CYB5RL[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 2349881	NM_001031672.4(CYB5RL):c.886A>G (p.Lys296Glu)	CYB5RL (K217E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079293	NM_001031672.4(CYB5RL):c.872C>T (p.Ser291Leu)	CYB5RL (S212L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079292	NM_001031672.4(CYB5RL):c.721C>G (p.Arg241Gly)	CYB5RL (R162G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274388	NM_001031672.4(CYB5RL):c.647T>G (p.Val216Gly)	CYB5RL (V216G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311097	NM_001031672.4(CYB5RL):c.628G>A (p.Glu210Lys)	CYB5RL (E131K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548848	NM_001031672.4(CYB5RL):c.574G>A (p.Gly192Ser)	CYB5RL (G113S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303400	NM_001031672.4(CYB5RL):c.527A>G (p.Tyr176Cys)	CYB5RL (Y97C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274877	NM_001031672.4(CYB5RL):c.461G>C (p.Arg154Pro)	CYB5RL (R6P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623644	NM_001031672.4(CYB5RL):c.394A>G (p.Ser132Gly)	CYB5RL (S132G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2274833	NM_001031672.4(CYB5RL):c.266C>G (p.Thr89Ser)	CYB5RL (T89S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395304	NM_001031672.4(CYB5RL):c.88G>A (p.Gly30Ser)	CYB5RL (G30S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 25