PCDHB8[gene] - ClinVar

Search results

Items: 93

	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 2278465	NM_019120.5(PCDHB8):c.123G>C (p.Glu41Asp)	PCDHB8, PCDHB@ (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770359	NM_019120.5(PCDHB8):c.164T>C (p.Leu55Pro)	PCDHB8, PCDHB@ (L55P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655814	NM_019120.5(PCDHB8):c.256T>C (p.Leu86=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519946	NM_019120.5(PCDHB8):c.323A>C (p.Gln108Pro)	PCDHB8, PCDHB@ (Q108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611030	NM_019120.5(PCDHB8):c.325G>A (p.Val109Met)	PCDHB8, PCDHB@ (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222189	NM_019120.5(PCDHB8):c.364C>G (p.Leu122Val)	PCDHB8, PCDHB@ (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222190	NM_019120.5(PCDHB8):c.417G>T (p.Met139Ile)	PCDHB8, PCDHB@ (M139I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209817	NM_019120.5(PCDHB8):c.427G>A (p.Val143Ile)	PCDHB8, PCDHB@ (V143I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209819	NM_019120.5(PCDHB8):c.454G>A (p.Ala152Thr)	PCDHB8, PCDHB@ (A152T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278987	NM_019120.5(PCDHB8):c.455C>A (p.Ala152Glu)	PCDHB8, PCDHB@ (A152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655815	NM_019120.5(PCDHB8):c.558C>T (p.Arg186=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528695	NM_019120.5(PCDHB8):c.631T>G (p.Leu211Val)	PCDHB8, PCDHB@ (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655816	NM_019120.5(PCDHB8):c.705T>C (p.Asp235=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600227	NM_019120.5(PCDHB8):c.749T>C (p.Val250Ala)	PCDHB8, PCDHB@ (V250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209820	NM_019120.5(PCDHB8):c.753G>T (p.Gln251His)	PCDHB8, PCDHB@ (Q251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469200	NM_019120.5(PCDHB8):c.776G>C (p.Ser259Thr)	PCDHB8, PCDHB@ (S259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209821	NM_019120.5(PCDHB8):c.861T>G (p.Asp287Glu)	PCDHB8, PCDHB@ (D287E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209822	NM_019120.5(PCDHB8):c.886G>A (p.Asp296Asn)	PCDHB8, PCDHB@ (D296N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261456	NM_019120.5(PCDHB8):c.904A>G (p.Ile302Val)	PCDHB8, PCDHB@ (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378245	NM_019120.5(PCDHB8):c.1049T>A (p.Met350Lys)	PCDHB8, PCDHB@ (M350K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209805	NM_019120.5(PCDHB8):c.1075G>A (p.Glu359Lys)	PCDHB8, PCDHB@ (E359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339828	NM_019120.5(PCDHB8):c.1082C>A (p.Ala361Glu)	PCDHB8, PCDHB@ (A361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209806	NM_019120.5(PCDHB8):c.1138G>A (p.Gly380Arg)	PCDHB8, PCDHB@ (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298908	NM_019120.5(PCDHB8):c.1150T>C (p.Cys384Arg)	PCDHB8, PCDHB@ (C384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209807	NM_019120.5(PCDHB8):c.1162G>A (p.Glu388Lys)	PCDHB8, PCDHB@ (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209808	NM_019120.5(PCDHB8):c.1240A>T (p.Ser414Cys)	PCDHB8, PCDHB@ (S414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209809	NM_019120.5(PCDHB8):c.1301C>G (p.Thr434Arg)	PCDHB8, PCDHB@ (T434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209810	NM_019120.5(PCDHB8):c.1315A>G (p.Thr439Ala)	PCDHB8, PCDHB@ (T439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309764	NM_019120.5(PCDHB8):c.1424G>A (p.Ser475Asn)	PCDHB8, PCDHB@ (S475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363499	NM_019120.5(PCDHB8):c.1425C>A (p.Ser475Arg)	PCDHB8, PCDHB@ (S475R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246448	NM_019120.5(PCDHB8):c.1441T>G (p.Ser481Ala)	PCDHB8, PCDHB@ (S481A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768034	NM_019120.5(PCDHB8):c.1443G>A (p.Ser481=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209811	NM_019120.5(PCDHB8):c.1452C>G (p.Asn484Lys)	PCDHB8, PCDHB@ (N484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250956	NM_019120.5(PCDHB8):c.1453G>A (p.Ala485Thr)	PCDHB8, PCDHB@ (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302458	NM_019120.5(PCDHB8):c.1478C>G (p.Pro493Arg)	PCDHB8, PCDHB@ (P493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768035	NM_019120.5(PCDHB8):c.1488T>C (p.Asp496=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209812	NM_019120.5(PCDHB8):c.1501C>G (p.Leu501Val)	PCDHB8, PCDHB@ (L501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461585	NM_019120.5(PCDHB8):c.1525A>G (p.Thr509Ala)	PCDHB8, PCDHB@ (T509A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320878	NM_019120.5(PCDHB8):c.1603T>G (p.Ser535Ala)	PCDHB8, PCDHB@ (S535A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1259488	