SAP30L[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 2393323	NM_024632.6(SAP30L):c.36A>C (p.Glu12Asp)	LOC129995080, SAP30L (E12D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411146	NM_024632.6(SAP30L):c.40C>A (p.Pro14Thr)	SAP30L (P14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219019	NM_024632.6(SAP30L):c.56C>T (p.Ala19Val)	SAP30L (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255918	NM_024632.6(SAP30L):c.100G>A (p.Asp34Asn)	SAP30L (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316140	NM_024632.6(SAP30L):c.136T>G (p.Ser46Ala)	SAP30L (S46A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217576	NM_024632.6(SAP30L):c.277A>G (p.Ser93Gly)	SAP30L (S93G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540548	NM_024632.6(SAP30L):c.319C>G (p.Pro107Ala)	SAP30L (P107A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387608	NM_024632.6(SAP30L):c.319C>A (p.Pro107Thr)	SAP30L (P107T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496131	NM_024632.6(SAP30L):c.379A>C (p.Lys127Gln)	SAP30L (K81Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328998	NM_024632.6(SAP30L):c.484A>G (p.Ile162Val)	SAP30L (I116V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602367	NM_024632.6(SAP30L):c.527C>T (p.Ser176Leu)	SAP30L (S130L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25