PCDHB6[gene] - ClinVar

Search results

Items: 82

	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 2310502	NM_018939.4(PCDHB6):c.41C>T (p.Ala14Val)	PCDHB6, PCDHB@ (A14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350594	NM_018939.4(PCDHB6):c.110A>C (p.Glu37Ala)	PCDHB6, PCDHB@ (E37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317019	NM_018939.4(PCDHB6):c.137A>G (p.Asn46Ser)	PCDHB6, PCDHB@ (N46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280879	NM_018939.4(PCDHB6):c.169G>A (p.Glu57Lys)	PCDHB6, PCDHB@ (E57K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373495	NM_018939.4(PCDHB6):c.179C>T (p.Ser60Leu)	PCDHB6, PCDHB@ (S60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209772	NM_018939.4(PCDHB6):c.184G>A (p.Gly62Ser)	PCDHB6, PCDHB@ (G62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512512	NM_018939.4(PCDHB6):c.200T>A (p.Phe67Tyr)	PCDHB6, PCDHB@ (F67Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209777	NM_018939.4(PCDHB6):c.244G>A (p.Asp82Asn)	PCDHB6, PCDHB@ (D82N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492700	NM_018939.4(PCDHB6):c.298C>T (p.Pro100Ser)	PCDHB6, PCDHB@ (P100S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2568545	NM_018939.4(PCDHB6):c.410T>C (p.Met137Thr)	PCDHB6, PCDHB@ (M137T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297949	NM_018939.4(PCDHB6):c.500A>G (p.Gln167Arg)	PCDHB6, PCDHB@ (Q31R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213076	NM_018939.4(PCDHB6):c.535G>T (p.Val179Phe)	PCDHB6, PCDHB@ (V43F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304885	NM_018939.4(PCDHB6):c.542C>A (p.Thr181Asn)	PCDHB6, PCDHB@ (T45N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339273	NM_018939.4(PCDHB6):c.649G>C (p.Gly217Arg)	PCDHB6, PCDHB@ (G217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355223	NM_018939.4(PCDHB6):c.662G>T (p.Arg221Leu)	PCDHB6, PCDHB@ (R221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274666	NM_018939.4(PCDHB6):c.676G>A (p.Glu226Lys)	PCDHB6, PCDHB@ (E226K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365405	NM_018939.4(PCDHB6):c.704A>G (p.Asn235Ser)	PCDHB6, PCDHB@ (N235S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209778	NM_018939.4(PCDHB6):c.787G>A (p.Val263Ile)	PCDHB6, PCDHB@ (V127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213043	NM_018939.4(PCDHB6):c.796A>G (p.Arg266Gly)	PCDHB6, PCDHB@ (R130G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209779	NM_018939.4(PCDHB6):c.812G>T (p.Gly271Val)	PCDHB6, PCDHB@ (G271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596162	NM_018939.4(PCDHB6):c.815C>G (p.Ser272Trp)	PCDHB6, PCDHB@ (S136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209780	NM_018939.4(PCDHB6):c.845A>G (p.Gln282Arg)	PCDHB6, PCDHB@ (Q146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234898	NM_018939.4(PCDHB6):c.1011C>A (p.Asp337Glu)	PCDHB6, PCDHB@ (D201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339272	NM_018939.4(PCDHB6):c.1037C>T (p.Thr346Ile)	PCDHB6, PCDHB@ (T210I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352350	NM_018939.4(PCDHB6):c.1039A>T (p.Met347Leu)	PCDHB6, PCDHB@ (M347L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530411	NM_018939.4(PCDHB6):c.1048T>C (p.Phe350Leu)	PCDHB6, PCDHB@ (F214L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209769	NM_018939.4(PCDHB6):c.1075C>G (p.Pro359Ala)	PCDHB6, PCDHB@ (P223A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324548	NM_018939.4(PCDHB6):c.1100G>C (p.Ser367Thr)	PCDHB6, PCDHB@ (S231T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336960	NM_018939.4(PCDHB6):c.1240G>C (p.Glu414Gln)	PCDHB6, PCDHB@ (E278Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611120	NM_018939.4(PCDHB6):c.1301G>A (p.Ser434Asn)	PCDHB6, PCDHB@ (S434N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209770	NM_018939.4(PCDHB6):c.1405G>C (p.Gly469Arg)	PCDHB6, PCDHB@ (G469R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472827	NM_018939.4(PCDHB6):c.1423G>A (p.Asp475Asn)	PCDHB6, PCDHB@ (D339N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410237	NM_018939.4(PCDHB6):c.1477G>T (p.Asp493Tyr)	PCDHB6, PCDHB@ (D357Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254880	NM_018939.4(PCDHB6):c.1530C>A (p.His510Gln)	PCDHB6, PCDHB@ (H374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338401	NM_018939.4(PCDHB6):c.1562C>T (p.Ala521Val)	PCDHB6, PCDHB@ (A385V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352108	NM_018939.4(PCDHB6):c.1571C>A (p.Ser524Tyr)	PCDHB6, PCDHB@ (S524Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339435	NM_018939.4(PCDHB6):c.1599C>A (p.Asp533Glu)	PCDHB6, PCDHB@ (D397E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525233	NM_018939.4(PCDHB6):c.1613C>G (p.Ala538Gly)	PCDHB6, PCDHB@ (A402G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225242	NM_018939.4(PCDHB6):c.1624G>C (p.Glu542Gln)	PCDHB6, PCDHB@ (E542Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655809	NM_018939.4(PCDHB6):c.1639T>G (p.Leu547Val)	PCDHB6, PCDHB@ (L411V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3304887	NM_018939.4(PCDHB6):c.1654G>A (p.Ala552Thr)	PCDHB6, PCDHB@ (A552T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655810	NM_018939.4(PCDHB6):c.1659C>T (p.Asn553=)	PCDHB6, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272070	NM_018939.4(PCDHB6):c.1771G>A (p.Asp591Asn)	PCDHB6, PCDHB@ (D455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395485	NM_018939.4(PCDHB6):c.1813C>A (p.Leu605Ile)	PCDHB6, PCDHB@ (L605I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352376	NM_018939.4(PCDHB6):c.1848G>C (p.Trp616Cys)	PCDHB6, PCDHB@ (W616C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209285	NM_018939.4(PCDHB6):c.1850C>A (p.Ala617Glu)	PCDHB6, PCDHB@ (A481E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336609	NM_018939.4(PCDHB6):c.1856A>T (p.Asn619Ile)	PCDHB6, PCDHB@ (N483I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655811	NM_018939.4(PCDHB6):c.1860C>G (p.Gly620=)	PCDHB6, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617699	NM_018939.4(PCDHB6):c.1887C>A (p.Ser629Arg)	PCDHB6, PCDHB@ (S493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307175	NM_018939.4(PCDHB6):c.1927A>G (p.Lys643Glu)	PCDHB6, PCDHB@ (K643E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467848	NM_018939.4(PCDHB6):c.1970A>G (p.His657Arg)	PCDHB6, PCDHB@ (H657R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655812	NM_018939.4(PCDHB6):c.1998G>A (p.Gln666=)	PCDHB6, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233362	NM_018939.4(PCDHB6):c.2026C>G (p.Pro676Ala)	PCDHB6, PCDHB@ (P540A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544472	NM_018939.4(PCDHB6):c.2027C>G (p.Pro676Arg)	PCDHB6, PCDHB@ (P540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209774	NM_018939.4(PCDHB6):c.2048C>T (p.Ser683Phe)	PCDHB6, PCDHB@ (S547F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490404	NM_018939.4(PCDHB6):c.2081C>T (p.Ser694Leu)	PCDHB6, PCDHB@ (S558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514436	NM_018939.4(PCDHB6):c.2098C>T (p.Leu700Phe)	PCDHB6, PCDHB@ (L564F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273820	NM_018939.4(PCDHB6):c.2194G>A (p.Gly732Arg)	PCDHB6, PCDHB@ (G732R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300558	NM_018939.4(PCDHB6):c.2201T>A (p.Leu734Gln)	PCDHB6, PCDHB@ (L734Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513532	NM_018939.4(PCDHB6):c.2215G>C (p.Gly739Arg)	PCDHB6, PCDHB@ (G603R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596185	NM_018939.4(PCDHB6):c.2222G>A (p.Gly741Glu)	PCDHB6, PCDHB@ (G605E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507573	NM_018939.4(PCDHB6):c.2299C>A (p.Pro767Thr)	PCDHB6, PCDHB@ (P631T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264682	NM_018939.4(PCDHB6):c.2312A>G (p.Asn771Ser)	PCDHB6, PCDHB@ (N635S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304886	NM_018939.4(PCDHB6):c.2375C>G (p.Pro792Arg)	PCDHB6, PCDHB@ (P656R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209775	NM_018939.4(PCDHB6):c.2375C>T (p.Pro792Leu)	PCDHB6, PCDHB@ (P656L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	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: 82