PCDHB5[gene] - ClinVar

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Items: 83

	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 2219582	NM_015669.5(PCDHB5):c.121A>G (p.Ser41Gly)	PCDHB5, PCDHB@ (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304883	NM_015669.5(PCDHB5):c.131C>T (p.Ser44Phe)	PCDHB5, PCDHB@ (S44F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315068	NM_015669.5(PCDHB5):c.134T>C (p.Val45Ala)	PCDHB5, PCDHB@ (V45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473019	NM_015669.5(PCDHB5):c.193C>G (p.Arg65Gly)	PCDHB5, PCDHB@ (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235173	NM_015669.5(PCDHB5):c.245G>A (p.Gly82Asp)	PCDHB5, PCDHB@ (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322418	NM_015669.5(PCDHB5):c.271G>T (p.Asp91Tyr)	PCDHB5, PCDHB@ (D91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304884	NM_015669.5(PCDHB5):c.275G>A (p.Arg92Gln)	PCDHB5, PCDHB@ (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594385	NM_015669.5(PCDHB5):c.472C>G (p.Gln158Glu)	PCDHB5, PCDHB@ (Q158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334031	NM_015669.5(PCDHB5):c.511A>C (p.Thr171Pro)	PCDHB5, PCDHB@ (T171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552833	NM_015669.5(PCDHB5):c.590A>T (p.Asp197Val)	PCDHB5, PCDHB@ (D197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473708	NM_015669.5(PCDHB5):c.614G>A (p.Arg205Gln)	PCDHB5, PCDHB@ (R205Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488361	NM_015669.5(PCDHB5):c.625A>G (p.Ser209Gly)	PCDHB5, PCDHB@ (S209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209764	NM_015669.5(PCDHB5):c.716C>T (p.Ala239Val)	PCDHB5, PCDHB@ (A239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209765	NM_015669.5(PCDHB5):c.749A>G (p.Gln250Arg)	PCDHB5, PCDHB@ (Q250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529914	NM_015669.5(PCDHB5):c.787G>C (p.Val263Leu)	PCDHB5, PCDHB@ (V263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494407	NM_015669.5(PCDHB5):c.858A>C (p.Glu286Asp)	PCDHB5, PCDHB@ (E286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209766	NM_015669.5(PCDHB5):c.892G>T (p.Ala298Ser)	PCDHB5, PCDHB@ (A298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304877	NM_015669.5(PCDHB5):c.946G>A (p.Val316Met)	PCDHB5, PCDHB@ (V316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209767	NM_015669.5(PCDHB5):c.956T>C (p.Val319Ala)	PCDHB5, PCDHB@ (V319A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397635	NM_015669.5(PCDHB5):c.1051C>G (p.Leu351Val)	PCDHB5, PCDHB@ (L351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294740	NM_015669.5(PCDHB5):c.1093G>T (p.Ala365Ser)	PCDHB5, PCDHB@ (A365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289000	NM_015669.5(PCDHB5):c.1115C>T (p.Pro372Leu)	PCDHB5, PCDHB@ (P372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615522	NM_015669.5(PCDHB5):c.1228A>G (p.Arg410Gly)	PCDHB5, PCDHB@ (R410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338642	NM_015669.5(PCDHB5):c.1246T>C (p.Tyr416His)	PCDHB5, PCDHB@ (Y416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209750	NM_015669.5(PCDHB5):c.1274T>C (p.Met425Thr)	PCDHB5, PCDHB@ (M425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209751	NM_015669.5(PCDHB5):c.1378C>G (p.Arg460Gly)	PCDHB5, PCDHB@ (R460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604461	NM_015669.5(PCDHB5):c.1424C>T (p.Thr475Ile)	PCDHB5, PCDHB@ (T475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491965	NM_015669.5(PCDHB5):c.1442C>T (p.Thr481Ile)	PCDHB5, PCDHB@ (T481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209753	NM_015669.5(PCDHB5):c.1453G>A (p.Val485Ile)	PCDHB5, PCDHB@ (V485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313699	NM_015669.5(PCDHB5):c.1492C>T (p.Arg498Cys)	PCDHB5, PCDHB@ (R498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351896	NM_015669.5(PCDHB5):c.1532A>G (p.His511Arg)	PCDHB5, PCDHB@ (H511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225633	NM_015669.5(PCDHB5):c.1537T>C (p.Phe513Leu)	PCDHB5, PCDHB@ (F513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304881	NM_015669.5(PCDHB5):c.1565C>A (p.Ala522Asp)	PCDHB5, PCDHB@ (A522D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209754	NM_015669.5(PCDHB5):c.1598C>G (p.Thr533Arg)	PCDHB5, PCDHB@ (T533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216011	NM_015669.5(PCDHB5):c.1625G>C (p.Ser542Thr)	PCDHB5, PCDHB@ (S542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274141	NM_015669.5(PCDHB5):c.1626C>A (p.Ser542Arg)	PCDHB5, PCDHB@ (S542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594452	NM_015669.5(PCDHB5):c.1645C>G (p.Leu549Val)	PCDHB5, PCDHB@ (L549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304882	NM_015669.5(PCDHB5):c.1663G>C (p.Asp555His)	PCDHB5, PCDHB@ (D555H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481004	NM_015669.5(PCDHB5):c.1667A>G (p.Asn556Ser)	PCDHB5, PCDHB@ (N556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361069	NM_015669.5(PCDHB5):c.1670C>G (p.Ser557Trp)	PCDHB5, PCDHB@ (S557W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402970	NM_015669.5(PCDHB5):c.1698C>A (p.Asn566Lys)	PCDHB5, PCDHB@ (N566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208244	NM_015669.5(PCDHB5):c.1717G>C (p.Glu573Gln)	PCDHB5, PCDHB@ (E573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209755	NM_015669.5(PCDHB5):c.1729C>T (p.Arg577Trp)	PCDHB5, PCDHB@ (R577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340592	NM_015669.5(PCDHB5):c.1744G>C (p.Gly582Arg)	PCDHB5, PCDHB@ (G582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343597	NM_015669.5(PCDHB5):c.1787G>A (p.Gly596Asp)	PCDHB5, PCDHB@ (G596D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209756	NM_015669.5(PCDHB5):c.1790A>T (p.Gln597Leu)	PCDHB5, PCDHB@ (Q597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304879	NM_015669.5(PCDHB5):c.1832C>T (p.Pro611Leu)	PCDHB5, PCDHB@ (P611L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329423	NM_015669.5(PCDHB5):c.1954T>C (p.Ser652Pro)	PCDHB5, PCDHB@ (S652P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209757	NM_015669.5(PCDHB5):c.1974C>A (p.His658Gln)	PCDHB5, PCDHB@ (H658Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209758	NM_015669.5(PCDHB5):c.1990G>C (p.Gly664Arg)	PCDHB5, PCDHB@ (G664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469785	NM_015669.5(PCDHB5):c.2012C>G (p.Pro671Arg)	PCDHB5, PCDHB@ (P671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655808	NM_015669.5(PCDHB5):c.2028C>A (p.Ala676=)	PCDHB5, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328716	NM_015669.5(PCDHB5):c.2045C>T (p.Ala682Val)	PCDHB5, PCDHB@ (A682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304878	NM_015669.5(PCDHB5):c.2090C>G (p.Ser697Trp)	PCDHB5, PCDHB@ (S697W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409281	NM_015669.5(PCDHB5):c.2146A>G (p.Ser716Gly)	PCDHB5, PCDHB@ (S716G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371217	NM_015669.5(PCDHB5):c.2167C>A (p.Arg723Ser)	PCDHB5, PCDHB@ (R723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209759	NM_015669.5(PCDHB5):c.2183A>G (p.Glu728Gly)	PCDHB5, PCDHB@ (E728G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287901	NM_015669.5(PCDHB5):c.2200C>T (p.His734Tyr)	PCDHB5, PCDHB@ (H734Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209760	NM_015669.5(PCDHB5):c.2212G>T (p.Val738Leu)	PCDHB5, PCDHB@ (V738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524798	NM_015669.5(PCDHB5):c.2219G>A (p.Gly740Asp)	PCDHB5, PCDHB@ (G740D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209968	NM_015669.5(PCDHB5):c.2219G>C (p.Gly740Ala)	PCDHB5, PCDHB@ (G740A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218335	NM_015669.5(PCDHB5):c.2249A>T (p.Tyr750Phe)	PCDHB5, PCDHB@ (Y750F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209761	NM_015669.5(PCDHB5):c.2292G>T (p.Lys764Asn)	PCDHB5, PCDHB@ (K764N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212948	NM_015669.5(PCDHB5):c.2303C>G (p.Pro768Arg)	PCDHB5, PCDHB@ (P768R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209762	NM_015669.5(PCDHB5):c.2332G>T (p.Ala778Ser)	PCDHB5, PCDHB@ (A778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808769	GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3	PCDHA1, PCDHA10 +49 more	Copy number gain	not provided	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +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	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 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	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 83