PCDHB13[gene] - ClinVar

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Items: 83

	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 2327739	NM_018933.4(PCDHB13):c.140C>G (p.Thr47Ser)	PCDHB13, PCDHB@ (T47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209624	NM_018933.4(PCDHB13):c.143A>G (p.Asn48Ser)	PCDHB13, PCDHB@ (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209627	NM_018933.4(PCDHB13):c.164T>C (p.Leu55Pro)	PCDHB13, PCDHB@ (L55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348270	NM_018933.4(PCDHB13):c.216C>G (p.Asn72Lys)	PCDHB13, PCDHB@ (N72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209633	NM_018933.4(PCDHB13):c.283G>C (p.Asp95His)	PCDHB13, PCDHB@ (D95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245145	NM_018933.4(PCDHB13):c.308G>A (p.Cys103Tyr)	PCDHB13, PCDHB@ (C103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345715	NM_018933.4(PCDHB13):c.310G>A (p.Val104Met)	PCDHB13, PCDHB@ (V104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609199	NM_018933.4(PCDHB13):c.389A>G (p.His130Arg)	PCDHB13, PCDHB@ (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209634	NM_018933.4(PCDHB13):c.407A>G (p.Asp136Gly)	PCDHB13, PCDHB@ (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295077	NM_018933.4(PCDHB13):c.520A>G (p.Ser174Gly)	PCDHB13, PCDHB@ (S174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604118	NM_018933.4(PCDHB13):c.596A>C (p.Lys199Thr)	PCDHB13, PCDHB@ (K199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290581	NM_018933.4(PCDHB13):c.673G>C (p.Gly225Arg)	PCDHB13, PCDHB@ (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405641	NM_018933.4(PCDHB13):c.694G>C (p.Glu232Gln)	PCDHB13, PCDHB@ (E232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209636	NM_018933.4(PCDHB13):c.703G>A (p.Asp235Asn)	PCDHB13, PCDHB@ (D235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516129	NM_018933.4(PCDHB13):c.721C>T (p.Pro241Ser)	PCDHB13, PCDHB@ (P241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209637	NM_018933.4(PCDHB13):c.743A>G (p.Tyr248Cys)	PCDHB13, PCDHB@ (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244392	NM_018933.4(PCDHB13):c.746G>C (p.Arg249Thr)	PCDHB13, PCDHB@ (R249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338604	NM_018933.4(PCDHB13):c.749T>C (p.Val250Ala)	PCDHB13, PCDHB@ (V250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655833	NM_018933.4(PCDHB13):c.771G>A (p.Pro257=)	PCDHB13, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209638	NM_018933.4(PCDHB13):c.807T>G (p.Asp269Glu)	PCDHB13, PCDHB@ (D269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531860	NM_018933.4(PCDHB13):c.947A>T (p.Tyr316Phe)	PCDHB13, PCDHB@ (Y316F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520001	NM_018933.4(PCDHB13):c.1012G>C (p.Val338Leu)	PCDHB13, PCDHB@ (V338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304818	NM_018933.4(PCDHB13):c.1013T>C (p.Val338Ala)	PCDHB13, PCDHB@ (V338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351253	NM_018933.4(PCDHB13):c.1028A>G (p.Asp343Gly)	PCDHB13, PCDHB@ (D343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361035	NM_018933.4(PCDHB13):c.1081G>A (p.Ala361Thr)	PCDHB13, PCDHB@ (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544471	NM_018933.4(PCDHB13):c.1147A>T (p.Ser383Cys)	PCDHB13, PCDHB@ (S383C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209622	NM_018933.4(PCDHB13):c.1204A>G (p.Thr402Ala)	PCDHB13, PCDHB@ (T402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485044	NM_018933.4(PCDHB13):c.1280G>A (p.Gly427Glu)	PCDHB13, PCDHB@ (G427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516697	NM_018933.4(PCDHB13):c.1327G>T (p.Asp443Tyr)	PCDHB13, PCDHB@ (D443Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304814	NM_018933.4(PCDHB13):c.1377C>G (p.Phe459Leu)	PCDHB13, PCDHB@ (F459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590175	NM_018933.4(PCDHB13):c.1378G>C (p.Val460Leu)	PCDHB13, PCDHB@ (V460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209623	NM_018933.4(PCDHB13):c.1416C>G (p.Ser472Arg)	PCDHB13, PCDHB@ (S472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484533	NM_018933.4(PCDHB13):c.1423G>T (p.Ala475Ser)	PCDHB13, PCDHB@ (A475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620725	NM_018933.4(PCDHB13):c.1447A>G (p.Asn483Asp)	PCDHB13, PCDHB@ (N483D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402317	NM_018933.4(PCDHB13):c.1460C>T (p.Thr487Ile)	PCDHB13, PCDHB@ (T487I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265557	NM_018933.4(PCDHB13):c.1474C>A (p.Pro492Thr)	PCDHB13, PCDHB@ (P492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304816	NM_018933.4(PCDHB13):c.1523C>T (p.Ala508Val)	PCDHB13, PCDHB@ (A508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460448	NM_018933.4(PCDHB13):c.1531G>A (p.Gly511Ser)	PCDHB13, PCDHB@ (G511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325550	NM_018933.4(PCDHB13):c.1556T>C (p.Leu519Pro)	PCDHB13, PCDHB@ (L519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209625	NM_018933.4(PCDHB13):c.1576G>A (p.Gly526Arg)	PCDHB13, PCDHB@ (G526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396124	NM_018933.4(PCDHB13):c.1594G>A (p.Gly532Ser)	PCDHB13, PCDHB@ (G532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209626	NM_018933.4(PCDHB13):c.1608C>G (p.His536Gln)	PCDHB13, PCDHB@ (H536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309922	NM_018933.4(PCDHB13):c.1630G>A (p.Glu544Lys)	PCDHB13, PCDHB@ (E544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317154	NM_018933.4(PCDHB13):c.1717A>C (p.Thr573Pro)	PCDHB13, PCDHB@ (T573P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332808	NM_018933.4(PCDHB13):c.1723C>A (p.Leu575Met)	PCDHB13, PCDHB@ (L575M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601875	NM_018933.4(PCDHB13):c.1748G>T (p.Gly583Val)	PCDHB13, PCDHB@ (G583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539555	NM_018933.4(PCDHB13):c.1753C>G (p.Leu585Val)	PCDHB13, PCDHB@ (L585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378244	NM_018933.4(PCDHB13):c.1868A>T (p.Glu623Val)	PCDHB13, PCDHB@ (E623V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304813	NM_018933.4(PCDHB13):c.1873C>A (p.Arg625Ser)	PCDHB13, PCDHB@ (R625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539892	NM_018933.4(PCDHB13):c.1884G>T (p.Arg628Ser)	PCDHB13, PCDHB@ (R628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350757	NM_018933.4(PCDHB13):c.1914C>G (p.His638Gln)	PCDHB13, PCDHB@ (H638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393971	NM_018933.4(PCDHB13):c.1947G>T (p.Glu649Asp)	PCDHB13, PCDHB@ (E649D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379345	NM_018933.4(PCDHB13):c.1954C>T (p.Arg652Cys)	PCDHB13, PCDHB@ (R652C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223594	NM_018933.4(PCDHB13):c.1977C>A (p.His659Gln)	PCDHB13, PCDHB@ (H659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209629	NM_018933.4(PCDHB13):c.1988T>C (p.Val663Ala)	PCDHB13, PCDHB@ (V663A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393972	NM_018933.4(PCDHB13):c.2033C>T (p.Pro678Leu)	PCDHB13, PCDHB@ (P678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304815	NM_018933.4(PCDHB13):c.2053T>A (p.Leu685Met)	PCDHB13, PCDHB@ (L685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225430	NM_018933.4(PCDHB13):c.2135G>T (p.Arg712Leu)	PCDHB13, PCDHB@ (R712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304817	NM_018933.4(PCDHB13):c.2189G>T (p.Gly730Val)	PCDHB13, PCDHB@ (G730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614879	NM_018933.4(PCDHB13):c.2212G>T (p.Asp738Tyr)	PCDHB13, PCDHB@ (D738Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209631	NM_018933.4(PCDHB13):c.2233C>G (p.Leu745Val)	PCDHB13, PCDHB@ (L745V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474675	NM_018933.4(PCDHB13):c.2243G>T (p.Ser748Ile)	PCDHB13, PCDHB@ (S748I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209632	NM_018933.4(PCDHB13):c.2257G>A (p.Val753Met)	PCDHB13, PCDHB@ (V753M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304812	NM_018933.4(PCDHB13):c.2317A>T (p.Asn773Tyr)	PCDHB13, PCDHB@ (N773Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213042	NM_018933.4(PCDHB13):c.2323C>A (p.Pro775Thr)	PCDHB13, PCDHB@ (P775T)	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	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
Select item 394093	GRCh37/hg19 5q31.3(chr5:140581626-140593602)x3	PCDHB11, PCDHB12 +2 more	Copy number gain	See cases	GBenign

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Items: 83