PCDHB1[gene] - ClinVar

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Items: 67

	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 2341379	NM_013340.4(PCDHB1):c.55A>T (p.Ile19Phe)	PCDHB1, PCDHB1-AS1 +1 more (I19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542449	NM_013340.4(PCDHB1):c.59T>C (p.Phe20Ser)	PCDHB1, PCDHB1-AS1 +1 more (F20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209550	NM_013340.4(PCDHB1):c.92T>A (p.Ile31Asn)	PCDHB1, PCDHB1-AS1 +1 more (I31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209538	NM_013340.4(PCDHB1):c.116T>C (p.Met39Thr)	PCDHB1, PCDHB1-AS1 +1 more (M39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209540	NM_013340.4(PCDHB1):c.125G>C (p.Gly42Ala)	PCDHB1, PCDHB1-AS1 +1 more (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566339	NM_013340.4(PCDHB1):c.215A>G (p.Lys72Arg)	PCDHB1, PCDHB1-AS1 +1 more (K72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623097	NM_013340.4(PCDHB1):c.263A>C (p.Glu88Ala)	PCDHB1, PCDHB1-AS1 +1 more (E88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338935	NM_013340.4(PCDHB1):c.301C>T (p.Pro101Ser)	PCDHB1, PCDHB1-AS1 +1 more (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209549	NM_013340.4(PCDHB1):c.373G>T (p.Asp125Tyr)	PCDHB1, PCDHB1-AS1 +1 more (D125Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618020	NM_013340.4(PCDHB1):c.382G>T (p.Asp128Tyr)	PCDHB1, PCDHB1-AS1 +1 more (D128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304778	NM_013340.4(PCDHB1):c.407A>G (p.Lys136Arg)	PCDHB1, PCDHB1-AS1 +1 more (K136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261523	NM_013340.4(PCDHB1):c.411G>T (p.Glu137Asp)	PCDHB1, PCDHB1-AS1 +1 more (E137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299447	NM_013340.4(PCDHB1):c.541C>T (p.His181Tyr)	PCDHB1, PCDHB1-AS1 +1 more (H181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314742	NM_013340.4(PCDHB1):c.714C>A (p.His238Gln)	PCDHB1, PCDHB1-AS1 +1 more (H238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334683	NM_013340.4(PCDHB1):c.779T>C (p.Leu260Ser)	PCDHB1, PCDHB1-AS1 +1 more (L260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604686	NM_013340.4(PCDHB1):c.809A>G (p.Asp270Gly)	PCDHB1, PCDHB1-AS1 +1 more (D270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351656	NM_013340.4(PCDHB1):c.911G>C (p.Arg304Thr)	PCDHB1, PCDHB1-AS1 +1 more (R304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304775	NM_013340.4(PCDHB1):c.946G>A (p.Asp316Asn)	PCDHB1, PCDHB1-AS1 +1 more (D316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556636	NM_013340.4(PCDHB1):c.967G>A (p.Asp323Asn)	PCDHB1, PCDHB1-AS1 +1 more (D323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216911	NM_013340.4(PCDHB1):c.994A>G (p.Lys332Glu)	PCDHB1, PCDHB1-AS1 +1 more (K332E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304776	NM_013340.4(PCDHB1):c.1085C>T (p.Pro362Leu)	PCDHB1, PCDHB1-AS1 +1 more (P362L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209537	NM_013340.4(PCDHB1):c.1120C>T (p.Arg374Trp)	PCDHB1, PCDHB1-AS1 +1 more (R374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462314	NM_013340.4(PCDHB1):c.1171C>A (p.Pro391Thr)	PCDHB1, PCDHB1-AS1 +1 more (P391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234111	NM_013340.4(PCDHB1):c.1195G>A (p.Gly399Arg)	PCDHB1, PCDHB1-AS1 +1 more (G399R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209539	NM_013340.4(PCDHB1):c.1234C>T (p.Arg412Trp)	PCDHB1, PCDHB1-AS1 +1 more (R412W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528409	NM_013340.4(PCDHB1):c.1250G>A (p.Gly417Asp)	PCDHB1, PCDHB1-AS1 +1 more (G417D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209541	NM_013340.4(PCDHB1):c.1270G>C (p.Ala424Pro)	PCDHB1, PCDHB1-AS1 +1 more (A424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306752	NM_013340.4(PCDHB1):c.1330G>A (p.Asp444Asn)	PCDHB1, PCDHB1-AS1 +1 more (D444N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560756	NM_013340.4(PCDHB1):c.1378A>C (p.Thr460Pro)	PCDHB1, PCDHB1-AS1 +1 more (T460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269559	NM_013340.4(PCDHB1):c.1402G>A (p.Ala468Thr)	PCDHB1, PCDHB1-AS1 +1 more (A468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209542	NM_013340.4(PCDHB1):c.1412T>G (p.Ile471Ser)	PCDHB1, PCDHB1-AS1 +1 more (I471S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316092	NM_013340.4(PCDHB1):c.1483A>G (p.Lys495Glu)	PCDHB1, PCDHB1-AS1 +1 more (K495E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209544	NM_013340.4(PCDHB1):c.1589T>G (p.Phe530Cys)	PCDHB1, PCDHB1-AS1 +1 more (F530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161667	NM_013340.4(PCDHB1):c.1655T>C (p.Val552Ala)	PCDHB1, PCDHB1-AS1 +1 more (V552A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2365387	NM_013340.4(PCDHB1):c.1725C>A (p.Asp575Glu)	PCDHB1, PCDHB1-AS1 +1 more (D575E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491477	NM_013340.4(PCDHB1):c.1742C>T (p.Ala581Val)	PCDHB1, PCDHB1-AS1 +1 more (A581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209545	NM_013340.4(PCDHB1):c.1759G>A (p.Val587Met)	PCDHB1, PCDHB1-AS1 +1 more (V587M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209546	NM_013340.4(PCDHB1):c.1760T>C (p.Val587Ala)	PCDHB1, PCDHB1-AS1 +1 more (V587A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236745	NM_013340.4(PCDHB1):c.1924A>G (p.Ile642Val)	PCDHB1, PCDHB1-AS1 +1 more (I642V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304777	NM_013340.4(PCDHB1):c.1978A>C (p.Asn660His)	PCDHB1, PCDHB1-AS1 +1 more (N660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288417	NM_013340.4(PCDHB1):c.2059T>C (p.Ser687Pro)	PCDHB1, PCDHB1-AS1 +1 more (S687P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394498	NM_013340.4(PCDHB1):c.2138A>G (p.His713Arg)	PCDHB1, PCDHB1-AS1 +1 more (H713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209547	NM_013340.4(PCDHB1):c.2302T>G (p.Phe768Val)	PCDHB1, PCDHB1-AS1 +1 more (F768V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213421	NM_013340.4(PCDHB1):c.2306G>A (p.Arg769His)	PCDHB1, PCDHB1-AS1 +1 more (R769H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209548	NM_013340.4(PCDHB1):c.2309T>C (p.Phe770Ser)	PCDHB1, PCDHB1-AS1 +1 more (F770S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471876	NM_013340.4(PCDHB1):c.2383T>G (p.Leu795Val)	PCDHB1, PCDHB1-AS1 +1 more (L795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549788	NM_013340.4(PCDHB1):c.2403G>C (p.Arg801Ser)	PCDHB1, PCDHB1-AS1 +1 more (R801S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304779	NM_013340.4(PCDHB1):c.2405A>G (p.Asn802Ser)	PCDHB1, PCDHB1-AS1 +1 more (N802S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464396	NM_013340.4(PCDHB1):c.2426G>A (p.Gly809Asp)	PCDHB1, PCDHB1-AS1 +1 more (G809D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613483	NM_013340.4(PCDHB1):c.2443G>A (p.Asp815Asn)	PCDHB1, PCDHB1-AS1 +1 more (D815N)	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: 67