6578[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 1438342	NM_005630.3(SLCO2A1):c.1931G>C (p.Ter644Ser)	SLCO2A1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 780895	NM_005630.3(SLCO2A1):c.1923C>T (p.Gly641=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2717452	NM_005630.3(SLCO2A1):c.1917G>A (p.Ala639=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741258	NM_005630.3(SLCO2A1):c.1905C>T (p.Asn635=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2720545	NM_005630.3(SLCO2A1):c.1899G>A (p.Glu633=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718562	NM_005630.3(SLCO2A1):c.1873A>T (p.Ser625Cys)	SLCO2A1 (S625C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133923	NM_005630.3(SLCO2A1):c.1851C>G (p.Gly617=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183069	NM_005630.3(SLCO2A1):c.1845G>A (p.Ala615=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396796	NM_005630.3(SLCO2A1):c.1844C>T (p.Ala615Val)	SLCO2A1 (A615V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445079	NM_005630.3(SLCO2A1):c.1837T>C (p.Tyr613His)	SLCO2A1 (Y613H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997335	NM_005630.3(SLCO2A1):c.1827G>A (p.Leu609=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481913	NM_005630.3(SLCO2A1):c.1815-2A>T	SLCO2A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1949175	NM_005630.3(SLCO2A1):c.1815-17CCT[2]	SLCO2A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1570912	NM_005630.3(SLCO2A1):c.1815-11C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657095	NM_005630.3(SLCO2A1):c.1815-14C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906666	NM_005630.3(SLCO2A1):c.1815-15T>G	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678411	NM_005630.3(SLCO2A1):c.1815-111A>G	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1572646	NM_005630.3(SLCO2A1):c.1814+11A>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568549	NM_005630.3(SLCO2A1):c.1814+7G>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174125	NM_005630.3(SLCO2A1):c.1814+1G>A	SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 742920	NM_005630.3(SLCO2A1):c.1812C>T (p.Asp604=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418501	NM_005630.3(SLCO2A1):c.1808G>C (p.Arg603Pro)	SLCO2A1 (R603P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225477	NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)	SLCO2A1 (R603*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1950910	NM_005630.3(SLCO2A1):c.1799A>T (p.Asp600Val)	SLCO2A1 (D600V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423437	NM_005630.3(SLCO2A1):c.1798G>A (p.Asp600Asn)	SLCO2A1 (D600N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733412	NM_005630.3(SLCO2A1):c.1797C>T (p.Asn599=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1433925	NM_005630.3(SLCO2A1):c.1783G>A (p.Ala595Thr)	SLCO2A1 (A595T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646731	NM_005630.3(SLCO2A1):c.1782C>T (p.Cys594=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471885	NM_005630.3(SLCO2A1):c.1772G>A (p.Arg591Gln)	SLCO2A1 (R591Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203442	NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter)	SLCO2A1 (R591*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1978090	NM_005630.3(SLCO2A1):c.1768del (p.Arg590fs)	SLCO2A1 (R590fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2964565	NM_005630.3(SLCO2A1):c.1767G>A (p.Gly589=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460624	NM_005630.3(SLCO2A1):c.1755G>T (p.Ser585=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788397	NM_005630.3(SLCO2A1):c.1755G>A (p.Ser585=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2041965	NM_005630.3(SLCO2A1):c.1745G>A (p.Arg582Gln)	SLCO2A1 (R582Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437013	NM_005630.3(SLCO2A1):c.1742T>G (p.Ile581Ser)	SLCO2A1 (I581S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000708	NM_005630.3(SLCO2A1):c.1728T>A (p.Ile576=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482630	NM_005630.3(SLCO2A1):c.1718G>T (p.Gly573Val)	SLCO2A1 (G573V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719234	NM_005630.3(SLCO2A1):c.1691-5T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1449862	NM_005630.3(SLCO2A1):c.1691-10C>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177670	NM_005630.3(SLCO2A1):c.1691-105C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223745	NM_005630.3(SLCO2A1):c.1691-260C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1382119	NM_005630.3(SLCO2A1):c.1690+6T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1548470	NM_005630.3(SLCO2A1):c.1672T>C (p.Leu558=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920742	NM_005630.3(SLCO2A1):c.1668G>C (p.Gln556His)	SLCO2A1	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 1174124	NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg)	SLCO2A1 (G554R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 733498	NM_005630.3(SLCO2A1):c.1657A>G (p.Ile553Val)	SLCO2A1 (I553V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30188	NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs)	SLCO2A1 (N545fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 1899801	NM_005630.3(SLCO2A1):c.1626-17C>G	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286915	NM_005630.3(SLCO2A1):c.1626-295A>G	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296827	NM_005630.3(SLCO2A1):c.1625+97C>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554053	NM_005630.3(SLCO2A1):c.1625+17T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994146	NM_005630.3(SLCO2A1):c.1625+8G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1364913	NM_005630.3(SLCO2A1):c.1625+6T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1316017	NM_005630.3(SLCO2A1):c.1625G>A (p.Arg542His)	SLCO2A1 (R542H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470160	NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys)	SLCO2A1 (R542C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2065998	NM_005630.3(SLCO2A1):c.1615A>G (p.Met539Val)	SLCO2A1 (M539V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732897	NM_005630.3(SLCO2A1):c.1581G>C (p.Leu527=)	SLCO2A1	Single nucleotide variant (synonymous variant)	SLCO2A1-related disorder +1 more	GLikely benign
Select item 2187387	NM_005630.3(SLCO2A1):c.1573G>A (p.Val525Met)	SLCO2A1 (V525M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894960	NM_005630.3(SLCO2A1):c.1572C>T (p.Phe524=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654206	NM_005630.3(SLCO2A1):c.1551G>A (p.Pro517=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361833	NM_005630.3(SLCO2A1):c.1550C>T (p.Pro517Leu)	SLCO2A1 (P517L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1974992	NM_005630.3(SLCO2A1):c.1542C>T (p.Phe514=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925436	NM_005630.3(SLCO2A1):c.1537C>G (p.His513Asp)	SLCO2A1 (H513D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3165824	NM_005630.3(SLCO2A1):c.1534G>C (p.Ala512Pro)	SLCO2A1 (A512P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977936	NM_005630.3(SLCO2A1):c.1524del (p.Val509fs)	SLCO2A1 (V509fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 1426789	NM_005630.3(SLCO2A1):c.1516T>A (p.Ser506Thr)	SLCO2A1 (S506T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419236	NM_005630.3(SLCO2A1):c.1509G>T (p.Lys503Asn)	SLCO2A1 (K503N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2708031	NM_005630.3(SLCO2A1):c.1497dup (p.Ala500fs)	SLCO2A1 (A500fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1578221	NM_005630.3(SLCO2A1):c.1498G>A (p.Ala500Thr)	SLCO2A1 (A500T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715347	NM_005630.3(SLCO2A1):c.1497C>T (p.Ser499=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913028	NM_005630.3(SLCO2A1):c.1489G>A (p.Gly497Arg)	SLCO2A1 (G497R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180598	NM_005630.3(SLCO2A1):c.1488C>T (p.Thr496=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009388	NM_005630.3(SLCO2A1):c.1476C>T (p.Cys492=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662966	NM_005630.3(SLCO2A1):c.1462-9C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275731	NM_005630.3(SLCO2A1):c.1461+258T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250041	NM_005630.3(SLCO2A1):c.1461+105AC[6]	SLCO2A1	Microsatellite (intron variant)	not provided	GBenign
Select item 2920745	NM_005630.3(SLCO2A1):c.1461+1G>C	LOC123038185, SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 793435	NM_005630.3(SLCO2A1):c.1440C>T (p.Ser480=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530255	NM_005630.3(SLCO2A1):c.1434C>A (p.Asn478Lys)	LOC123038185, SLCO2A1 (N478K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1898146	NM_005630.3(SLCO2A1):c.1417G>A (p.Gly473Ser)	LOC123038185, SLCO2A1 (G473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781714	NM_005630.3(SLCO2A1):c.1385A>G (p.Asn462Ser)	LOC123038185, SLCO2A1 (N462S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1716737	NM_005630.3(SLCO2A1):c.1382A>G (p.Asp461Gly)	LOC123038185, SLCO2A1 (D461G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320367	NM_005630.3(SLCO2A1):c.1381G>C (p.Asp461His)	LOC123038185, SLCO2A1 (D461H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058266	NM_005630.3(SLCO2A1):c.1373T>C (p.Val458Ala)	LOC123038185, SLCO2A1 (V458A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920746	NM_005630.3(SLCO2A1):c.1372G>T (p.Val458Phe)	LOC123038185, SLCO2A1	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2428399	NM_005630.3(SLCO2A1):c.1371G>A (p.Pro457=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594715	NM_005630.3(SLCO2A1):c.1371G>C (p.Pro457=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573209	NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)	LOC123038185, SLCO2A1 (P457L)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 1315796	NM_005630.3(SLCO2A1):c.1370C>G (p.Pro457Arg)	LOC123038185, SLCO2A1 (P457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954628	NM_005630.3(SLCO2A1):c.1347G>A (p.Ser449=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118610	NM_005630.3(SLCO2A1):c.1345T>C (p.Ser449Pro)	LOC123038185, SLCO2A1 (S449P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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