SLC24A3[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1328444	GRCh37/hg19 20p11.23(chr20:19188940-19354118)x3	SLC24A3	Copy number gain	not provided	GUncertain significance

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Items: 42