SLC25A48[gene] - ClinVar

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Items: 23

	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 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 2403520	NM_001349336.2(SLC25A48):c.140G>A (p.Arg47His)	SLC25A48 (R47H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2595723	NM_001349336.2(SLC25A48):c.142G>A (p.Val48Met)	SLC25A48 (V48M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3163797	NM_001349336.2(SLC25A48):c.153G>T (p.Arg51Ser)	SLC25A48 (R51S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163798	NM_001349336.2(SLC25A48):c.199G>A (p.Ala67Thr)	SLC25A48 (A67T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163799	NM_001349336.2(SLC25A48):c.277G>A (p.Gly93Arg)	SLC25A48 (G39R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2248291	NM_001349336.2(SLC25A48):c.367C>A (p.Pro123Thr)	SLC25A48 (P123T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325257	NM_001349336.2(SLC25A48):c.410C>G (p.Pro137Arg)	SLC25A48 (P137R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +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: 23