ClinVar for MedGen (Select 501176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064444	NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)	SLC2A2 (R158S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GLikely pathogenic
Select item 3007897	NM_000340.2(SLC2A2):c.492T>C (p.Tyr164=)	SLC2A2	Single nucleotide variant (synonymous variant +1 more)	Fanconi-Bickel syndrome	GLikely benign
Select item 3004249	NM_000340.2(SLC2A2):c.1158A>T (p.Gly386=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2993262	NM_000340.2(SLC2A2):c.612+7del	SLC2A2	Deletion (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2971777	NM_000340.2(SLC2A2):c.594G>C (p.Thr198=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2957166	NM_000340.2(SLC2A2):c.1440A>G (p.Thr480=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2919488	NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)	SLC2A2 (S318T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2914072	NM_000340.2(SLC2A2):c.1329T>C (p.Asn443=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2885369	NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2880312	NM_000340.2(SLC2A2):c.1470G>A (p.Lys490=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2851843	NM_000340.2(SLC2A2):c.16-12C>T	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2838493	NM_000340.2(SLC2A2):c.1161T>C (p.Leu387=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2832588	NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)	SLC2A2 (Y291* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome	GPathogenic
Select item 2825956	NM_000340.2(SLC2A2):c.613-7T>C	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2815922	NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)	SLC2A2 (W222fs +2 more)	Deletion (frameshift variant)	Fanconi-Bickel syndrome	GPathogenic
Select item 2812923	NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)	SLC2A2 (P298Q +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2743130	NM_000340.2(SLC2A2):c.776-8T>C	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2736018	NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2734588	NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)	SLC2A2 (G119R)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2714913	NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACA	SLC2A2	Microsatellite (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2585545	NM_000340.2(SLC2A2):c.496+2T>A	SLC2A2	Single nucleotide variant (splice donor variant +1 more)	Fanconi-Bickel syndrome	GLikely pathogenic
Select item 2577276	NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)	SLC2A2 (G20D)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi-Bickel syndrome	GLikely pathogenic
Select item 2572454	NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)	SLC2A2 (G162fs +1 more)	Duplication (frameshift variant +1 more)	Fanconi-Bickel syndrome	GPathogenic
Select item 2436012	NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)	SLC2A2 (Y164del +1 more)	Deletion (inframe_deletion +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2422929	NC_000003.11:g.(?_170732238)_(170732540_?)del	SLC2A2	Deletion	Fanconi-Bickel syndrome	GPathogenic
Select item 2415822	NM_000340.2(SLC2A2):c.1432C>T (p.Leu478=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2201236	NM_000340.2(SLC2A2):c.964-15G>A	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2191333	NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)	SLC2A2 (I283T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2190444	NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)	SLC2A2 (A497V +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2188793	NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)	SLC2A2 (I262N +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2183624	NM_000340.2(SLC2A2):c.609T>C (p.Ser203=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2182721	NM_000340.2(SLC2A2):c.220A>G (p.Met74Val)	SLC2A2 (M74V)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2179819	NM_000340.2(SLC2A2):c.100C>A (p.Pro34Thr)	SLC2A2 (H2Q +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2173289	NM_000340.2(SLC2A2):c.415G>A (p.Ala139Thr)	SLC2A2 (A20T +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2172957	NM_000340.2(SLC2A2):c.872T>A (p.Ile291Lys)	SLC2A2 (I172K +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2167777	NM_000340.2(SLC2A2):c.775+19T>C	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2167129	NM_000340.2(SLC2A2):c.963+20C>T	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2165079	NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)	SLC2A2 (L132P +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2156011	NM_000340.2(SLC2A2):c.496+6T>A	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2153218	NM_000340.2(SLC2A2):c.748T>C (p.Leu250=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2147530	NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)	SLC2A2 (L468R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2132662	NM_000340.2(SLC2A2):c.881T>A (p.Leu294His)	SLC2A2 (L175H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2083468	NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)	SLC2A2 (V45D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2078372	NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)	SLC2A2 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2077185	NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)	SLC2A2 (D65E)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2075800	NM_000340.2(SLC2A2):c.1374+7A>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2072880	NM_000340.2(SLC2A2):c.20C>A (p.Thr7Asn)	SLC2A2 (T7N)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome +1 more	GUncertain significance
