CD5L[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2301487	NM_005894.3(CD5L):c.983G>T (p.Arg328Ile)	CD5L (R328I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400918	NM_005894.3(CD5L):c.913G>A (p.Val305Ile)	CD5L (V305I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466289	NM_005894.3(CD5L):c.877C>T (p.Pro293Ser)	CD5L (P293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530621	NM_005894.3(CD5L):c.799T>G (p.Ser267Ala)	CD5L (S267A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249160	NM_005894.3(CD5L):c.717A>C (p.Glu239Asp)	CD5L (E239D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518869	NM_005894.3(CD5L):c.614A>G (p.Gln205Arg)	CD5L (Q205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620284	NM_005894.3(CD5L):c.612C>G (p.Ser204Arg)	CD5L (S204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303510	NM_005894.3(CD5L):c.571T>C (p.Cys191Arg)	CD5L (C191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280340	NM_005894.3(CD5L):c.514G>T (p.Ala172Ser)	CD5L (A172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234501	NM_005894.3(CD5L):c.449G>T (p.Arg150Leu)	CD5L (R150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228525	NM_005894.3(CD5L):c.325G>C (p.Glu109Gln)	CD5L (E109Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520233	NM_005894.3(CD5L):c.160G>T (p.Asp54Tyr)	CD5L (D54Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335979	NM_005894.3(CD5L):c.137G>C (p.Gly46Ala)	CD5L (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302006	NM_005894.3(CD5L):c.23T>A (p.Ile8Asn)	CD5L (I8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063288	GRCh37/hg19 1q23.1(chr1:157798293-157887020)x1	CD5L	Copy number loss	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 1808801	GRCh37/hg19 1q23.1(chr1:157797962-157887020)x1	CD5L	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565187	GRCh37/hg19 1q23.1(chr1:157701265-157949825)x3	FCRL1, CD5L +1 more	Copy number gain	not provided	GUncertain significance
Select item 565186	GRCh37/hg19 1q23.1(chr1:157347489-157804172)x3	FCRL1, FCRL5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 26