SLC25A33[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 2457193	NM_032315.3(SLC25A33):c.34C>G (p.Leu12Val)	LOC120883622, SLC25A33 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354681	NM_032315.3(SLC25A33):c.45C>T (p.Leu15=)	LOC120883622, SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GLikely benign
Select item 3319227	NM_032315.3(SLC25A33):c.113G>A (p.Arg38Gln)	SLC25A33 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050771	NM_032315.3(SLC25A33):c.138C>T (p.Leu46=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GBenign
Select item 3163690	NM_032315.3(SLC25A33):c.155C>T (p.Pro52Leu)	SLC25A33 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298307	NM_032315.3(SLC25A33):c.238T>A (p.Ser80Thr)	SLC25A33 (S80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298308	NM_032315.3(SLC25A33):c.239C>G (p.Ser80Trp)	SLC25A33 (S80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319226	NM_032315.3(SLC25A33):c.325T>G (p.Phe109Val)	SLC25A33 (F109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514879	NM_032315.3(SLC25A33):c.340A>G (p.Lys114Glu)	SLC25A33 (K114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163692	NM_032315.3(SLC25A33):c.370G>A (p.Val124Met)	SLC25A33 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319225	NM_032315.3(SLC25A33):c.410C>T (p.Ser137Phe)	SLC25A33 (S137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328271	NM_032315.3(SLC25A33):c.418T>C (p.Phe140Leu)	SLC25A33 (F140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163693	NM_032315.3(SLC25A33):c.454G>C (p.Val152Leu)	SLC25A33 (V152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041935	NM_032315.3(SLC25A33):c.477A>G (p.Glu159=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GBenign
Select item 3163694	NM_032315.3(SLC25A33):c.541G>A (p.Glu181Lys)	SLC25A33 (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163695	NM_032315.3(SLC25A33):c.550C>T (p.Arg184Cys)	SLC25A33 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309218	NM_032315.3(SLC25A33):c.793G>A (p.Gly265Ser)	SLC25A33 (G265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050590	NM_032315.3(SLC25A33):c.801G>A (p.Lys267=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GLikely benign
Select item 2310418	NM_032315.3(SLC25A33):c.806A>C (p.Lys269Thr)	SLC25A33 (K269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455891	NM_032315.3(SLC25A33):c.839G>A (p.Arg280Gln)	SLC25A33 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163696	NM_032315.3(SLC25A33):c.956G>T (p.Arg319Leu)	SLC25A33 (R319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163697	NM_032315.3(SLC25A33):c.959C>T (p.Thr320Ile)	SLC25A33 (T320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041336	NM_032315.3(SLC25A33):c.*4G>T	SLC25A33	Single nucleotide variant (3 prime UTR variant)	SLC25A33-related disorder	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2685796	GRCh37/hg19 1p36.22(chr1:9344897-9627901)x3	SLC25A33, SPSB1	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1527281	GRCh37/hg19 1p36.22(chr1:9616141-9971665)	CLSTN1, CTNNBIP1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 67