Select item 2067723	NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)	SLC2A2 (G177S +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2062458	NM_000340.2(SLC2A2):c.372-20del	SLC2A2	Deletion (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2055791	NM_000340.2(SLC2A2):c.108+16A>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2045779	NM_000340.2(SLC2A2):c.1506G>A (p.Lys502=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2044590	NM_000340.2(SLC2A2):c.409G>C (p.Val137Leu)	SLC2A2 (V18L +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2031083	NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACACACACACA	SLC2A2	Microsatellite (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2030812	NM_000340.2(SLC2A2):c.1171-7del	SLC2A2	Deletion (intron variant)	Fanconi-Bickel syndrome	GBenign
Select item 2013382	NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)	SLC2A2 (S42L +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2009854	NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)	SLC2A2 (V250L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2003024	NM_000340.2(SLC2A2):c.1068+7C>T	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2001143	NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)	SLC2A2 (N391S +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1992273	NM_000340.2(SLC2A2):c.1068+15T>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1990982	NM_000340.2(SLC2A2):c.576T>C (p.His192=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1987297	NM_000340.2(SLC2A2):c.267T>A (p.Ala89=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	Fanconi-Bickel syndrome	GLikely benign
Select item 1983261	NM_000340.2(SLC2A2):c.902G>T (p.Arg301Leu)	SLC2A2 (R301L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1982934	NM_000340.2(SLC2A2):c.733T>C (p.Tyr245His)	SLC2A2 (Y126H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1972557	NM_000340.2(SLC2A2):c.996G>A (p.Thr332=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1965955	NM_000340.2(SLC2A2):c.315A>G (p.Ala105=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	Fanconi-Bickel syndrome	GLikely benign
Select item 1959384	NM_000340.2(SLC2A2):c.1194T>C (p.Tyr398=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1957960	NM_000340.2(SLC2A2):c.753T>C (p.Asp251=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1949144	NM_000340.2(SLC2A2):c.226C>G (p.Pro76Ala)	SLC2A2 (P76A)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1945152	NM_000340.2(SLC2A2):c.16-20C>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1944977	NM_000340.2(SLC2A2):c.130C>T (p.His44Tyr)	SLC2A2 (H44Y)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1934392	NM_000340.2(SLC2A2):c.739T>C (p.Tyr247His)	SLC2A2 (Y128H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1933489	NM_000340.2(SLC2A2):c.1375-20T>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1914614	NM_000340.2(SLC2A2):c.73G>A (p.Gly25Arg)	SLC2A2 (G25R)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1912799	NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1912310	NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)	SLC2A2 (V277A +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1903677	NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)	SLC2A2 (A285V +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1896238	NM_000340.2(SLC2A2):c.833A>C (p.Lys278Thr)	SLC2A2 (K105T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1717847	NM_000340.2(SLC2A2):c.841G>A (p.Glu281Lys)	SLC2A2 (E108K +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1693879	NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)	SLC2A2 (R109Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1687276	NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter)	SLC2A2 (W117*)	Single nucleotide variant (nonsense +2 more)	Fanconi-Bickel syndrome	GPathogenic
Select item 1686207	NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)	SLC2A2 (R109* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome +1 more	GPathogenic
Select item 1664024	NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	Fanconi-Bickel syndrome	GBenign
Select item 1646128	NM_000340.2(SLC2A2):c.499C>T (p.Leu167=)	SLC2A2	Single nucleotide variant (synonymous variant +1 more)	Fanconi-Bickel syndrome	GLikely benign
Select item 1630325	NM_000340.2(SLC2A2):c.371+19T>C	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 1605631	NM_000340.2(SLC2A2):c.108+20G>A	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1577713	NM_000340.2(SLC2A2):c.1560T>C (p.Ala520=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1567110	NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACA	SLC2A2	Microsatellite (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1513536	NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu)	SLC2A2 (P260L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1513436	NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr)	SLC2A2 (A14T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1502077	NM_000340.2(SLC2A2):c.1373_1374+2dup	SLC2A2	Duplication (splice donor variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1493313	NM_000340.2(SLC2A2):c.80A>T (p.Asp27Val)	SLC2A2 (D27V)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1475879	NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg)	SLC2A2 (S224R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1451164	NM_000340.2(SLC2A2):c.1170+1G>T	SLC2A2	Single nucleotide variant (splice donor variant)	Fanconi-Bickel syndrome	GPathogenic
Select item 1439972	NM_000340.2(SLC2A2):c.1097G>A (p.Arg366His)	SLC2A2 (R193H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1438961	NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg)	SLC2A2 (K488R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1434311	NC_000003.11:g.(?_170727727)_(170727891_?)del	SLC2A2	Deletion	Fanconi-Bickel syndrome	GPathogenic
Select item 1410989	NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys)	SLC2A2 (G20C)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1400896	NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)	SLC2A2	Deletion (inframe_deletion +1 more)	Fanconi-Bickel syndrome +1 more	GUncertain significance
Select item 1400043	NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu)	SLC2A2 (F398L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance

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