ClinVar for MedGen (Select 347942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018625	NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2983016	NM_030777.4(SLC2A10):c.289del (p.Ser97fs)	SLC2A10 (S97fs)	Deletion (frameshift variant)	Arterial tortuosity syndrome	GPathogenic
Select item 2978398	NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2921113	NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)	SLC2A10 (C119Y)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2917813	NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2916340	NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2909249	NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)	SLC2A10 (V28I)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2905799	NM_030777.4(SLC2A10):c.1288+19C>T	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2895456	NM_030777.4(SLC2A10):c.1547+14del	SLC2A10	Deletion (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2881192	NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2871426	NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2862391	NM_030777.4(SLC2A10):c.5-7T>G	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2810415	NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2804113	NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2780840	NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2761376	NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)	SLC2A10	Indel (inframe_indel)	Arterial tortuosity syndrome	GPathogenic
Select item 2753776	NM_030777.4(SLC2A10):c.192T>G (p.Val64=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2753287	NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2750114	NM_030777.4(SLC2A10):c.4+14G>C	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2749301	NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2748407	NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2747604	NM_030777.4(SLC2A10):c.1411+16A>G	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2737996	NM_030777.4(SLC2A10):c.1547+17dup	SLC2A10	Duplication (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2724472	NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2721545	NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2704316	NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2698377	NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2572075	NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)	SLC2A10 (G23V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GLikely pathogenic
Select item 2572073	NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)	SLC2A10 (L20fs)	Duplication (frameshift variant)	Arterial tortuosity syndrome	GLikely pathogenic
Select item 2506061	NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +2 more	GLikely benign
Select item 2501291	NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)	SLC2A10 (L300W)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GLikely pathogenic
Select item 2449183	NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 2428210	NM_030777.4(SLC2A10):c.252G>C (p.Val84=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2426942	NC_000020.10:g.(?_45357972)_(45358147_?)del	SLC2A10	Deletion	Arterial tortuosity syndrome	GPathogenic
Select item 2414896	NM_030777.4(SLC2A10):c.1548-9G>C	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2196714	NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)	SLC2A10 (A302G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2193284	NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)	SLC2A10 (A449T)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2192070	NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2191224	NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)	SLC2A10 (P211R)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2183529	NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)	SLC2A10 (I530V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2176692	NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2174745	NM_030777.4(SLC2A10):c.1289-18C>G	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2172806	NM_030777.4(SLC2A10):c.4+14G>T	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2172356	NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)	SLC2A10 (A111T)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2172204	NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)	SLC2A10 (P398S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2166374	NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)	SLC2A10 (Q247K)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2162307	NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)	SLC2A10 (Q338K)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2161706	NM_030777.4(SLC2A10):c.1288+20A>G	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2139519	NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2132122	NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)	SLC2A10 (P378A)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2117429	NM_030777.4(SLC2A10):c.1289-2A>G	SLC2A10	Single nucleotide variant (splice acceptor variant)	Arterial tortuosity syndrome	GLikely pathogenic
Select item 2103140	NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)	SLC2A10 (G326D)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2093316	NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)	SLC2A10 (S124P)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2085897	NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2084039	NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2079423	NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2069629	NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2063252	NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)	SLC2A10 (G2S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2049674	NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2046125	NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2039098	NM_030777.4(SLC2A10):c.1288+9A>C	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 2032248	NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)	SLC2A10 (R388W)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2017946	NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)	SLC2A10 (P327T)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2017181	NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)	SLC2A10 (M1V)	Single nucleotide variant (missense variant +1 more)	Arterial tortuosity syndrome	GConflicting classifications of pathogenicity
Select item 2011869	NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)	SLC2A10 (G483E)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1979023	NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 1978232	NM_030777.4(SLC2A10):c.1547+16G>C	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1975919	NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)	SLC2A10 (G529A)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1974954	NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)	SLC2A10 (T431I)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1956792	NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)	SLC2A10 (A99V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1955174	NM_030777.4(SLC2A10):c.1289-3T>G	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1945928	NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1933321	NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)	SLC2A10 (G471D)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1913218	NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)	SLC2A10 (G93V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1912758	NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)	SLC2A10 (A32G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1911923	NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)	SLC2A10 (L16S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1911562	NM_030777.4(SLC2A10):c.10del (p.Ser4fs)	SLC2A10 (S4fs)	Deletion (frameshift variant)	Arterial tortuosity syndrome	GPathogenic
Select item 1910911	NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1774812	NM_030777.4(SLC2A10):c.153G>A (p.Val51=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1771852	NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)	SLC2A10 (D468G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +1 more	GUncertain significance
Select item 1769984	NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)	SLC2A10 (E442G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +1 more	GUncertain significance
Select item 1762255	NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1756501	NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 1755279	NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 1718957	NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)	SLC2A10 (I470F)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1699246	NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn)	SLC2A10 (T284N)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1671626	NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1669049	NM_030777.4(SLC2A10):c.18T>C (p.Pro6=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1654657	NM_030777.4(SLC2A10):c.615G>A (p.Glu205=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1638662	NM_030777.4(SLC2A10):c.5-18C>T	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1630289	NM_030777.4(SLC2A10):c.1411+12C>T	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1625487	NM_030777.4(SLC2A10):c.816C>T (p.Ala272=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1624806	NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1613576	NM_030777.4(SLC2A10):c.861C>G (p.Ala287=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 1611034	NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1609874	NM_030777.4(SLC2A10):c.5-9_5-6del	SLC2A10	Deletion (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1608524	NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1605993	NM_030777.4(SLC2A10):c.897G>A (p.Leu299=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1603971	NM_030777.4(SLC2A10):c.411C>T (p.Ser137=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1603357	NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign

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