SLC24A3[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2624232	NM_020689.4(SLC24A3):c.7C>A (p.Pro3Thr)	SLC24A3 (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282391	NM_020689.4(SLC24A3):c.8C>T (p.Pro3Leu)	SLC24A3 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236345	NM_020689.4(SLC24A3):c.17A>C (p.Asp6Ala)	SLC24A3 (D6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163550	NM_020689.4(SLC24A3):c.19G>C (p.Glu7Gln)	SLC24A3 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356145	NM_020689.4(SLC24A3):c.29C>T (p.Ala10Val)	SLC24A3 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256184	NM_020689.4(SLC24A3):c.44G>A (p.Arg15His)	SLC24A3 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523464	NM_020689.4(SLC24A3):c.80T>C (p.Leu27Pro)	SLC24A3 (L27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377156	NM_020689.4(SLC24A3):c.229G>A (p.Glu77Lys)	SLC24A3, SLC24A3-AS1 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306633	NM_020689.4(SLC24A3):c.233A>C (p.Asp78Ala)	SLC24A3, SLC24A3-AS1 (D78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609724	NM_020689.4(SLC24A3):c.245G>A (p.Arg82Gln)	SLC24A3, SLC24A3-AS1 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218802	NM_020689.4(SLC24A3):c.255G>C (p.Lys85Asn)	SLC24A3, SLC24A3-AS1 (K85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395498	NM_020689.4(SLC24A3):c.278A>T (p.His93Leu)	SLC24A3 (H93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604195	NM_020689.4(SLC24A3):c.307G>A (p.Glu103Lys)	SLC24A3 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163551	NM_020689.4(SLC24A3):c.425G>A (p.Arg142His)	SLC24A3 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229328	NM_020689.4(SLC24A3):c.538G>C (p.Val180Leu)	SLC24A3 (V180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750634	NM_020689.4(SLC24A3):c.666G>C (p.Leu222=)	SLC24A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234185	NM_020689.4(SLC24A3):c.745C>G (p.Leu249Val)	SLC24A3 (L249V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2618437	NM_020689.4(SLC24A3):c.749T>C (p.Ile250Thr)	SLC24A3 (I250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545924	NM_020689.4(SLC24A3):c.765G>A (p.Met255Ile)	SLC24A3 (M255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540269	NM_020689.4(SLC24A3):c.814G>T (p.Ala272Ser)	SLC24A3 (A272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460957	NM_020689.4(SLC24A3):c.817G>A (p.Gly273Arg)	SLC24A3 (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652225	NM_020689.4(SLC24A3):c.826G>A (p.Val276Ile)	SLC24A3 (V276I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224803	NM_020689.4(SLC24A3):c.832G>A (p.Gly278Arg)	SLC24A3 (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163552	NM_020689.4(SLC24A3):c.874G>A (p.Asp292Asn)	SLC24A3 (D292N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539346	NM_020689.4(SLC24A3):c.1027C>T (p.Arg343Trp)	SLC24A3 (R343W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163543	NM_020689.4(SLC24A3):c.1030C>T (p.Leu344Phe)	SLC24A3 (L344F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325042	NM_020689.4(SLC24A3):c.1033T>C (p.Ser345Pro)	SLC24A3 (S345P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163544	NM_020689.4(SLC24A3):c.1097A>G (p.Asn366Ser)	SLC24A3 (N366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594421	NM_020689.4(SLC24A3):c.1129A>G (p.Ile377Val)	SLC24A3 (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237452	NM_020689.4(SLC24A3):c.1179G>C (p.Arg393Ser)	SLC24A3 (R393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589267	NM_020689.4(SLC24A3):c.1195C>T (p.Arg399Trp)	SLC24A3 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384806	NM_020689.4(SLC24A3):c.1213G>A (p.Ala405Thr)	SLC24A3 (A405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319174	NM_020689.4(SLC24A3):c.1232C>G (p.Thr411Arg)	SLC24A3 (T411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462668	NM_020689.4(SLC24A3):c.1315G>A (p.Asp439Asn)	SLC24A3 (D439N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163545	NM_020689.4(SLC24A3):c.1415G>T (p.Trp472Leu)	SLC24A3 (W472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319175	NM_020689.4(SLC24A3):c.1501A>G (p.Ile501Val)	SLC24A3 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163546	NM_020689.4(SLC24A3):c.1501A>T (p.Ile501Phe)	SLC24A3 (I501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541602	NM_020689.4(SLC24A3):c.1511C>A (p.Thr504Asn)	SLC24A3 (T504N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319173	NM_020689.4(SLC24A3):c.1528G>A (p.Val510Ile)	SLC24A3 (V510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163547	NM_020689.4(SLC24A3):c.1531A>C (p.Ile511Leu)	SLC24A3 (I511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557491	NM_020689.4(SLC24A3):c.1567G>A (p.Val523Met)	SLC24A3 (V523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735665	NM_020689.4(SLC24A3):c.1719C>T (p.Tyr573=)	SLC24A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3163548	NM_020689.4(SLC24A3):c.1876A>T (p.Ile626Phe)	SLC24A3 (I626F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163549	NM_020689.4(SLC24A3):c.1880T>C (p.Met627Thr)	SLC24A3 (M627T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319045	NM_020689.4(SLC24A3):c.1924G>C (p.Gly642Arg)	SLC24A3 (G642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148932	GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3	CFAP61, CRNKL1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328444	GRCh37/hg19 20p11.23(chr20:19188940-19354118)x3	SLC24A3	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 221545	GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3	NAA20, RIN2 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 72