SLC2A3[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147698	GRCh38/hg38 12p13.31(chr12:7747398-7919345)x3	CLEC4C, LOC108942766 +11 more	Copy number gain	See cases	GBenign
Select item 147678	GRCh38/hg38 12p13.31(chr12:7747398-7936064)x3	CLEC4C, LOC108942766 +11 more	Copy number gain	See cases	GBenign
Select item 157237	NC_000012.12:g.7777575_7949790dup	LOC108942766, LOC116268429 +8 more	Duplication	Preeclampsia	Gnot provided
Select item 157236	NC_000012.12:g.7777575_7993566dup	LOC108942766, LOC116268429 +12 more	Duplication	Large for gestational age	Gnot provided
Select item 150900	GRCh38/hg38 12p13.31(chr12:7832894-7965604)x3	LOC116268429, LOC116268430 +8 more	Copy number gain	See cases	GLikely benign
Select item 157238	NC_000012.12:g.7840720_7973149dup	LOC116268429, LOC116268430 +8 more	Duplication	Normal pregnancy	Gnot provided
Select item 157239	NC_000012.12:g.7848316_7961833dup	LOC116268429, LOC116268430 +8 more	Duplication	Large for gestational age	Gnot provided
Select item 146610	GRCh38/hg38 12p13.31(chr12:7850818-7936064)x1	LOC124625898, LOC126861438 +3 more	Copy number loss	See cases	GBenign
Select item 150653	GRCh38/hg38 12p13.31(chr12:7850905-8455624)x1	C3AR1, CLEC4A +39 more	Copy number loss	See cases	GLikely benign
Select item 221742	GRCh38/hg38 12p13.31(chr12:7851162-7970710)x1	LOC116268429, LOC116268430 +8 more	Copy number loss	Premature ovarian failure	GBenign
Select item 149391	GRCh38/hg38 12p13.31(chr12:7855211-7965604)x3	LOC116268429, LOC116268430 +7 more	Copy number gain	See cases	GLikely benign
Select item 3164137	NM_006931.3(SLC2A3):c.1459G>A (p.Glu487Lys)	SLC2A3 (E487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164136	NM_006931.3(SLC2A3):c.1361G>A (p.Arg454His)	SLC2A3 (R454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526191	NM_006931.3(SLC2A3):c.1286C>G (p.Ala429Gly)	SLC2A3 (A429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737785	NM_006931.3(SLC2A3):c.1272+9A>T	SLC2A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759975	NM_006931.3(SLC2A3):c.1266C>T (p.Ser422=)	SLC2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2549757	NM_006931.3(SLC2A3):c.1226A>G (p.Asn409Ser)	SLC2A3 (N409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232391	NM_006931.3(SLC2A3):c.1204A>G (p.Met402Val)	SLC2A3 (M402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407153	NM_006931.3(SLC2A3):c.1127T>G (p.Phe376Cys)	SLC2A3 (F376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257920	NM_006931.3(SLC2A3):c.1109T>C (p.Ile370Thr)	SLC2A3 (I370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771454	NM_006931.3(SLC2A3):c.1068+4G>A	SLC2A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3164142	NM_006931.3(SLC2A3):c.998C>T (p.Thr333Ile)	SLC2A3 (T333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320361	NM_006931.3(SLC2A3):c.843G>T (p.Gln281His)	SLC2A3 (Q281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480170	NM_006931.3(SLC2A3):c.826C>T (p.Leu276Phe)	SLC2A3 (L276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553380	NM_006931.3(SLC2A3):c.812T>C (p.Ile271Thr)	SLC2A3 (I271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310996	NM_006931.3(SLC2A3):c.811A>G (p.Ile271Val)	SLC2A3 (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366531	NM_006931.3(SLC2A3):c.745A>G (p.Met249Val)	SLC2A3 (M249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164140	NM_006931.3(SLC2A3):c.641T>C (p.Ile214Thr)	SLC2A3 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468574	NM_006931.3(SLC2A3):c.554C>T (p.Pro185Leu)	SLC2A3 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711921	NM_006931.3(SLC2A3):c.511-8G>A	SLC2A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2346491	NM_006931.3(SLC2A3):c.490G>A (p.Val164Ile)	SLC2A3 (V164I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720125	NM_006931.3(SLC2A3):c.486C>A (p.Ile162=)	SLC2A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267783	NM_006931.3(SLC2A3):c.466A>T (p.Thr156Ser)	SLC2A3 (T156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516892	NM_006931.3(SLC2A3):c.445G>C (p.Ala149Pro)	SLC2A3 (A149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510270	NM_006931.3(SLC2A3):c.319T>C (p.Phe107Leu)	SLC2A3 (F107L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164139	NM_006931.3(SLC2A3):c.280A>G (p.Met94Val)	SLC2A3 (M94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475942	NM_006931.3(SLC2A3):c.229G>C (p.Gly77Arg)	SLC2A3 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729179	NM_006931.3(SLC2A3):c.160C>T (p.Pro54Ser)	SLC2A3 (P54S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3164138	NM_006931.3(SLC2A3):c.155C>T (p.Ala52Val)	SLC2A3 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371277	NM_006931.3(SLC2A3):c.149G>C (p.Gly50Ala)	SLC2A3 (G50A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239485	NM_006931.3(SLC2A3):c.131A>C (p.Lys44Thr)	SLC2A3 (K44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	USP5, VAMP1 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	FOXJ2, GAPDH +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C1RL, C1S +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	A2ML1, DPPA3 +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 979952	GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3	FAM90A1, NECAP1 +12 more	Copy number gain	not provided	GLikely benign
Select item 832123	NC_000012.12:g.(?_7689858)_(8096110_?)dup	GDF3, NANOG +8 more	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	APOBEC1, ATN1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 226227	GRCh37/hg19 12p13.31(chr12:8069848-8101856)	SLC2A3	Copy number gain	Abnormal esophagus morphology	GBenign

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Items: 88