PCDHB4[gene] - ClinVar

Search results

Items: 94

	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 2550419	NM_018938.4(PCDHB4):c.5A>G (p.Lys2Arg)	PCDHB4, PCDHB@ (K2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358617	NM_018938.4(PCDHB4):c.17G>A (p.Arg6Lys)	PCDHB4, PCDHB@ (R6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209747	NM_018938.4(PCDHB4):c.95A>T (p.Tyr32Phe)	PCDHB4, PCDHB@ (Y32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209736	NM_018938.4(PCDHB4):c.125C>A (p.Ser42Tyr)	PCDHB4, PCDHB@ (S42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792012	NM_018938.4(PCDHB4):c.130G>T (p.Val44Leu)	PCDHB4, PCDHB@ (V44L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776068	NM_018938.4(PCDHB4):c.179C>T (p.Ser60Phe)	PCDHB4, PCDHB@ (S60F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402446	NM_018938.4(PCDHB4):c.181C>G (p.Arg61Gly)	PCDHB4, PCDHB@ (R61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209739	NM_018938.4(PCDHB4):c.217C>G (p.Arg73Gly)	PCDHB4, PCDHB@ (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209744	NM_018938.4(PCDHB4):c.271C>T (p.Arg91Trp)	PCDHB4, PCDHB@ (R91W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213123	NM_018938.4(PCDHB4):c.491A>G (p.Asn164Ser)	PCDHB4, PCDHB@ (N164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780568	NM_018938.4(PCDHB4):c.503A>G (p.Lys168Arg)	PCDHB4, PCDHB@ (K168R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342587	NM_018938.4(PCDHB4):c.586G>A (p.Asp196Asn)	PCDHB4, PCDHB@ (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1182422	NM_018938.4(PCDHB4):c.597G>A (p.Leu199=)	PCDHB@, PCDHB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732844	NM_018938.4(PCDHB4):c.630C>T (p.Thr210=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371470	NM_018938.4(PCDHB4):c.634G>A (p.Val212Met)	PCDHB4, PCDHB@ (V212M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209745	NM_018938.4(PCDHB4):c.638C>G (p.Ala213Gly)	PCDHB4, PCDHB@ (A213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471632	NM_018938.4(PCDHB4):c.652T>A (p.Ser218Thr)	PCDHB4, PCDHB@ (S218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209746	NM_018938.4(PCDHB4):c.678G>A (p.Met226Ile)	PCDHB4, PCDHB@ (M226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242104	NM_018938.4(PCDHB4):c.763C>T (p.Pro255Ser)	PCDHB4, PCDHB@ (P255S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1223922	NM_018938.4(PCDHB4):c.764C>T (p.Pro255Leu)	PCDHB4, PCDHB@ (P255L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360012	NM_018938.4(PCDHB4):c.772T>C (p.Ser258Pro)	PCDHB4, PCDHB@ (S258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302771	NM_018938.4(PCDHB4):c.803T>C (p.Ile268Thr)	PCDHB4, PCDHB@ (I268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778217	NM_018938.4(PCDHB4):c.853G>C (p.Asp285His)	PCDHB4, PCDHB@ (D285H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 183300	NM_018938.4(PCDHB4):c.915del (p.Lys305fs)	PCDHB4, PCDHB@ (K305fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2283593	NM_018938.4(PCDHB4):c.931A>C (p.Ile311Leu)	PCDHB4, PCDHB@ (I311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335870	NM_018938.4(PCDHB4):c.932T>C (p.Ile311Thr)	PCDHB4, PCDHB@ (I311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297400	NM_018938.4(PCDHB4):c.932T>G (p.Ile311Ser)	PCDHB4, PCDHB@ (I311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209748	NM_018938.4(PCDHB4):c.968G>C (p.Gly323Ala)	PCDHB4, PCDHB@ (G323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209734	NM_018938.4(PCDHB4):c.1024A>G (p.Asn342Asp)	PCDHB4, PCDHB@ (N342D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331928	NM_018938.4(PCDHB4):c.1039A>T (p.Ile347Phe)	PCDHB4, PCDHB@ (I347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598550	NM_018938.4(PCDHB4):c.1060T>A (p.Ser354Thr)	PCDHB4, PCDHB@ (S354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598551	NM_018938.4(PCDHB4):c.1061C>A (p.Ser354Tyr)	PCDHB4, PCDHB@ (S354Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655807	NM_018938.4(PCDHB4):c.1079_1080del (p.Pro360fs)	PCDHB4, PCDHB@ (P360fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 784630	NM_018938.4(PCDHB4):c.1153C>T (p.Pro385Ser)	PCDHB4, PCDHB@ (P385S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2278777	NM_018938.4(PCDHB4):c.1172T>C (p.Ile391Thr)	PCDHB4, PCDHB@ (I391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612974	NM_018938.4(PCDHB4):c.1187T>G (p.Leu396Trp)	PCDHB4, PCDHB@ (L396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474375	NM_018938.4(PCDHB4):c.1239C>A (p.Ser413Arg)	PCDHB4, PCDHB@ (S413R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243946	NM_018938.4(PCDHB4):c.1249A>T (p.Asn417Tyr)	PCDHB4, PCDHB@ (N417Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268144	NM_018938.4(PCDHB4):c.1277G>A (p.Gly426Glu)	PCDHB4, PCDHB@ (G426E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791579	NM_018938.4(PCDHB4):c.1339G>C (p.Ala447Pro)	PCDHB4, PCDHB@ (A447P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791580	NM_018938.4(PCDHB4):c.1340C>A (p.Ala447Asp)	PCDHB4, PCDHB@ (A447D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514861	NM_018938.4(PCDHB4):c.1343C>G (p.Pro448Arg)	PCDHB4, PCDHB@ (P448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410650	NM_018938.4(PCDHB4):c.1374C>A (p.Phe458Leu)	PCDHB4, PCDHB@ (F458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366475	NM_018938.4(PCDHB4):c.1375G>C (p.Val459Leu)	PCDHB4, PCDHB@ (V459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788989	NM_018938.4(PCDHB4):c.1437G>A (p.Ser479=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719173	NM_018938.4(PCDHB4):c.1451A>G (p.Gln484Arg)	PCDHB4, PCDHB@ (Q484R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2373594	NM_018938.4(PCDHB4):c.1480G>A (p.Asp494Asn)	PCDHB4, PCDHB@ (D494N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322357	NM_018938.4(PCDHB4):c.1507G>A (p.Val503Ile)	PCDHB4, PCDHB@ (V503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459881	NM_018938.4(PCDHB4):c.1517A>G (p.Asn506Ser)	PCDHB4, PCDHB@ (N506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769660	NM_018938.4(PCDHB4):c.1521A>G (p.Ala507=)	PCDHB@, PCDHB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526425	NM_018938.4(PCDHB4):c.1543C>T (p.Leu515Phe)	PCDHB4, PCDHB@ (L515F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458308	NM_018938.4(PCDHB4):c.1548G>T (p.Arg516Ser)	PCDHB4, PCDHB@ (R516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707906	NM_018938.4(PCDHB4):c.1572G>A (p.Gln524=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330549	NM_018938.4(PCDHB4):c.1601A>G (p.Asp534Gly)	PCDHB4, PCDHB@ (D534G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401881	NM_018938.4(PCDHB4):c.1648G>A (p.Val550Met)	PCDHB4, PCDHB@ (V550M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769310	NM_018938.4(PCDHB4):c.1657A>G (p.Thr553Ala)	PCDHB4, PCDHB@ (T553A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524981	NM_018938.4(PCDHB4):c.1698T>G (p.Asn566Lys)	PCDHB4, PCDHB@ (N566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730740	NM_018938.4(PCDHB4):c.1704C>T (p.Ser568=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217032	NM_018938.4(PCDHB4):c.1796C>G (p.Ala599Gly)	PCDHB4, PCDHB@ (A599G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791581	NM_018938.4(PCDHB4):c.1833T>C (p.Pro611=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539604	NM_018938.4(PCDHB4):c.1858A>G (p.Asn620Asp)	PCDHB4, PCDHB@ (N620D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216618	NM_018938.4(PCDHB4):c.1890C>G (p.Ser630Arg)	PCDHB4, PCDHB@ (S630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209738	NM_018938.4(PCDHB4):c.1911C>G (p.His637Gln)	PCDHB4, PCDHB@ (H637Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753651	NM_018938.4(PCDHB4):c.1917C>G (p.Leu639=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719966	NM_018938.4(PCDHB4):c.1989T>C (p.Asp663=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719967	NM_018938.4(PCDHB4):c.1998C>T (p.Ser666=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288920	NM_018938.4(PCDHB4):c.2006A>G (p.Tyr669Cys)	PCDHB4, PCDHB@ (Y669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747021	NM_018938.4(PCDHB4):c.2052T>G (p.Ser684=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681466	NM_018938.4(PCDHB4):c.2127G>A (p.Ala709=)	PCDHB4, PCDHB@	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3209740	NM_018938.4(PCDHB4):c.2185G>A (p.Gly729Ser)	PCDHB4, PCDHB@ (G729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368556	NM_018938.4(PCDHB4):c.2202T>G (p.His734Gln)	PCDHB4, PCDHB@ (H734Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399358	NM_018938.4(PCDHB4):c.2231T>A (p.Leu744Gln)	PCDHB4, PCDHB@ (L744Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209742	NM_018938.4(PCDHB4):c.2321T>G (p.Leu774Trp)	PCDHB4, PCDHB@ (L774W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209743	NM_018938.4(PCDHB4):c.2328G>C (p.Gln776His)	PCDHB4, PCDHB@ (Q776H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228862	NM_018938.4(PCDHB4):c.2329G>C (p.Asp777His)	PCDHB4, PCDHB@ (D777H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249013	NM_018938.4(PCDHB4):c.2367A>T (p.Arg789Ser)	PCDHB4, PCDHB@ (R789S)	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	LRRTM2, MATR3 +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	AFF4, CCDC69 +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: 94