RELL2[gene] - ClinVar

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Items: 27

	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	LOC129995052, LOC129995053 +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	DELE1, DIAPH1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
Select item 2493880	NM_173828.5(RELL2):c.19G>A (p.Asp7Asn)	RELL2 (D7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361657	NM_173828.5(RELL2):c.160C>T (p.Pro54Ser)	LOC129994872, RELL2 (P54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491229	NM_173828.5(RELL2):c.190G>C (p.Asp64His)	RELL2 (D64H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338761	NM_173828.5(RELL2):c.217G>A (p.Glu73Lys)	RELL2 (E73K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314748	NM_173828.5(RELL2):c.334A>G (p.Ser112Gly)	RELL2, FCHSD1 (S112G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294758	NM_173828.5(RELL2):c.434G>A (p.Arg145His)	FCHSD1, RELL2 (R145H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520823	NM_173828.5(RELL2):c.450G>T (p.Lys150Asn)	FCHSD1, RELL2 (K150N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363814	NM_173828.5(RELL2):c.589G>T (p.Gly197Trp)	RELL2, FCHSD1 (G197W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590687	NM_173828.5(RELL2):c.671C>A (p.Pro224His)	FCHSD1, RELL2 (P224H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323765	NM_173828.5(RELL2):c.691G>A (p.Val231Ile)	RELL2, FCHSD1 (V231I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360498	NM_173828.5(RELL2):c.730G>A (p.Asp244Asn)	RELL2, FCHSD1 (D244N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456343	NM_173828.5(RELL2):c.775T>C (p.Ser259Pro)	FCHSD1, RELL2 (S259P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	APBB3, APC +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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 27