81031[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 622

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 669414	NM_030777.3(SLC2A10):c.-321C>A	SLC2A10	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 669626	NM_030777.3(SLC2A10):c.-273C>T	SLC2A10	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 338587	NM_030777.4(SLC2A10):c.-60G>T	SLC2A10	Single nucleotide variant (5 prime UTR variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 896229	NM_030777.4(SLC2A10):c.-55G>T	SLC2A10	Single nucleotide variant (5 prime UTR variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 508341	NM_030777.4(SLC2A10):c.-26dup	SLC2A10	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 139184	NM_030777.4(SLC2A10):c.-27C>T	SLC2A10	Single nucleotide variant (5 prime UTR variant)	Arterial tortuosity syndrome +1 more	GBenign
Select item 338588	NM_030777.4(SLC2A10):c.-22A>G	SLC2A10	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 583508	NC_000020.11:g.(?_46709717)_(46733854_?)del	SLC2A10	Deletion	Arterial tortuosity syndrome	GPathogenic
Select item 139185	NM_030777.4(SLC2A10):c.-15C>T	SLC2A10	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 3036380	NM_030777.4(SLC2A10):c.-10C>G	SLC2A10	Single nucleotide variant (5 prime UTR variant)	SLC2A10-related disorder	GLikely benign
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 2063252	NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)	SLC2A10 (G2S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2442965	NM_030777.4(SLC2A10):c.4+6T>A	SLC2A10	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 382501	NM_030777.4(SLC2A10):c.4+9C>G	SLC2A10	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1159163	NM_030777.4(SLC2A10):c.4+10G>A	SLC2A10	Single nucleotide variant (intron 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 2172806	NM_030777.4(SLC2A10):c.4+14G>T	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1223421	NM_030777.4(SLC2A10):c.4+228C>T	SLC2A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283392	NM_030777.4(SLC2A10):c.5-234GGAT[11]	SLC2A10	Microsatellite (intron variant)	not provided	GBenign
Select item 1270430	NM_030777.4(SLC2A10):c.5-234GGAT[9]	SLC2A10	Microsatellite (intron variant)	not provided	GBenign
Select item 1280280	NM_030777.4(SLC2A10):c.5-165GGAT[9]	SLC2A10	Microsatellite (intron variant)	not provided	GBenign
Select item 1241818	NM_030777.4(SLC2A10):c.5-165GGAT[11]	SLC2A10	Microsatellite (intron variant)	not provided	GBenign
Select item 1237574	NM_030777.4(SLC2A10):c.5-165GGAT[10]	SLC2A10	Microsatellite (intron variant)	not provided	GBenign
Select item 1212798	NM_030777.4(SLC2A10):c.5-163_5-162insCGGATGGA	SLC2A10	Insertion (intron variant)	not provided	GLikely benign
Select item 1190224	NM_030777.4(SLC2A10):c.5-135_5-131del	SLC2A10	Deletion (intron variant)	not provided	GLikely benign
Select item 676785	NM_030777.4(SLC2A10):c.5-121dup	SLC2A10	Duplication (intron variant)	not provided	GLikely benign
Select item 675389	NM_030777.4(SLC2A10):c.5-116A>G	SLC2A10	Single nucleotide variant (intron variant)	not provided	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 1609874	NM_030777.4(SLC2A10):c.5-9_5-6del	SLC2A10	Deletion (intron variant)	Arterial tortuosity syndrome	GLikely benign
Select item 758197	NM_030777.4(SLC2A10):c.5-9_5-7del	SLC2A10	Deletion (intron 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 1468303	NM_030777.4(SLC2A10):c.5-2A>G	SLC2A10	Single nucleotide variant (splice acceptor variant)	Arterial tortuosity syndrome	GLikely pathogenic
Select item 467817	NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala)	SLC2A10 (G2A)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 652465	NM_030777.4(SLC2A10):c.8A>C (p.His3Pro)	SLC2A10 (H3P)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 757800	NM_030777.4(SLC2A10):c.9C>T (p.His3=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1911562	NM_030777.4(SLC2A10):c.10del (p.Ser4fs)	SLC2A10 (S4fs)	Deletion (frameshift variant)	Arterial tortuosity syndrome	GPathogenic
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 1669049	NM_030777.4(SLC2A10):c.18T>C (p.Pro6=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 1794901	NM_030777.4(SLC2A10):c.26C>T (p.Pro9Leu)	SLC2A10 (P9L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 1911923	NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)	SLC2A10 (L16S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1743957	NM_030777.4(SLC2A10):c.48G>A (p.Leu16=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	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 2572073	NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)	SLC2A10 (L20fs)	Duplication (frameshift variant)	Arterial tortuosity syndrome	GLikely pathogenic
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 513410	NM_030777.4(SLC2A10):c.54T>C (p.Gly18=)	SLC2A10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 741534	NM_030777.4(SLC2A10):c.57C>T (p.Gly19=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 409252	NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys)	SLC2A10 (F22C)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 987899	NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)	SLC2A10 (G23S)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
