ClinVar for Gene (Select 56125) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655831	NM_018931.3(PCDHB11):c.1596C>A (p.Gly532=)	PCDHB11, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655830	NM_018931.3(PCDHB11):c.1416T>C (p.Ser472=)	PCDHB@, PCDHB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623933	NM_018931.3(PCDHB11):c.2214C>G (p.Asp738Glu)	PCDHB11, PCDHB@ (D738E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620724	NM_018931.3(PCDHB11):c.2165T>C (p.Val722Ala)	PCDHB11, PCDHB@ (V722A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610417	NM_018931.3(PCDHB11):c.703A>G (p.Ile235Val)	PCDHB11, PCDHB@ (I235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2607246	NM_018931.3(PCDHB11):c.1151C>A (p.Ser384Tyr)	PCDHB11, PCDHB@ (S384Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606329	NM_018931.3(PCDHB11):c.1001T>C (p.Ile334Thr)	PCDHB11, PCDHB@ (I334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598240	NM_018931.3(PCDHB11):c.659C>T (p.Pro220Leu)	PCDHB11, PCDHB@ (P220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569836	NM_018931.3(PCDHB11):c.2098C>T (p.Leu700Phe)	PCDHB11, PCDHB@ (L700F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559365	NM_018931.3(PCDHB11):c.1664A>G (p.Asn555Ser)	PCDHB11, PCDHB@ (N555S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554346	NM_018931.3(PCDHB11):c.1893C>A (p.Ser631Arg)	PCDHB11, PCDHB@ (S631R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541767	NM_018931.3(PCDHB11):c.1829C>T (p.Thr610Met)	PCDHB11, PCDHB@ (T610M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532550	NM_018931.3(PCDHB11):c.1069C>T (p.Pro357Ser)	PCDHB11, PCDHB@ (P357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520943	NM_018931.3(PCDHB11):c.1346C>G (p.Pro449Arg)	PCDHB11, PCDHB@ (P449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520252	NM_018931.3(PCDHB11):c.241A>G (p.Thr81Ala)	PCDHB11, PCDHB@ (T81A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519039	NM_018931.3(PCDHB11):c.1680C>G (p.Phe560Leu)	PCDHB11, PCDHB@ (F560L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509401	NM_018931.3(PCDHB11):c.900A>C (p.Glu300Asp)	PCDHB11, PCDHB@ (E300D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507605	NM_018931.3(PCDHB11):c.911G>C (p.Arg304Thr)	PCDHB11, PCDHB@ (R304T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2495263	NM_018931.3(PCDHB11):c.1318T>G (p.Leu440Val)	PCDHB11, PCDHB@ (L440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486951	NM_018931.3(PCDHB11):c.1329C>A (p.Asp443Glu)	PCDHB11, PCDHB@ (D443E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480309	NM_018931.3(PCDHB11):c.49C>G (p.Leu17Val)	PCDHB11, PCDHB@ (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478504	NM_018931.3(PCDHB11):c.2276C>T (p.Ser759Phe)	PCDHB11, PCDHB@ (S759F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465433	NM_018931.3(PCDHB11):c.203C>T (p.Ser68Phe)	PCDHB11, PCDHB@ (S68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464033	NM_018931.3(PCDHB11):c.1378G>A (p.Val460Ile)	PCDHB11, PCDHB@ (V460I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463484	NM_018931.3(PCDHB11):c.2327C>A (p.Ala776Glu)	PCDHB11, PCDHB@ (A776E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462597	NM_018931.3(PCDHB11):c.1139G>T (p.Arg380Ile)	PCDHB11, PCDHB@ (R380I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455606	NM_018931.3(PCDHB11):c.227A>G (p.Gln76Arg)	PCDHB11, PCDHB@ (Q76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408832	NM_018931.3(PCDHB11):c.1264A>G (p.Thr422Ala)	PCDHB11, PCDHB@ (T422A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403421	NM_018931.3(PCDHB11):c.104T>C (p.Val35Ala)	PCDHB@, PCDHB11 (V35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388303	NM_018931.3(PCDHB11):c.178T>C (p.Ser60Pro)	PCDHB11, PCDHB@ (S60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359817	NM_018931.3(PCDHB11):c.1936G>A (p.Asp646Asn)	PCDHB@, PCDHB11 (D646N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359642	NM_018931.3(PCDHB11):c.1705T>C (p.Ser569Pro)	PCDHB@, PCDHB11 (S569P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355550	NM_018931.3(PCDHB11):c.167T>A (p.Val56Glu)	PCDHB11, PCDHB@ (V56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348383	NM_018931.3(PCDHB11):c.1208T>C (p.Leu403Ser)	PCDHB@, PCDHB11 (L403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346087	NM_018931.3(PCDHB11):c.919C>G (p.Leu307Val)	PCDHB11, PCDHB@ (L307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340890	NM_018931.3(PCDHB11):c.2212G>T (p.Asp738Tyr)	PCDHB@, PCDHB11 (D738Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337616	NM_018931.3(PCDHB11):c.470C>T (p.Ala157Val)	PCDHB@, PCDHB11 (A157V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331229	NM_018931.3(PCDHB11):c.2134C>T (p.Arg712Trp)	PCDHB@, PCDHB11 (R712W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297479	NM_018931.3(PCDHB11):c.2215G>A (p.Val739Met)	PCDHB@, PCDHB11 (V739M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295584	NM_018931.3(PCDHB11):c.1702G>C (p.Gly568Arg)	PCDHB11, PCDHB@ (G568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289694	NM_018931.3(PCDHB11):c.1478C>T (p.Pro493Leu)	PCDHB@, PCDHB11 (P493L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287127	NM_018931.3(PCDHB11):c.1222C>T (p.Pro408Ser)	PCDHB11, PCDHB@ (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285832	NM_018931.3(PCDHB11):c.547A>G (p.Arg183Gly)	PCDHB11, PCDHB@ (R183G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269868	NM_018931.3(PCDHB11):c.866G>T (p.Arg289Leu)	PCDHB@, PCDHB11 (R289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266254	NM_018931.3(PCDHB11):c.164A>T (p.Lys55Met)	PCDHB11, PCDHB@ (K55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263392	NM_018931.3(PCDHB11):c.235A>G (p.Ile79Val)	PCDHB11, PCDHB@ (I79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257277	NM_018931.3(PCDHB11):c.1588C>T (p.Arg530Cys)	PCDHB11, PCDHB@ (R530C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255642	NM_018931.3(PCDHB11):c.2162C>G (p.Ser721Trp)	PCDHB11, PCDHB@ (S721W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253388	NM_018931.3(PCDHB11):c.2147G>A (p.Arg716Lys)	PCDHB@, PCDHB11 (R716K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251051	NM_018931.3(PCDHB11):c.887A>G (p.Gln296Arg)	PCDHB@, PCDHB11 (Q296R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245873	NM_018931.3(PCDHB11):c.2204A>G (p.His735Arg)	PCDHB11, PCDHB@ (H735R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241938	NM_018931.3(PCDHB11):c.1355C>T (p.Thr452Ile)	PCDHB@, PCDHB11 (T452I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240980	NM_018931.3(PCDHB11):c.389C>T (p.Ser130Phe)	PCDHB11, PCDHB@ (S130F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237074	NM_018931.3(PCDHB11):c.1825G>C (p.Ala609Pro)	PCDHB11, PCDHB@ (A609P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236122	NM_018931.3(PCDHB11):c.1566G>T (p.Glu522Asp)	PCDHB@, PCDHB11 (E522D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235997	NM_018931.3(PCDHB11):c.1583A>G (p.Asp528Gly)	PCDHB11, PCDHB@ (D528G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231081	NM_018931.3(PCDHB11):c.566G>A (p.Arg189Lys)	PCDHB@, PCDHB11 (R189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223665	NM_018931.3(PCDHB11):c.341C>A (p.Thr114Lys)	PCDHB11, PCDHB@ (T114K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219959	NM_018931.3(PCDHB11):c.1670A>G (p.Asn557Ser)	PCDHB@, PCDHB11 (N557S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219290	NM_018931.3(PCDHB11):c.2015C>T (p.Pro672Leu)	PCDHB@, PCDHB11 (P672L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212946	NM_018931.3(PCDHB11):c.1431C>G (p.Asp477Glu)	PCDHB@, PCDHB11 (D477E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	HSPA9, IGIP +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 768038	NM_018931.3(PCDHB11):c.1584C>G (p.Asp528Glu)	PCDHB11, PCDHB@ (D528E)	Single nucleotide variant (missense variant)	not provided	GBenign
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	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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 395109	GRCh37/hg19 5q31.3(chr5:140581626-140589370)x3	PCDHB11, PCDHB12 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +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
Select item 393961	GRCh37/hg19 5q31.3(chr5:140559899-140580412)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GLikely benign
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	DELE1, DIAPH1 +123 more	Copy number loss	See cases	GUncertain significance
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 58791	GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GUncertain significance
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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83