PCDHGC5[gene] - ClinVar

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Items: 74

	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	LOC129995052, LOC129995053 +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	DELE1, DIAPH1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
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)	PCDHGA11, PCDHGA12 +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)	PCDHGA4, PCDHGA5 +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)	PCDHGA10, PCDHGA11 +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)	PCDHGC3, PCDHGC4 +21 more (R537Q)	Single nucleotide variant (missense 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)	PCDHGA3, PCDHGA6 +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
Select item 2258502	NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr)	PCDHG@, PCDHGA1 +21 more (P798T)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2493876	NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val)	PCDHG@, PCDHGA1 +21 more (L815V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601008	NM_002588.4(PCDHGC3):c.2431C>A (p.Gln811Lys)	PCDHG@, PCDHGA1 +21 more (Q800K +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209841	NM_018912.3(PCDHGA1):c.2478C>A (p.Ser826Arg)	PCDHG@, PCDHGA1 +21 more (S818R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 739048	NM_018913.3(PCDHGA10):c.2640C>T (p.Ser880=)	PCDHGA10, PCDHGA11 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723584	NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 751089	NM_018913.3(PCDHGA10):c.2673C>T (p.His891=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352062	NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His)	PCDHG@, PCDHGA1 +21 more (R883H +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210106	NM_018927.4(PCDHGB7):c.2693A>G (p.Asn898Ser)	PCDHG@, PCDHGA1 +21 more (N905S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	FAM13B, FAM53C +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441633	GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3	DIAPH1, PCDHGA1 +23 more	Copy number gain	See cases	GLikely benign
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 74