SLC45A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 1263925	NC_000005.10:g.33944407A>G	SLC45A2	Single nucleotide variant	not provided	GBenign
Select item 1282815	NC_000005.10:g.33944490del	SLC45A2	Deletion	not provided	GBenign
Select item 1252225	NC_000005.10:g.33944490_33944492del	SLC45A2	Deletion	not provided	GBenign
Select item 1246875	NC_000005.10:g.33944490_33944498del	SLC45A2	Deletion	not provided	GBenign
Select item 353210	NM_016180.4(SLC45A2):c.*29C>G	SLC45A2	Single nucleotide variant	Oculocutaneous albinism	GUncertain significance
Select item 906956	NM_016180.5(SLC45A2):c.*24A>C	SLC45A2	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 4	GLikely benign
Select item 906957	NM_016180.5(SLC45A2):c.*1G>A	SLC45A2	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 2090153	NM_016180.5(SLC45A2):c.1592A>G (p.Ter531Trp)	SLC45A2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2990934	NM_016180.5(SLC45A2):c.1584T>C (p.Tyr528=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952785	NM_016180.5(SLC45A2):c.1579A>G (p.Arg527Gly)	SLC45A2 (R527G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871678	NM_016180.5(SLC45A2):c.1575_1578del (p.Phe525fs)	SLC45A2 (F525fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 632460	NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs)	SLC45A2 (F525fs)	Duplication (frameshift variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 2799842	NM_016180.5(SLC45A2):c.1572C>T (p.Leu524=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652589	NM_016180.5(SLC45A2):c.1572C>G (p.Leu524=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432027	NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)	SLC45A2 (L524F)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +2 more	GUncertain significance
Select item 1318809	NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr)	SLC45A2 (A523T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708478	NM_016180.5(SLC45A2):c.1566C>G (p.Val522=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672827	NM_016180.5(SLC45A2):c.1566C>T (p.Val522=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939785	NM_016180.5(SLC45A2):c.1555T>C (p.Cys519Arg)	SLC45A2 (C519R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2180906	NM_016180.5(SLC45A2):c.1550T>C (p.Ile517Thr)	SLC45A2 (I517T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618862	NM_016180.5(SLC45A2):c.1548G>T (p.Leu516=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529891	NM_016180.5(SLC45A2):c.1548G>C (p.Leu516=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426008	NM_016180.5(SLC45A2):c.1534_1539dup (p.Ser512_Ala513dup)	SLC45A2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1989404	NM_016180.5(SLC45A2):c.1539G>A (p.Ala513=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365427	NM_016180.5(SLC45A2):c.1538C>A (p.Ala513Glu)	SLC45A2 (A513E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 353211	NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +2 more	GConflicting classifications of pathogenicity
Select item 2203615	NM_016180.5(SLC45A2):c.1532C>A (p.Ala511Glu)	SLC45A2 (A511E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 617813	NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)	SLC45A2 (A511V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1520375	NM_016180.5(SLC45A2):c.1528A>G (p.Thr510Ala)	SLC45A2 (T510A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443029	NM_016180.5(SLC45A2):c.1522G>T (p.Val508Leu)	SLC45A2 (V508L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940666	NM_016180.5(SLC45A2):c.1521G>C (p.Val507=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449517	NM_016180.5(SLC45A2):c.1519G>A (p.Val507Met)	SLC45A2 (V507M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906958	NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)	SLC45A2 (V507L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 436756	NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)	SLC45A2	Single nucleotide variant (synonymous variant)	SLC45A2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 906959	NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)	SLC45A2 (V506I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1584824	NM_016180.5(SLC45A2):c.1515C>T (p.Val505=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347593	NM_016180.5(SLC45A2):c.1510G>A (p.Val504Ile)	SLC45A2 (V504I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916266	NM_016180.5(SLC45A2):c.1509C>T (p.Thr503=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203616	NM_016180.5(SLC45A2):c.1504G>A (p.Gly502Arg)	SLC45A2 (G502R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 735832	NM_016180.5(SLC45A2):c.1503C>T (p.Ala501=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905186	NM_016180.5(SLC45A2):c.1500A>G (p.Thr500=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763777	NM_016180.5(SLC45A2):c.1476T>C (p.Gly492=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988828	NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg)	SLC45A2 (G491R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3013869	NM_016180.5(SLC45A2):c.1470C>T (p.Val490=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771844	NM_016180.5(SLC45A2):c.1465C>T (p.Leu489=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815745	