SLC2A14[gene] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	LOC130007176, LOC130007283 +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	FERRY3, FGD4 +4837 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 3319454	NM_001286234.2(SLC2A14):c.1486A>G (p.Asn496Asp)	SLC2A14 (N410D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164126	NM_001286234.2(SLC2A14):c.1478C>A (p.Thr493Asn)	SLC2A14 (T407N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443839	NM_001286234.2(SLC2A14):c.1371G>T (p.Arg457Ser)	SLC2A14 (R495S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443835	NM_001286234.2(SLC2A14):c.1312G>A (p.Gly438Ser)	SLC2A14 (G352S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209905	NM_001286234.2(SLC2A14):c.1219G>A (p.Gly407Ser)	SLC2A14 (G445S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443833	NM_001286234.2(SLC2A14):c.1205C>T (p.Ala402Val)	SLC2A14 (A316V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319456	NM_001286234.2(SLC2A14):c.1108G>T (p.Ala370Ser)	SLC2A14 (A393S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789446	NM_001286234.2(SLC2A14):c.1071+4A>G	SLC2A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474887	NM_001286234.2(SLC2A14):c.920A>G (p.Tyr307Cys)	SLC2A14 (Y221C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313017	NM_001286234.2(SLC2A14):c.818T>C (p.Ile273Thr)	SLC2A14 (I273T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561048	NM_001286234.2(SLC2A14):c.772G>A (p.Val258Met)	SLC2A14 (V258M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277327	NM_001286234.2(SLC2A14):c.697A>G (p.Thr233Ala)	SLC2A14 (T256A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360530	NM_001286234.2(SLC2A14):c.686G>A (p.Arg229Gln)	SLC2A14 (R252Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164130	NM_001286234.2(SLC2A14):c.674G>A (p.Arg225Gln)	SLC2A14 (R225Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164129	NM_001286234.2(SLC2A14):c.673C>T (p.Arg225Trp)	SLC2A14 (R225W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314882	NM_001286234.2(SLC2A14):c.668C>A (p.Ala223Asp)	SLC2A14 (A137D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443834	NM_001286234.2(SLC2A14):c.557C>T (p.Pro186Leu)	SLC2A14 (P209L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516687	NM_001286234.2(SLC2A14):c.487A>G (p.Ile163Val)	SLC2A14 (I201V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224294	NM_001286234.2(SLC2A14):c.472C>G (p.Leu158Val)	SLC2A14 (L196V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304569	NM_001286234.2(SLC2A14):c.445A>G (p.Thr149Ala)	SLC2A14 (T149A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164128	NM_001286234.2(SLC2A14):c.440C>T (p.Ser147Leu)	SLC2A14 (S185L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443842	NM_001286234.2(SLC2A14):c.414T>A (p.Phe138Leu)	SLC2A14 (F52L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164127	NM_001286234.2(SLC2A14):c.365T>A (p.Ile122Asn)	SLC2A14 (I36N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3443837	NM_001286234.2(SLC2A14):c.226A>G (p.Met76Val)	SLC2A14 (M99V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319453	NM_001286234.2(SLC2A14):c.184A>C (p.Asn62His)	SLC2A14 (N62H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292827	NM_001286234.2(SLC2A14):c.184A>G (p.Asn62Asp)	SLC2A14 (N85D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3443838	NM_001286234.2(SLC2A14):c.143C>T (p.Thr48Met)	SLC2A14 (T71M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482577	NM_001286234.2(SLC2A14):c.124T>C (p.Phe42Leu)	SLC2A14 (F42L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394936	NM_001286234.2(SLC2A14):c.110C>T (p.Thr37Met)	SLC2A14 (R5W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3443836	NM_001286234.2(SLC2A14):c.106G>A (p.Glu36Lys)	SLC2A14 (E74K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319455	NM_001286234.2(SLC2A14):c.103C>T (p.Pro35Ser)	SLC2A14 (P58S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3443840	NM_001286234.2(SLC2A14):c.68T>C (p.Phe23Ser)	SLC2A14 (F61S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	SLC2A14, SLC2A3 +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 3391851	GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
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	PHC1, PIANP +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	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +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	C1RL, C1S +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	C3AR1, CLEC4C +8 more	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +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 685572	GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1	APOBEC1, CLEC4C +5 more	Copy number loss	not provided	GUncertain significance
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	SLCO1B1, SMCO3 +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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	GALNT8, H2AJ +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 221847	GRCh37/hg19 12p13.31(chr12:7895024-8014573)x3	CLEC4C, NANOG +2 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 93