ClinVar for Gene (Select 56132) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304863	NM_018937.5(PCDHB3):c.1264A>G (p.Thr422Ala)	PCDHB3, PCDHB@ (T422A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304862	NM_018937.5(PCDHB3):c.2248C>A (p.Gln750Lys)	PCDHB3, PCDHB@ (Q750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304861	NM_018937.5(PCDHB3):c.1297A>C (p.Thr433Pro)	PCDHB3, PCDHB@ (T433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304860	NM_018937.5(PCDHB3):c.1432A>G (p.Arg478Gly)	PCDHB3, PCDHB@ (R478G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304859	NM_018937.5(PCDHB3):c.1250A>G (p.Tyr417Cys)	PCDHB3, PCDHB@ (Y417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304858	NM_018937.5(PCDHB3):c.337C>A (p.Pro113Thr)	PCDHB3, PCDHB@ (P113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209733	NM_018937.5(PCDHB3):c.349G>A (p.Val117Ile)	PCDHB3, PCDHB@ (V117I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209732	NM_018937.5(PCDHB3):c.2387G>C (p.Ser796Thr)	PCDHB3, PCDHB@ (S796T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209731	NM_018937.5(PCDHB3):c.2222G>T (p.Gly741Val)	PCDHB3, PCDHB@ (G741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209730	NM_018937.5(PCDHB3):c.2192C>G (p.Pro731Arg)	PCDHB3, PCDHB@ (P731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209729	NM_018937.5(PCDHB3):c.2124C>G (p.Phe708Leu)	PCDHB3, PCDHB@ (F708L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209728	NM_018937.5(PCDHB3):c.2104C>G (p.Leu702Val)	PCDHB3, PCDHB@ (L702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209727	NM_018937.5(PCDHB3):c.1811A>C (p.Tyr604Ser)	PCDHB3, PCDHB@ (Y604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209726	NM_018937.5(PCDHB3):c.1715G>A (p.Cys572Tyr)	PCDHB3, PCDHB@ (C572Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209725	NM_018937.5(PCDHB3):c.1158G>T (p.Glu386Asp)	PCDHB3, PCDHB@ (E386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209724	NM_018937.5(PCDHB3):c.1093C>G (p.Leu365Val)	PCDHB3, PCDHB@ (L365V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623204	NM_018937.5(PCDHB3):c.2288A>G (p.Glu763Gly)	PCDHB3, PCDHB@ (E763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620166	NM_018937.5(PCDHB3):c.1726G>A (p.Val576Met)	PCDHB3, PCDHB@ (V576M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590374	NM_018937.5(PCDHB3):c.2134C>T (p.Arg712Trp)	PCDHB3, PCDHB@ (R712W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547681	NM_018937.5(PCDHB3):c.613C>A (p.Gln205Lys)	PCDHB3, PCDHB@ (Q205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527596	NM_018937.5(PCDHB3):c.2164G>A (p.Val722Met)	PCDHB3, PCDHB@ (V722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494130	NM_018937.5(PCDHB3):c.160C>G (p.Leu54Val)	PCDHB3, PCDHB@ (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454514	NM_018937.5(PCDHB3):c.1577C>A (p.Ala526Glu)	PCDHB3, PCDHB@ (A526E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391640	NM_018937.5(PCDHB3):c.865C>A (p.Arg289Ser)	PCDHB3, PCDHB@ (R289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387413	NM_018937.5(PCDHB3):c.2257G>T (p.Val753Leu)	PCDHB3, PCDHB@ (V753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385059	NM_018937.5(PCDHB3):c.2228G>C (p.Gly743Ala)	PCDHB3, PCDHB@ (G743A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381165	NM_018937.5(PCDHB3):c.1643G>T (p.Arg548Leu)	PCDHB3, PCDHB@ (R548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381122	NM_018937.5(PCDHB3):c.1315G>A (p.Val439Met)	PCDHB3, PCDHB@ (V439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358287	NM_018937.5(PCDHB3):c.1411G>C (p.Gly471Arg)	PCDHB3, PCDHB@ (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357293	NM_018937.5(PCDHB3):c.1708G>A (p.Ala570Thr)	PCDHB3, PCDHB@ (A570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327863	NM_018937.5(PCDHB3):c.1382G>C (p.Arg461Pro)	PCDHB3, PCDHB@ (R461P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320962	NM_018937.5(PCDHB3):c.1648C>G (p.Leu550Val)	PCDHB3, PCDHB@ (L550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310099	NM_018937.5(PCDHB3):c.2182C>T (p.Pro728Ser)	PCDHB3, PCDHB@ (P728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309488	NM_018937.5(PCDHB3):c.2387G>T (p.Ser796Ile)	PCDHB3, PCDHB@ (S796I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306753	NM_018937.5(PCDHB3):c.1595G>T (p.Gly532Val)	PCDHB3, PCDHB@ (G532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295247	NM_018937.5(PCDHB3):c.1532G>C (p.Gly511Ala)	PCDHB3, PCDHB@ (G511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294681	NM_018937.5(PCDHB3):c.2068C>G (p.Leu690Val)	PCDHB3, PCDHB@ (L690V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282279	NM_018937.5(PCDHB3):c.73C>G (p.Leu25Val)	PCDHB3, PCDHB@ (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276444	NM_018937.5(PCDHB3):c.1100T>A (p.Val367Asp)	PCDHB3, PCDHB@ (V367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271133	NM_018937.5(PCDHB3):c.823G>A (p.Gly275Arg)	PCDHB3, PCDHB@ (G275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263452	NM_018937.5(PCDHB3):c.877C>G (p.Gln293Glu)	PCDHB3, PCDHB@ (Q293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257537	NM_018937.5(PCDHB3):c.376G>A (p.Val126Ile)	PCDHB3, PCDHB@ (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252824	NM_018937.5(PCDHB3):c.1178T>C (p.Leu393Pro)	PCDHB3, PCDHB@ (L393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238713	NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu)	PCDHB3, PCDHB@ (F281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233955	NM_018937.5(PCDHB3):c.1883G>C (p.Arg628Thr)	PCDHB3, PCDHB@ (R628T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215736	NM_018937.5(PCDHB3):c.662C>T (p.Pro221Leu)	PCDHB3, PCDHB@ (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212947	NM_018937.5(PCDHB3):c.1998C>G (p.Phe666Leu)	PCDHB3, PCDHB@ (F666L)	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	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 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

ClinVar

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Links from Gene

Items: 66