ClinVar for Gene (Select 56133) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209723	NM_018936.4(PCDHB2):c.472C>A (p.Arg158Ser)	PCDHB2, PCDHB@ (R158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209722	NM_018936.4(PCDHB2):c.349C>G (p.Gln117Glu)	PCDHB2, PCDHB@ (Q117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209721	NM_018936.4(PCDHB2):c.283G>A (p.Glu95Lys)	PCDHB2, PCDHB@ (E95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209720	NM_018936.4(PCDHB2):c.2356G>A (p.Glu786Lys)	PCDHB2, PCDHB@ (E786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209719	NM_018936.4(PCDHB2):c.2141G>T (p.Arg714Leu)	PCDHB2, PCDHB@ (R714L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209717	NM_018936.4(PCDHB2):c.196G>A (p.Ala66Thr)	PCDHB2, PCDHB@ (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209716	NM_018936.4(PCDHB2):c.1868A>G (p.Asn623Ser)	PCDHB2, PCDHB@ (N623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209715	NM_018936.4(PCDHB2):c.1851C>A (p.Phe617Leu)	PCDHB2, PCDHB@ (F617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209714	NM_018936.4(PCDHB2):c.1763T>C (p.Val588Ala)	PCDHB2, PCDHB@ (V588A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209713	NM_018936.4(PCDHB2):c.1616G>T (p.Gly539Val)	PCDHB2, PCDHB@ (G539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209712	NM_018936.4(PCDHB2):c.1609G>T (p.Asp537Tyr)	PCDHB2, PCDHB@ (D537Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209711	NM_018936.4(PCDHB2):c.1210A>C (p.Thr404Pro)	PCDHB2, PCDHB@ (T404P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209709	NM_018936.4(PCDHB2):c.1181T>A (p.Phe394Tyr)	PCDHB2, PCDHB@ (F394Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655806	NM_018936.4(PCDHB2):c.1909G>A (p.Ala637Thr)	PCDHB2, PCDHB@ (A637T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2613097	NM_018936.4(PCDHB2):c.1913C>T (p.Ala638Val)	PCDHB2, PCDHB@ (A638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589404	NM_018936.4(PCDHB2):c.1040C>T (p.Pro347Leu)	PCDHB2, PCDHB@ (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545157	NM_018936.4(PCDHB2):c.2212A>C (p.Met738Leu)	PCDHB2, PCDHB@ (M738L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545146	NM_018936.4(PCDHB2):c.2211G>T (p.Gln737His)	PCDHB2, PCDHB@ (Q737H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542169	NM_018936.4(PCDHB2):c.467T>C (p.Ile156Thr)	PCDHB2, PCDHB@ (I156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520026	NM_018936.4(PCDHB2):c.1507G>T (p.Ala503Ser)	PCDHB2, PCDHB@ (A503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495904	NM_018936.4(PCDHB2):c.2061G>C (p.Leu687Phe)	PCDHB2, PCDHB@ (L687F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495903	NM_018936.4(PCDHB2):c.2060T>C (p.Leu687Ser)	PCDHB2, PCDHB@ (L687S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495859	NM_018936.4(PCDHB2):c.157G>A (p.Asp53Asn)	PCDHB2, PCDHB@ (D53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475358	NM_018936.4(PCDHB2):c.1991T>C (p.Leu664Pro)	PCDHB2, PCDHB@ (L664P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458295	NM_018936.4(PCDHB2):c.788T>C (p.Val263Ala)	PCDHB2, PCDHB@ (V263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411137	NM_018936.4(PCDHB2):c.658G>A (p.Gly220Arg)	PCDHB2, PCDHB@ (G220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407344	NM_018936.4(PCDHB2):c.79C>G (p.Gln27Glu)	PCDHB2, PCDHB@ (Q27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390234	NM_018936.4(PCDHB2):c.334C>G (p.Leu112Val)	PCDHB2, PCDHB@ (L112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377485	NM_018936.4(PCDHB2):c.2269C>G (p.Leu757Val)	PCDHB2, PCDHB@ (L757V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370498	NM_018936.4(PCDHB2):c.462C>G (p.Phe154Leu)	PCDHB2, PCDHB@ (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359298	NM_018936.4(PCDHB2):c.1541A>G (p.His514Arg)	PCDHB2, PCDHB@ (H514R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358616	NM_018936.4(PCDHB2):c.1064T>C (p.Ile355Thr)	PCDHB2, PCDHB@ (I355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317196	NM_018936.4(PCDHB2):c.1003G>C (p.Val335Leu)	PCDHB2, PCDHB@ (V335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313484	NM_018936.4(PCDHB2):c.1383C>G (p.Phe461Leu)	PCDHB2, PCDHB@ (F461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287007	NM_018936.4(PCDHB2):c.1537G>A (p.Gly513Ser)	PCDHB2, PCDHB@ (G513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285659	NM_018936.4(PCDHB2):c.1022A>T (p.Asp341Val)	PCDHB2, PCDHB@ (D341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281883	NM_018936.4(PCDHB2):c.1736C>G (p.Pro579Arg)	PCDHB2, PCDHB@ (P579R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281740	NM_018936.4(PCDHB2):c.1322T>A (p.Val441Glu)	PCDHB2, PCDHB@ (V441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265558	NM_018936.4(PCDHB2):c.2191G>A (p.Glu731Lys)	PCDHB2, PCDHB@ (E731K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238193	NM_018936.4(PCDHB2):c.1141G>C (p.Gly381Arg)	PCDHB2, PCDHB@ (G381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237285	NM_018936.4(PCDHB2):c.611G>T (p.Arg204Leu)	PCDHB2, PCDHB@ (R204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224796	NM_018936.4(PCDHB2):c.1031A>G (p.Asp344Gly)	PCDHB2, PCDHB@ (D344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212448	NM_018936.4(PCDHB2):c.1327G>A (p.Val443Ile)	PCDHB2, PCDHB@ (V443I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211549	NM_018936.4(PCDHB2):c.1384G>C (p.Val462Leu)	PCDHB2, PCDHB@ (V462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210729	NM_018936.4(PCDHB2):c.1920G>C (p.Gln640His)	PCDHB2, PCDHB@ (Q640H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210044	NM_018936.4(PCDHB2):c.1778C>T (p.Ala593Val)	PCDHB2, PCDHB@ (A593V)	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 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	LRRTM2, MATR3 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 782454	NM_018936.4(PCDHB2):c.1320C>A (p.Thr440=)	PCDHB2, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769659	NM_018936.4(PCDHB2):c.1606G>A (p.Ala536Thr)	PCDHB2, PCDHB@ (A536T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769309	NM_018936.4(PCDHB2):c.2280C>A (p.Gly760=)	PCDHB2, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769308	NM_018936.4(PCDHB2):c.2279G>A (p.Gly760Asp)	PCDHB2, PCDHB@ (G760D)	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	AFF4, CCDC69 +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 394026	GRCh37/hg19 5q31.3(chr5:140475917-140482208)x3	PCDHB2, PCDHB3 +1 more	Copy number gain	See cases	GLikely benign
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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69