SLC25A39[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2355621	NM_001143780.3(SLC25A39):c.1075G>A (p.Gly359Ser)	SLC25A39 (G336S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163725	NM_001143780.3(SLC25A39):c.1040T>G (p.Phe347Cys)	SLC25A39 (F347C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222331	NM_001143780.3(SLC25A39):c.1030G>A (p.Gly344Ser)	SLC25A39 (G336S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163735	NM_001143780.3(SLC25A39):c.941C>T (p.Ser314Leu)	SLC25A39 (S312L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163734	NM_001143780.3(SLC25A39):c.932G>A (p.Arg311Gln)	SLC25A39 (R210Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163733	NM_001143780.3(SLC25A39):c.866C>T (p.Ala289Val)	SLC25A39 (A287V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466818	NM_001143780.3(SLC25A39):c.800C>T (p.Thr267Met)	SLC25A39 (T166M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395842	NM_001143780.3(SLC25A39):c.781G>A (p.Ala261Thr)	SLC25A39 (A238T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163732	NM_001143780.3(SLC25A39):c.710A>G (p.Tyr237Cys)	SLC25A39 (Y136C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542632	NM_001143780.3(SLC25A39):c.637C>T (p.Arg213Cys)	SLC25A39 (R112C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681552	NM_001143780.3(SLC25A39):c.584C>T (p.Ser195Leu)	SLC25A39 (S172L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508645	NM_001143780.3(SLC25A39):c.581T>G (p.Val194Gly)	SLC25A39 (V171G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325761	NM_001143780.3(SLC25A39):c.556C>T (p.Arg186Trp)	SLC25A39 (R186W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242546	NM_001143780.3(SLC25A39):c.514C>T (p.Arg172Cys)	SLC25A39 (R149C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395848	NM_001143780.3(SLC25A39):c.493A>G (p.Met165Val)	SLC25A39 (M64V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477273	NM_001143780.3(SLC25A39):c.488C>T (p.Ala163Val)	SLC25A39 (A140V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647832	NM_001143780.3(SLC25A39):c.474C>T (p.Thr158=)	SLC25A39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380259	NM_001143780.3(SLC25A39):c.460G>A (p.Gly154Ser)	SLC25A39 (G146S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163731	NM_001143780.3(SLC25A39):c.415G>A (p.Ala139Thr)	SLC25A39 (A116T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302405	NM_001143780.3(SLC25A39):c.413C>T (p.Thr138Ile)	SLC25A39 (T130I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163730	NM_001143780.3(SLC25A39):c.389C>T (p.Thr130Ile)	SLC25A39 (T122I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163729	NM_001143780.3(SLC25A39):c.314C>T (p.Thr105Ile)	SLC25A39 (T105I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531107	NM_001143780.3(SLC25A39):c.308G>A (p.Arg103His)	SLC25A39 (R80H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243289	NM_001143780.3(SLC25A39):c.289T>C (p.Trp97Arg)	SLC25A39 (W97R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163728	NM_001143780.3(SLC25A39):c.278G>A (p.Arg93His)	SLC25A39 (A15T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208642	NM_001143780.3(SLC25A39):c.277C>T (p.Arg93Cys)	SLC25A39 (R70C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280146	NM_001143780.3(SLC25A39):c.236A>G (p.Asn79Ser)	SLC25A39 (N71S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163727	NM_001143780.3(SLC25A39):c.182A>G (p.Tyr61Cys)	SLC25A39 (Y61C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3163726	NM_001143780.3(SLC25A39):c.158C>T (p.Ser53Phe)	SLC25A39 (S53F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2376150	NM_001143780.3(SLC25A39):c.74C>T (p.Thr25Ile)	SLC25A39 (T25I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 38