PCDHB16[gene] - ClinVar - NCBI

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	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 2257908	NM_020957.4(PCDHB16):c.13T>A (p.Trp5Arg)	PCDHB16, PCDHB@ (W5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513051	NM_020957.4(PCDHB16):c.23A>G (p.Asn8Ser)	PCDHB16, PCDHB@ (N8S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338108	NM_020957.4(PCDHB16):c.65G>A (p.Ser22Asn)	PCDHB16, PCDHB@ (S22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304846	NM_020957.4(PCDHB16):c.131T>C (p.Phe44Ser)	PCDHB16, PCDHB@ (F44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325879	NM_020957.4(PCDHB16):c.169A>T (p.Thr57Ser)	PCDHB16, PCDHB@ (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303211	NM_020957.4(PCDHB16):c.184C>G (p.Arg62Gly)	PCDHB16, PCDHB@ (R62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304847	NM_020957.4(PCDHB16):c.195G>T (p.Arg65Ser)	PCDHB16, PCDHB@ (R65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204301	NM_020957.4(PCDHB16):c.213C>G (p.Asn71Lys)	PCDHB16, PCDHB@ (N71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361721	NM_020957.4(PCDHB16):c.284T>C (p.Leu95Pro)	PCDHB16, PCDHB@ (L95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340502	NM_020957.4(PCDHB16):c.322G>T (p.Val108Leu)	PCDHB16, PCDHB@ (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281051	NM_020957.4(PCDHB16):c.338C>T (p.Pro113Leu)	PCDHB16, PCDHB@ (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209703	NM_020957.4(PCDHB16):c.353A>T (p.Gln118Leu)	PCDHB16, PCDHB@ (Q118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265817	NM_020957.4(PCDHB16):c.428C>A (p.Pro143Gln)	PCDHB16, PCDHB@ (P143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209704	NM_020957.4(PCDHB16):c.443T>C (p.Leu148Pro)	PCDHB16, PCDHB@ (L148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224379	NM_020957.4(PCDHB16):c.512A>C (p.Lys171Thr)	PCDHB16, PCDHB@ (K171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304849	NM_020957.4(PCDHB16):c.520C>G (p.Pro174Ala)	PCDHB16, PCDHB@ (P174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525571	NM_020957.4(PCDHB16):c.597G>C (p.Glu199Asp)	PCDHB16, PCDHB@ (E199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209705	NM_020957.4(PCDHB16):c.612G>C (p.Glu204Asp)	PCDHB16, PCDHB@ (E204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655820	NM_020957.4(PCDHB16):c.641C>T (p.Ala214Val)	PCDHB16, PCDHB@ (A214V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3209706	NM_020957.4(PCDHB16):c.662C>A (p.Pro221Gln)	PCDHB16, PCDHB@ (P221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209707	NM_020957.4(PCDHB16):c.715G>A (p.Ala239Thr)	PCDHB16, PCDHB@ (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323099	NM_020957.4(PCDHB16):c.719C>T (p.Pro240Leu)	PCDHB16, PCDHB@ (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209708	NM_020957.4(PCDHB16):c.752T>C (p.Ile251Thr)	PCDHB16, PCDHB@ (I251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281409	NM_020957.4(PCDHB16):c.754C>G (p.Pro252Ala)	PCDHB16, PCDHB@ (P252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279516	NM_020957.4(PCDHB16):c.779T>A (p.Leu260Gln)	PCDHB16, PCDHB@ (L260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273940	NM_020957.4(PCDHB16):c.821A>G (p.Asn274Ser)	PCDHB16, PCDHB@ (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304843	NM_020957.4(PCDHB16):c.842T>A (p.Leu281His)	PCDHB16, PCDHB@ (L281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370804	NM_020957.4(PCDHB16):c.901G>C (p.Val301Leu)	PCDHB16, PCDHB@ (V301L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2466065	NM_020957.4(PCDHB16):c.938C>G (p.Thr313Arg)	PCDHB16, PCDHB@ (T313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304850	NM_020957.4(PCDHB16):c.1028A>G (p.Asn343Ser)	PCDHB16, PCDHB@ (N343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304845	NM_020957.4(PCDHB16):c.1045A>G (p.Met349Val)	PCDHB16, PCDHB@ (M349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521159	NM_020957.4(PCDHB16):c.1062C>A (p.Ser354Arg)	PCDHB16, PCDHB@ (S354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556094	NM_020957.4(PCDHB16):c.1086G>T (p.Glu362Asp)	PCDHB16, PCDHB@ (E362D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316919	NM_020957.4(PCDHB16):c.1088T>C (p.Ile363Thr)	PCDHB16, PCDHB@ (I363T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377562	NM_020957.4(PCDHB16):c.1146T>G (p.Ile382Met)	PCDHB16, PCDHB@ (I382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243012	NM_020957.4(PCDHB16):c.1171T>G (p.Phe391Val)	PCDHB16, PCDHB@ (F391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209686	NM_020957.4(PCDHB16):c.1178T>C (p.Leu393Pro)	PCDHB16, PCDHB@ (L393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206756	NM_020957.4(PCDHB16):c.1214C>A (p.Thr405Lys)	PCDHB16, PCDHB@ (T405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655821	NM_020957.4(PCDHB16):c.1251T>C (p.Tyr417=)	PCDHB16, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555752	NM_020957.4(PCDHB16):c.1277T>C (p.Met426Thr)	PCDHB16, PCDHB@ (M426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209687	NM_020957.4(PCDHB16):c.1320G>C (p.Gln440His)	PCDHB16, PCDHB@ (Q440H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209688	NM_020957.4(PCDHB16):c.1321A>G (p.Ile441Val)	PCDHB16, PCDHB@ (I441V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294322	NM_020957.4(PCDHB16):c.1384G>C (p.Glu462Gln)	PCDHB16, PCDHB@ (E462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412119	NM_020957.4(PCDHB16):c.1399G>A (p.Ala467Thr)	PCDHB16, PCDHB@ (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542283	NM_020957.4(PCDHB16):c.1431C>G (p.Asp477Glu)	PCDHB16, PCDHB@ (D477E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209689	NM_020957.4(PCDHB16):c.1460C>A (p.Thr487Asn)	PCDHB16, PCDHB@ (T487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209690	NM_020957.4(PCDHB16):c.1466C>T (p.Ser489Leu)	PCDHB16, PCDHB@ (S489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470151	NM_020957.4(PCDHB16):c.1483G>A (p.Asp495Asn)	PCDHB16, PCDHB@ (D495N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304852	NM_020957.4(PCDHB16):c.1495C>T (p.Pro499Ser)	PCDHB16, PCDHB@ (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286756	NM_020957.4(PCDHB16):c.1516A>G (p.Ile506Val)	PCDHB16, PCDHB@ (I506V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336427	NM_020957.4(PCDHB16):c.1528A>T (p.Asn510Tyr)	PCDHB16, PCDHB@ (N510Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655822	NM_020957.4(PCDHB16):c.1542C>T (p.Phe514=)	PCDHB16, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390137	NM_020957.4(PCDHB16):c.1584G>C (p.Glu528Asp)	PCDHB16, PCDHB@ (E528D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621664	NM_020957.4(PCDHB16):c.1585T>A (p.Phe529Ile)	PCDHB16, PCDHB@ (F529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363957	NM_020957.4(PCDHB16):c.1607G>C (p.Arg536Pro)	PCDHB16, PCDHB@ (R536P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209691	NM_020957.4(PCDHB16):c.1610G>A (p.Gly537Asp)	PCDHB16, PCDHB@ (G537D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268518	NM_020957.4(PCDHB16):c.1610G>C (p.Gly537Ala)	PCDHB16, PCDHB@ (G537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268519	NM_020957.4(PCDHB16):c.1615C>T (p.Pro539Ser)	PCDHB16, PCDHB@ (P539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655823	NM_020957.4(PCDHB16):c.1647G>A (p.Val549=)	PCDHB16, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304844	NM_020957.4(PCDHB16):c.1657G>A (p.Asp553Asn)	PCDHB16, PCDHB@ (D553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209693	NM_020957.4(PCDHB16):c.1681G>C (p.Val561Leu)	PCDHB16, PCDHB@ (V561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209694	NM_020957.4(PCDHB16):c.1760C>G (p.Thr587Ser)	PCDHB16, PCDHB@ (T587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591090	NM_020957.4(PCDHB16):c.1831G>A (p.Glu611Lys)	PCDHB16, PCDHB@ (E611K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555401	NM_020957.4(PCDHB16):c.1849G>T (p.Val617Leu)	PCDHB16, PCDHB@ (V617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304851	NM_020957.4(PCDHB16):c.1856C>T (p.Ala619Val)	PCDHB16, PCDHB@ (A619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471386	NM_020957.4(PCDHB16):c.1894G>A (p.Glu632Lys)	PCDHB16, PCDHB@ (E632K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608049	NM_020957.4(PCDHB16):c.1907C>T (p.Ala636Val)	PCDHB16, PCDHB@ (A636V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209695	NM_020957.4(PCDHB16):c.1952C>G (p.Pro651Arg)	PCDHB16, PCDHB@ (P651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239850	NM_020957.4(PCDHB16):c.1955G>T (p.Arg652Leu)	PCDHB16, PCDHB@ (R652L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225703	NM_020957.4(PCDHB16):c.1993G>A (p.Gly665Ser)	PCDHB16, PCDHB@ (G665S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209696	NM_020957.4(PCDHB16):c.2006C>T (p.Pro669Leu)	PCDHB16, PCDHB@ (P669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209697	NM_020957.4(PCDHB16):c.2009T>A (p.Phe670Tyr)	PCDHB16, PCDHB@ (F670Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304848	NM_020957.4(PCDHB16):c.2014C>A (p.Pro672Thr)	PCDHB16, PCDHB@ (P672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404501	NM_020957.4(PCDHB16):c.2050A>C (p.Asn684His)	PCDHB@, PCDHB16 (N684H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209698	NM_020957.4(PCDHB16):c.2135G>T (p.Arg712Leu)	PCDHB16, PCDHB@ (R712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315125	NM_020957.4(PCDHB16):c.2174G>A (p.Cys725Tyr)	PCDHB16, PCDHB@ (C725Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601727	NM_020957.4(PCDHB16):c.2179A>G (p.Met727Val)	PCDHB16, PCDHB@ (M727V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370952	NM_020957.4(PCDHB16):c.2194T>C (p.Phe732Leu)	PCDHB16, PCDHB@ (F732L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209699	NM_020957.4(PCDHB16):c.2227G>T (p.Gly743Trp)	PCDHB16, PCDHB@ (G743W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209700	NM_020957.4(PCDHB16):c.2228G>T (p.Gly743Val)	PCDHB16, PCDHB@ (G743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209701	NM_020957.4(PCDHB16):c.2257G>C (p.Val753Leu)	PCDHB16, PCDHB@ (V753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209702	NM_020957.4(PCDHB16):c.2273G>A (p.Gly758Asp)	PCDHB16, PCDHB@ (G758D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58791	GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	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	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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