ClinVar for Gene (Select 56127) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304913	NM_019119.5(PCDHB9):c.824C>A (p.Ala275Glu)	PCDHB9, PCDHB@ (A275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304912	NM_019119.5(PCDHB9):c.711C>A (p.Asp237Glu)	PCDHB9, PCDHB@ (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209827	NM_019119.5(PCDHB9):c.896G>A (p.Gly299Glu)	PCDHB9, PCDHB@ (G299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209825	NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu)	PCDHB9, PCDHB@ (R229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209824	NM_019119.5(PCDHB9):c.543A>T (p.Lys181Asn)	PCDHB9, PCDHB@ (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209823	NM_019119.5(PCDHB9):c.451G>C (p.Ala151Pro)	PCDHB9, PCDHB@ (A151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655828	NM_019119.5(PCDHB9):c.1647A>G (p.Val549=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655827	NM_019119.5(PCDHB9):c.1200T>C (p.Phe400=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655826	NM_019119.5(PCDHB9):c.858A>G (p.Glu286=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655825	NM_019119.5(PCDHB9):c.690T>C (p.Ile230=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655824	NM_019119.5(PCDHB9):c.585G>T (p.Val195=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606790	NM_019119.5(PCDHB9):c.641C>T (p.Ala214Val)	PCDHB9, PCDHB@ (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591458	NM_019119.5(PCDHB9):c.325T>A (p.Leu109Ile)	PCDHB9, PCDHB@ (L109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541255	NM_019119.5(PCDHB9):c.168G>T (p.Glu56Asp)	PCDHB9, PCDHB@ (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525422	NM_019119.5(PCDHB9):c.904T>A (p.Phe302Ile)	PCDHB9, PCDHB@ (F302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512048	NM_019119.5(PCDHB9):c.617A>G (p.Glu206Gly)	PCDHB9, PCDHB@ (E206G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480490	NM_019119.5(PCDHB9):c.496A>G (p.Ser166Gly)	PCDHB9, PCDHB@ (S166G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462944	NM_019119.5(PCDHB9):c.181G>A (p.Ala61Thr)	PCDHB9, PCDHB@ (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403179	NM_019119.5(PCDHB9):c.543A>C (p.Lys181Asn)	PCDHB9, PCDHB@ (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391989	NM_019119.5(PCDHB9):c.2182C>A (p.Pro728Thr)	PCDHB9, PCDHB@ (P728T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370613	NM_019119.5(PCDHB9):c.886C>T (p.Pro296Ser)	PCDHB9, PCDHB@ (P296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352686	NM_019119.5(PCDHB9):c.10A>G (p.Arg4Gly)	PCDHB9, PCDHB@ (R4G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339057	NM_019119.5(PCDHB9):c.77C>T (p.Ala26Val)	PCDHB9, PCDHB@ (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334143	NM_019119.5(PCDHB9):c.686G>A (p.Arg229His)	PCDHB9, PCDHB@ (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316752	NM_019119.5(PCDHB9):c.253C>T (p.Leu85Phe)	PCDHB9, PCDHB@ (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316496	NM_019119.5(PCDHB9):c.685C>G (p.Arg229Gly)	PCDHB9, PCDHB@ (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305814	NM_019119.5(PCDHB9):c.830T>C (p.Val277Ala)	PCDHB9, PCDHB@ (V277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302772	NM_019119.5(PCDHB9):c.456T>G (p.Phe152Leu)	PCDHB9, PCDHB@ (F152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300522	NM_019119.5(PCDHB9):c.421A>G (p.Lys141Glu)	PCDHB9, PCDHB@ (K141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272552	NM_019119.5(PCDHB9):c.2195T>A (p.Phe732Tyr)	PCDHB9, PCDHB@ (F732Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270168	NM_019119.5(PCDHB9):c.746C>A (p.Thr249Asn)	PCDHB9, PCDHB@ (T249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249868	NM_019119.5(PCDHB9):c.604C>G (p.Arg202Gly)	PCDHB9, PCDHB@ (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238229	NM_019119.5(PCDHB9):c.887C>T (p.Pro296Leu)	PCDHB9, PCDHB@ (P296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235401	NM_019119.5(PCDHB9):c.371G>A (p.Arg124Lys)	PCDHB9, PCDHB@ (R124K)	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	IGIP, IK +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	AFF4, C5orf46 +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 394363	GRCh37/hg19 5q31.3(chr5:140570132-140573268)x1	PCDHB10, PCDHB9 +1 more	Copy number loss	See cases	GUncertain significance
Select item 393961	GRCh37/hg19 5q31.3(chr5:140559899-140580412)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GLikely benign
Select item 393725	GRCh37/hg19 5q31.3(chr5:140568025-140572033)x1	PCDHB10, PCDHB9 +1 more	Copy number loss	See cases	GUncertain significance
Select item 393724	GRCh37/hg19 5q31.3(chr5:140568025-140572033)x3	PCDHB10, PCDHB9 +1 more	Copy number gain	See cases	GBenign
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	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 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 146633	GRCh38/hg38 5q31.3(chr5:141190858-141192504)x1	PCDHB10, PCDHB9 +1 more	Copy number loss	See cases	GBenign
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

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Links from Gene

Items: 57