"GeneDx"[submitter] AND "SLC25A46"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
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 1187279	NM_001303250.3(SLC25A46):c.10+431T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219661	NM_001303250.3(SLC25A46):c.10+449T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284005	NM_138773.3(SLC25A46):c.-144T>G	LOC129994343, SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422422	NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)	SLC25A46 (R5fs)	Insertion (frameshift variant +2 more)	Pontocerebellar hypoplasia, type 1E +3 more	GPathogenic
Select item 542449	NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)	SLC25A46 (R15Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 542454	NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)	SLC25A46 (A18S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 860991	NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)	SLC25A46 (W42G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 475791	NM_138773.4(SLC25A46):c.147C>T (p.Ile49=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 542451	NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)	SLC25A46 (P50T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 641076	NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)	SLC25A46 (W57R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 542455	NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)	SLC25A46 (E79K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706462	NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)	SLC25A46 (S93N)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GLikely benign
Select item 673780	NM_138773.4(SLC25A46):c.283+28A>T	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214969	NM_138773.4(SLC25A46):c.283+169T>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193429	NM_138773.4(SLC25A46):c.283+170C>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683978	NM_138773.4(SLC25A46):c.283+311C>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267067	NM_138773.4(SLC25A46):c.284-312G>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 836468	NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr)	SLC25A46 (I14T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 671399	NM_138773.4(SLC25A46):c.346T>C (p.Leu116=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 475793	NM_138773.4(SLC25A46):c.378A>G (p.Gln126=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign/Likely benign
Select item 673781	NM_138773.4(SLC25A46):c.384+12T>G	SLC25A46	Single nucleotide variant (intron variant)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 673164	NM_138773.4(SLC25A46):c.384+243G>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673797	NM_138773.4(SLC25A46):c.384+280G>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187696	NM_138773.4(SLC25A46):c.385-285T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217979	NM_138773.4(SLC25A46):c.385-226T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217549	NM_138773.4(SLC25A46):c.385-93T>G	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475795	NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)	SLC25A46 (T139N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 475796	NM_138773.4(SLC25A46):c.429C>T (p.Val143=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 1415659	NM_138773.4(SLC25A46):c.436A>G (p.Ile146Val)	SLC25A46 (I146V +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1196782	NM_138773.4(SLC25A46):c.462+29G>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672911	NM_138773.4(SLC25A46):c.462+106T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216537	NM_138773.4(SLC25A46):c.462+148T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207629	NM_138773.4(SLC25A46):c.463-342T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475797	NM_138773.4(SLC25A46):c.563+6A>T	SLC25A46	Single nucleotide variant (intron variant)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 671401	NM_138773.4(SLC25A46):c.563+190T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671599	NM_138773.4(SLC25A46):c.564-107A>G	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 567704	NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)	SLC25A46 (G200R +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1201822	NM_138773.4(SLC25A46):c.620+241G>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216919	NM_138773.4(SLC25A46):c.620+265T>C	SLC25A46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671100	NM_138773.4(SLC25A46):c.621-242A>G	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 475799	NM_138773.4(SLC25A46):c.631G>A (p.Val211Met)	SLC25A46 (V211M +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GLikely benign
Select item 671104	NM_138773.4(SLC25A46):c.678+72A>G	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260263	NM_138773.4(SLC25A46):c.678+86C>T	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673807	NM_138773.4(SLC25A46):c.679-259T>A	SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668632	NM_138773.4(SLC25A46):c.714G>A (p.Glu238=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 429566	NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu)	SLC25A46 (I248L +1 more)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GConflicting classifications of pathogenicity
Select item 475800	NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg)	SLC25A46 (K256R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 475801	NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg)	SLC25A46 (L259R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 422421	NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met)	SLC25A46 (T268M +1 more)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GConflicting classifications of pathogenicity
Select item 3371427	NM_138773.4(SLC25A46):c.873G>C (p.Lys291Asn)	SLC25A46 (K200N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 372240	NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)	SLC25A46 (N296fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 542458	NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)	SLC25A46	Duplication (inframe_insertion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372241	NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)	SLC25A46 (P333L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1037241	NM_138773.4(SLC25A46):c.1019G>A (p.Arg340His)	SLC25A46 (R249H +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GUncertain significance
Select item 475788	NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp)	SLC25A46 (E379D +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 1286486	NM_138773.4(SLC25A46):c.*72C>A	SLC25A46	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253705	GRCh37/hg19 5q21.3-22.1(chr5:109438167-110644401)x3	WDR36, CAMK4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 60