377Ser)	PCDHG@, PCDHGA1 +20 more (P377S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223218	NM_018928.3(PCDHGC4):c.1189C>A (p.Leu397Ile)	PCDHG@, PCDHGA1 +20 more (L397I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687022	NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter)	PCDHG@, PCDHGA1 +20 more (R415*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 2408733	NM_018928.3(PCDHGC4):c.1254A>T (p.Lys418Asn)	PCDHG@, PCDHGA1 +20 more (K418N)	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 2258705	NM_018928.3(PCDHGC4):c.1289C>T (p.Ala430Val)	PCDHG@, PCDHGA1 +20 more (A430V)	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 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 2374454	NM_018928.3(PCDHGC4):c.1405C>T (p.Arg469Cys)	PCDHG@, PCDHGA1 +20 more (R469C)	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 1687018	NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu)	PCDHG@, PCDHGA1 +20 more (D483E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 1687020	NM_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val)	PCDHG@, PCDHGA1 +20 more (A488V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2532894	NM_018928.3(PCDHGC4):c.1706G>A (p.Arg569Gln)	PCDHG@, PCDHGA1 +20 more (R569Q)	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 3040571	NM_018928.3(PCDHGC4):c.1868G>A (p.Arg623Gln)	PCDHG@, PCDHGA1 +20 more (R623Q)	Single nucleotide variant (missense variant +1 more)	PCDHGC4-related disorder	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 2655866	NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu)	PCDHG@, PCDHGA1 +20 more (V698L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2290743	NM_018928.3(PCDHGC4):c.2092G>A (p.Val698Met)	PCDHG@, PCDHGA1 +20 more (V698M)	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 1693119	NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter)	PCDHGA2, PCDHGA3 +20 more (K714*)	Duplication (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
Select item 2387968	NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr)	PCDHG@, PCDHGA1 +20 more (S756T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405863	NM_018928.3(PCDHGC4):c.2367G>T (p.Lys789Asn)	PCDHG@, PCDHGA1 +20 more (K789N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326143	NM_018928.3(PCDHGC4):c.2375G>T (p.Ser792Ile)	PCDHG@, PCDHGA1 +20 more (S792I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394394	NM_018928.3(PCDHGC4):c.2389G>A (p.Gly797Arg)	PCDHG@, PCDHGA1 +20 more (G797R)	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)	not specified	GUncertain significance
Select item 2406285	NM_018929.3(PCDHGC5):c.95G>A (p.Arg32His)	PCDHG@, PCDHGA1 +21 more (R32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386614	NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His)	PCDHG@, PCDHGA1 +21 more (R73H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2206992	NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His)	PCDHG@, PCDHGA1 +21 more (R118H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398072	NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys)	PCDHG@, PCDHGA1 +21 more (R141C)	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 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 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 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 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 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 2314683	NM_018929.3(PCDHGC5):c.684C>G (p.Ile228Met)	PCDHG@, PCDHGA1 +21 more (I228M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223800	NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser)	PCDHG@, PCDHGA1 +21 more (N236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615899	NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His)	PCDHG@, PCDHGA1 +21 more (Q243H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407462	NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His)	PCDHG@, PCDHGA1 +21 more (P297H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361105	NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His)	PCDHG@, PCDHGA1 +21 more (R314H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375391	NM_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly)	PCDHG@, PCDHGA1 +21 more (R323G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324026	NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys)	PCDHG@, PCDHGA1 +21 more (R323C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372154	NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His)	PCDHG@, PCDHGA1 +21 more (R323H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395091	NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp)	PCDHGB1, PCDHGB2 +21 more (R377W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387836	NM_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln)	PCDHG@, PCDHGA1 +21 more (R377Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323100	NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met)	PCDHG@, PCDHGA1 +21 more (V385M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776070	NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2620508	NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val)	PCDHG@, PCDHGA1 +21 more (E401V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477706	NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg)	PCDHG@, PCDHGA1 +21 more (P469R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776071	NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2288129	NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser)	PCDHG@, PCDHGA1 +21 more (P511S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284153	NM_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu)	PCDHG@, PCDHGA1 +21 more (M529L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562487	NM_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln)	PCDHG@, PCDHGA1 +21 more (R537Q)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2471246	NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg)	PCDHG@, PCDHGA1 +21 more (H545R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239806	NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys)	PCDHG@, PCDHGA1 +21 more (E572K)	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 2278680	NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr)	PCDHG@, PCDHGA1 +21 more (A615T)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 792014	NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=)	PCDHGB7, PCDHGC4 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776072	NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2611288	NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys)	PCDHG@, PCDHGA1 +21 more (E672K)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2375633	NM_018929.3(PCDHGC5):c.2084T>C (p.Ile695Thr)	PCDHG@, PCDHGA1 +21 more (I695T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729017	NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=)	PCDHGA10, PCDHGA11 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2492810	NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr)	PCDHG@, PCDHGA1 +21 more (D724Y)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2204216	NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu)	PCDHG@, PCDHGA1 +21 more (D768E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294423	NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp)	PCDHG@, PCDHGA1 +21 more (G784D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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