SLC25A41[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2204183	NM_173637.4(SLC25A41):c.1075G>C (p.Val359Leu)	SLC25A41 (V221L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353156	NM_173637.4(SLC25A41):c.986G>A (p.Arg329Gln)	SLC25A41 (R191Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163763	NM_173637.4(SLC25A41):c.977T>C (p.Val326Ala)	SLC25A41 (V188A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368559	NM_173637.4(SLC25A41):c.973G>A (p.Gly325Arg)	SLC25A41 (G187R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226963	NM_173637.4(SLC25A41):c.775G>A (p.Asp259Asn)	SLC25A41 (D121N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514965	NM_173637.4(SLC25A41):c.730G>T (p.Gly244Cys)	SLC25A41 (G244C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163762	NM_173637.4(SLC25A41):c.665A>T (p.Tyr222Phe)	SLC25A41 (Y222F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469695	NM_173637.4(SLC25A41):c.638G>A (p.Arg213Gln)	SLC25A41 (R213Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401127	NM_173637.4(SLC25A41):c.625G>A (p.Val209Met)	SLC25A41 (V71M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163761	NM_173637.4(SLC25A41):c.580T>A (p.Ser194Thr)	SLC25A41 (S194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548730	NM_173637.4(SLC25A41):c.580T>C (p.Ser194Pro)	SLC25A41 (S56P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163759	NM_173637.4(SLC25A41):c.565C>T (p.Arg189Cys)	SLC25A41 (R51C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343181	NM_173637.4(SLC25A41):c.505G>A (p.Val169Ile)	SLC25A41 (V169I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163758	NM_173637.4(SLC25A41):c.465C>A (p.Asn155Lys)	SLC25A41 (N155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163757	NM_173637.4(SLC25A41):c.455A>G (p.Asn152Ser)	SLC25A41 (N152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486442	NM_173637.4(SLC25A41):c.448C>T (p.Arg150Trp)	SLC25A41 (R12W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163756	NM_173637.4(SLC25A41):c.404G>A (p.Gly135Glu)	SLC25A41 (G135E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492143	NM_173637.4(SLC25A41):c.389C>G (p.Thr130Ser)	SLC25A41 (T130S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163755	NM_173637.4(SLC25A41):c.360G>A (p.Met120Ile)	SLC25A41 (M120I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455733	NM_173637.4(SLC25A41):c.329C>T (p.Thr110Met)	SLC25A41 (T110M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163754	NM_173637.4(SLC25A41):c.323C>T (p.Thr108Met)	SLC25A41 (T108M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2397468	NM_173637.4(SLC25A41):c.304G>T (p.Ala102Ser)	SLC25A41 (A102S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2487775	NM_173637.4(SLC25A41):c.298G>A (p.Ala100Thr)	SLC25A41 (A100T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597319	NM_173637.4(SLC25A41):c.181A>G (p.Asn61Asp)	SLC25A41 (N61D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163753	NM_173637.4(SLC25A41):c.175G>A (p.Asp59Asn)	SLC25A41 (D59N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294754	NM_173637.4(SLC25A41):c.169A>G (p.Met57Val)	SLC25A41 (M57V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2403830	NM_173637.4(SLC25A41):c.158C>A (p.Ala53Glu)	SLC25A41 (A53E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232964	NM_173637.4(SLC25A41):c.157G>A (p.Ala53Thr)	SLC25A41 (A53T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163751	NM_173637.4(SLC25A41):c.137G>A (p.Cys46Tyr)	SLC25A41 (C46Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278959	NM_173637.4(SLC25A41):c.129C>A (p.Asn43Lys)	SLC25A41 (N43K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163752	NM_173637.4(SLC25A41):c.13C>T (p.Pro5Ser)	SLC25A41 (P5S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1526654	GRCh37/hg19 19p13.3(chr19:6394117-6469834)	SLC25A41, CRB3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 44