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 338589	NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe)	SLC2A10 (Y24F)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
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 3228073	NM_030777.4(SLC2A10):c.88T>C (p.Ser30Pro)	SLC2A10 (S30P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 840641	NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu)	SLC2A10 (P35L)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1013453	NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg)	SLC2A10	Deletion (inframe_indel)	not provided +1 more	GUncertain significance
Select item 1552358	NM_030777.4(SLC2A10):c.114T>G (p.Leu38=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 659691	NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)	SLC2A10 (D39N)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +2 more	GUncertain significance
Select item 264055	NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser)	SLC2A10 (F40S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1258747	NM_030777.4(SLC2A10):c.120T>C (p.Phe40=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 213744	NM_030777.4(SLC2A10):c.129C>G (p.Ser43Arg)	SLC2A10 (S43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359978	NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly)	SLC2A10 (E46G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +1 more	GUncertain significance
Select item 626892	NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)	SLC2A10 (E48Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 264215	NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 213711	NM_030777.4(SLC2A10):c.145T>A (p.Phe49Ile)	SLC2A10 (F49I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 656645	NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu)	SLC2A10 (F49L)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 2442859	NM_030777.4(SLC2A10):c.152T>C (p.Val51Ala)	SLC2A10 (V51A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 1603357	NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 426396	NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe)	SLC2A10 (L55F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 492844	NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)	SLC2A10 (L55P)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 3228067	NM_030777.4(SLC2A10):c.168G>A (p.Leu56=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 947313	NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)	SLC2A10 (G57V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +2 more	GUncertain significance
Select item 896230	NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val)	SLC2A10 (A58V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 440279	NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 1780741	NM_030777.4(SLC2A10):c.181G>A (p.Ala61Thr)	SLC2A10 (A61T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2069629	NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign
Select item 467814	NM_030777.4(SLC2A10):c.189G>C (p.Leu63=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 845233	NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys)	SLC2A10 (G65C)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1783201	NM_030777.4(SLC2A10):c.194G>T (p.Gly65Val)	SLC2A10 (G65V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 681988	NM_030777.4(SLC2A10):c.195T>A (p.Gly65=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 492845	NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp)	SLC2A10 (G66D)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 1785029	NM_030777.4(SLC2A10):c.204C>T (p.Leu68=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1061319	NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr)	SLC2A10 (I69T)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +1 more	GUncertain significance
Select item 854004	NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly)	SLC2A10 (D70G)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
Select item 451482	NM_030777.4(SLC2A10):c.212G>T (p.Cys71Phe)	SLC2A10 (C71F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001321	NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp)	SLC2A10 (G73D)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
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 1399453	NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg)	SLC2A10 (K75R)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome	GUncertain significance
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 511736	NM_030777.4(SLC2A10):c.237C>A (p.Leu79=)	SLC2A10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 139169	NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)	SLC2A10	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 450591	NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg)	SLC2A10 (G80R)	Single nucleotide variant (missense variant)	SLC2A10-related disorder +2 more	GUncertain significance
Select item 4588	NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	SLC2A10 (S81R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2721545	NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome	GLikely benign

<< First< Prev

Page of 7