NM_016180.5(SLC45A2):c.1464C>A (p.Ile488=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955232	NM_016180.5(SLC45A2):c.1463T>C (p.Ile488Thr)	SLC45A2 (I488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355119	NM_016180.5(SLC45A2):c.1463T>G (p.Ile488Ser)	SLC45A2 (I488S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402930	NM_016180.5(SLC45A2):c.1460A>T (p.Gln487Leu)	SLC45A2 (Q487L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839707	NM_016180.5(SLC45A2):c.1458T>A (p.Ala486=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4502	NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)	SLC45A2 (A486V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 242519	NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro)	SLC45A2 (L485P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2127272	NM_016180.5(SLC45A2):c.1450C>T (p.Gln484Ter)	SLC45A2 (Q484*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3164883	NM_016180.5(SLC45A2):c.1447G>C (p.Val483Leu)	SLC45A2 (V483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505784	NM_016180.5(SLC45A2):c.1445T>G (p.Met482Arg)	SLC45A2 (M482R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417937	NM_016180.5(SLC45A2):c.1439C>T (p.Thr480Ile)	SLC45A2 (T480I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838909	NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)	SLC45A2 (L479fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1418883	NM_016180.5(SLC45A2):c.1435C>G (p.Leu479Val)	SLC45A2 (L479V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743725	NM_016180.5(SLC45A2):c.1428C>A (p.Cys476Ter)	SLC45A2 (C476*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1591293	NM_016180.5(SLC45A2):c.1428C>T (p.Cys476=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841981	NM_016180.5(SLC45A2):c.1418del (p.Gly473fs)	SLC45A2 (G473fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2203617	NM_016180.5(SLC45A2):c.1418G>A (p.Gly473Asp)	SLC45A2 (G473D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350360	NM_016180.5(SLC45A2):c.1417G>A (p.Gly473Ser)	SLC45A2 (G473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572212	NM_016180.5(SLC45A2):c.1416G>A (p.Lys472=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392816	NM_016180.5(SLC45A2):c.1415A>G (p.Lys472Arg)	SLC45A2 (K472R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822798	NM_016180.5(SLC45A2):c.1407G>A (p.Val469=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416564	NM_016180.5(SLC45A2):c.1405G>A (p.Val469Met)	SLC45A2 (V469M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974906	NM_016180.5(SLC45A2):c.1404C>T (p.Ser468=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971232	NM_016180.5(SLC45A2):c.1397ACA[1] (p.Asn467del)	SLC45A2 (N467del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1452863	NM_016180.5(SLC45A2):c.1401C>T (p.Asn467=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079923	NM_016180.5(SLC45A2):c.1390G>T (p.Asp464Tyr)	SLC45A2 (D464Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857379	NM_016180.5(SLC45A2):c.1389G>A (p.Gly463=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842112	NM_016180.5(SLC45A2):c.1389G>C (p.Gly463=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184894	NM_016180.5(SLC45A2):c.1383A>G (p.Pro461=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432156	NM_016180.5(SLC45A2):c.1381C>T (p.Pro461Ser)	SLC45A2 (P461S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365853	NM_016180.5(SLC45A2):c.1379C>T (p.Ala460Val)	SLC45A2 (A460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1518724	NM_016180.5(SLC45A2):c.1378G>A (p.Ala460Thr)	SLC45A2 (A460T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789759	NM_016180.5(SLC45A2):c.1371G>A (p.Arg457=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615704	NM_016180.5(SLC45A2):c.1369-12C>T	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545036	NM_016180.5(SLC45A2):c.1369-13G>A	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260691	NM_016180.5(SLC45A2):c.1369-18T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1282588	NM_016180.5(SLC45A2):c.1368+100G>C	SLC45A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1633880	NM_016180.5(SLC45A2):c.1368+14G>C	SLC45A2	Single nucleotide variant (stop lost +1 more)	not provided	GLikely benign
Select item 436759	NM_016180.5(SLC45A2):c.1368+1G>T	SLC45A2 (V457L)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4	GPathogenic
Select item 1316442	NM_016180.5(SLC45A2):c.1368G>A (p.Glu456=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1350299	NM_016180.5(SLC45A2):c.1354G>A (p.Glu452Lys)	SLC45A2 (E452K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636375	NM_016180.5(SLC45A2):c.1353C>T (p.Arg451=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 284405	NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His)	SLC45A2 (R451H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +2 more	GUncertain significance
Select item 353212	NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys)	SLC45A2 (R451C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2706457	NM_016180.5(SLC45A2):c.1347C>G (p.Tyr449Ter)	SLC45A2 (Y449*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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