NM_019120.5(PCDHB8):c.1705G>A (p.Gly569Ser)	PCDHB8, PCDHB@ (G569S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3209813	NM_019120.5(PCDHB8):c.1706G>A (p.Gly569Asp)	PCDHB8, PCDHB@ (G569D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403834	NM_019120.5(PCDHB8):c.1712C>T (p.Ala571Val)	PCDHB8, PCDHB@ (A571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655817	NM_019120.5(PCDHB8):c.1728G>A (p.Leu576=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768036	NM_019120.5(PCDHB8):c.1735C>T (p.Arg579Trp)	PCDHB8, PCDHB@ (R579W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769661	NM_019120.5(PCDHB8):c.1845G>A (p.Leu615=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485944	NM_019120.5(PCDHB8):c.1862A>G (p.His621Arg)	PCDHB8, PCDHB@ (H621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340031	NM_019120.5(PCDHB8):c.1900C>G (p.Arg634Gly)	PCDHB8, PCDHB@ (R634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768037	NM_019120.5(PCDHB8):c.1917G>C (p.Gln639His)	PCDHB8, PCDHB@ (Q639H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655818	NM_019120.5(PCDHB8):c.1921C>T (p.Leu641=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281241	NM_019120.5(PCDHB8):c.1973C>T (p.Thr658Met)	PCDHB8, PCDHB@ (T658M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509597	NM_019120.5(PCDHB8):c.1995C>G (p.Asp665Glu)	PCDHB8, PCDHB@ (D665E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211141	NM_019120.5(PCDHB8):c.1996G>C (p.Gly666Arg)	PCDHB8, PCDHB@ (G666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242942	NM_019120.5(PCDHB8):c.2027A>G (p.Glu676Gly)	PCDHB8, PCDHB@ (E676G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215095	NM_019120.5(PCDHB8):c.2044G>A (p.Gly682Ser)	PCDHB8, PCDHB@ (G682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209814	NM_019120.5(PCDHB8):c.2045G>C (p.Gly682Ala)	PCDHB8, PCDHB@ (G682A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301736	NM_019120.5(PCDHB8):c.2047C>G (p.Gln683Glu)	PCDHB8, PCDHB@ (Q683E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240291	NM_019120.5(PCDHB8):c.2053G>A (p.Asp685Asn)	PCDHB8, PCDHB@ (D685N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227204	NM_019120.5(PCDHB8):c.2064C>G (p.Thr688=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210864	NM_019120.5(PCDHB8):c.2080G>A (p.Ala694Thr)	PCDHB8, PCDHB@ (A694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655819	NM_019120.5(PCDHB8):c.2091G>A (p.Ser697=)	PCDHB8, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399257	NM_019120.5(PCDHB8):c.2106C>G (p.Phe702Leu)	PCDHB8, PCDHB@ (F702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209815	NM_019120.5(PCDHB8):c.2114C>T (p.Ser705Leu)	PCDHB8, PCDHB@ (S705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369517	NM_019120.5(PCDHB8):c.2153G>A (p.Ser718Asn)	PCDHB8, PCDHB@ (S718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359990	NM_019120.5(PCDHB8):c.2164T>C (p.Ser722Pro)	PCDHB8, PCDHB@ (S722P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226919	NM_019120.5(PCDHB8):c.2174G>T (p.Arg725Leu)	PCDHB8, PCDHB@ (R725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606715	NM_019120.5(PCDHB8):c.2192G>A (p.Gly731Asp)	PCDHB8, PCDHB@ (G731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226173	NM_019120.5(PCDHB8):c.2203G>A (p.Gly735Arg)	PCDHB8, PCDHB@ (G735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542370	NM_019120.5(PCDHB8):c.2230G>T (p.Gly744Trp)	PCDHB8, PCDHB@ (G744W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780960	NM_019120.5(PCDHB8):c.2276G>T (p.Gly759Val)	PCDHB8, PCDHB@ (G759V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622419	NM_019120.5(PCDHB8):c.2282G>T (p.Gly761Val)	PCDHB8, PCDHB@ (G761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769198	NM_019120.5(PCDHB8):c.2299C>T (p.Leu767Phe)	PCDHB8, PCDHB@ (L767F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2337815	NM_019120.5(PCDHB8):c.2303T>G (p.Leu768Arg)	PCDHB8, PCDHB@ (L768R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604030	NM_019120.5(PCDHB8):c.2312T>A (p.Val771Glu)	PCDHB8, PCDHB@ (V771E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209816	NM_019120.5(PCDHB8):c.2349A>T (p.Glu783Asp)	PCDHB8, PCDHB@ (E783D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524485	NM_019120.5(PCDHB8):c.2367C>G (p.Asn789Lys)	PCDHB8, PCDHB@ (N789K)	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 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHB1, PCDHB10 +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	CDC25C, CDC42SE2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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
Select item 393961	GRCh37/hg19 5q31.3(chr5:140559899-140580412)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GLikely benign

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Items: 93