2216[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2497929	NM_005202.4(COL8A2):c.*90C>A	COL8A2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1328777	NM_005202.4(COL8A2):c.*13dup	COL8A2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1238973	NM_005202.4(COL8A2):c.*12G>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy, Fuchs endothelial, 1 +2 more	GBenign
Select item 3038139	NM_005202.4(COL8A2):c.*5C>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	COL8A2-related disorder	GLikely benign
Select item 3044090	NM_005202.4(COL8A2):c.*3C>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	COL8A2-related disorder	GLikely benign
Select item 2739280	NM_005202.4(COL8A2):c.2095T>C (p.Leu699=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045773	NM_005202.4(COL8A2):c.2053C>T (p.Leu685Phe)	COL8A2 (L685F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474937	NM_005202.4(COL8A2):c.2003G>A (p.Arg668Gln)	COL8A2 (R603Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147824	NM_005202.4(COL8A2):c.2002C>T (p.Arg668Trp)	COL8A2 (R603W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603078	NM_005202.4(COL8A2):c.1961G>A (p.Gly654Asp)	COL8A2 (G654D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717328	NM_005202.4(COL8A2):c.1882G>A (p.Val628Ile)	COL8A2 (V628I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1048810	NM_005202.4(COL8A2):c.1876G>T (p.Val626Leu)	COL8A2 (V561L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147823	NM_005202.4(COL8A2):c.1855G>A (p.Val619Ile)	COL8A2 (V554I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147822	NM_005202.4(COL8A2):c.1843C>A (p.Pro615Thr)	COL8A2 (P550T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973552	NM_005202.4(COL8A2):c.1836C>T (p.Phe612=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147821	NM_005202.4(COL8A2):c.1810G>A (p.Gly604Ser)	COL8A2 (G539S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056684	NM_005202.4(COL8A2):c.1809C>T (p.Ser603=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888150	NM_005202.4(COL8A2):c.1802G>C (p.Gly601Ala)	COL8A2 (G536A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2254140	NM_005202.4(COL8A2):c.1759G>A (p.Ala587Thr)	COL8A2 (A587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1258933	NM_005202.4(COL8A2):c.1758C>T (p.Pro586=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771113	NM_005202.4(COL8A2):c.1746C>T (p.Thr582=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1536255	NM_005202.4(COL8A2):c.1724C>T (p.Pro575Leu)	COL8A2 (P510L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2990438	NM_005202.4(COL8A2):c.1702G>A (p.Glu568Lys)	COL8A2 (E503K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533975	NM_005202.4(COL8A2):c.1699G>A (p.Gly567Ser)	COL8A2 (G502S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3268869	NM_005202.4(COL8A2):c.1676G>A (p.Gly559Glu)	COL8A2 (G559E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037037	NM_005202.4(COL8A2):c.1662C>T (p.Ala554=)	COL8A2	Single nucleotide variant (synonymous variant)	COL8A2-related disorder	GLikely benign
Select item 2238537	NM_005202.4(COL8A2):c.1660G>A (p.Ala554Thr)	COL8A2 (A554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147820	NM_005202.4(COL8A2):c.1654G>A (p.Glu552Lys)	COL8A2 (E487K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319665	NM_005202.4(COL8A2):c.1651G>A (p.Val551Met)	COL8A2 (V486M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1988486	NM_005202.4(COL8A2):c.1648G>A (p.Gly550Ser)	COL8A2 (G550S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355266	NM_005202.4(COL8A2):c.1645G>A (p.Gly549Ser)	COL8A2 (G484S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2406239	NM_005202.4(COL8A2):c.1589C>A (p.Pro530His)	COL8A2 (P465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228444	NM_005202.4(COL8A2):c.1586C>A (p.Pro529His)	COL8A2 (P464H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400390	NM_005202.4(COL8A2):c.1580C>A (p.Pro527Gln)	COL8A2 (P527Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598926	NM_005202.4(COL8A2):c.1576C>T (p.Pro526Ser)	COL8A2 (P526S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2082483	NM_005202.4(COL8A2):c.1557_1565del (p.520PPG[3])	COL8A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2303248	NM_005202.4(COL8A2):c.1553C>T (p.Thr518Met)	COL8A2 (T518M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514644	NM_005202.4(COL8A2):c.1517C>T (p.Thr506Met)	COL8A2 (T441M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287683	NM_005202.4(COL8A2):c.1505C>T (p.Thr502Met)	COL8A2 (T437M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2600846	NM_005202.4(COL8A2):c.1487G>A (p.Arg496Lys)	COL8A2 (R496K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1230934	NM_005202.4(COL8A2):c.1485G>A (p.Gly495=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3362714	NM_005202.4(COL8A2):c.1484G>T (p.Gly495Val)	COL8A2 (G430V +1 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 1	GUncertain significance
Select item 167868	NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)	COL8A2 (Q455V +1 more)	Indel (missense variant)	Corneal dystrophy, Fuchs endothelial, 1	GPathogenic
Select item 17147	NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)	COL8A2 (Q455K +1 more)	Single nucleotide variant (missense variant)	Posterior polymorphous corneal dystrophy 2 +1 more	GPathogenic
Select item 17148	NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)	COL8A2 (L450W +1 more)	Single nucleotide variant (missense variant)	Posterior polymorphous corneal dystrophy 2 +1 more	GPathogenic
Select item 1474301	NM_005202.4(COL8A2):c.1328C>T (p.Ala443Val)	COL8A2 (A378V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599098	NM_005202.4(COL8A2):c.1323A>G (p.Ala441=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1146060	NM_005202.4(COL8A2):c.1301G>A (p.Arg434His)	COL8A2 (R369H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3147818	NM_005202.4(COL8A2):c.1300C>T (p.Arg434Cys)	COL8A2 (R434C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147817	NM_005202.4(COL8A2):c.1297G>A (p.Gly433Ser)	COL8A2 (G368S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554794	NM_005202.4(COL8A2):c.1286C>A (p.Pro429Gln)	COL8A2 (P364Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1494266	NM_005202.4(COL8A2):c.1280G>T (p.Gly427Val)	COL8A2 (G362V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302231	NM_005202.4(COL8A2):c.1276A>C (p.Lys426Gln)	COL8A2 (K361Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147816	NM_005202.4(COL8A2):c.1255C>T (p.Pro419Ser)	COL8A2 (P419S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256325	NM_005202.4(COL8A2):c.1249C>T (p.His417Tyr)	COL8A2 (H352Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570407	NM_005202.4(COL8A2):c.1223C>T (p.Pro408Leu)	COL8A2 (P408L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613976	NM_005202.4(COL8A2):c.1165G>A (p.Val389Met)	COL8A2 (V389M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2903902	NM_005202.4(COL8A2):c.1156C>A (p.Pro386Thr)	COL8A2 (P321T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638667	NM_005202.4(COL8A2):c.1151G>A (p.Gly384Glu)	COL8A2 (G319E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536953	NM_005202.4(COL8A2):c.1140G>C (p.Glu380Asp)	COL8A2 (E380D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1186921	NM_005202.4(COL8A2):c.1137T>C (p.Gly379=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2269162	NM_005202.4(COL8A2):c.1114C>T (p.Arg372Cys)	COL8A2 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2777709	NM_005202.4(COL8A2):c.1084C>T (p.Leu362Phe)	COL8A2 (L297F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034551	NM_005202.4(COL8A2):c.1069G>C (p.Gly357Arg)	COL8A2 (G292R +1 more)	Single nucleotide variant (missense variant)	COL8A2-related disorder	GLikely benign
Select item 2745885	NM_005202.4(COL8A2):c.1057C>T (p.Pro353Ser)	COL8A2 (P288S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229188	NM_005202.4(COL8A2):c.1005C>G (p.Leu335=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2607152	NM_005202.4(COL8A2):c.1004T>C (p.Leu335Pro)	COL8A2 (L335P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279669	NM_005202.4(COL8A2):c.968C>T (p.Pro323Leu)	COL8A2 (P258L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268870	NM_005202.4(COL8A2):c.961C>A (p.Pro321Thr)	COL8A2 (P256T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390723	NM_005202.4(COL8A2):c.835G>A (p.Gly279Ser)	COL8A2 (G279S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147828	NM_005202.4(COL8A2):c.814A>C (p.Lys272Gln)	COL8A2 (K272Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785936	NM_005202.4(COL8A2):c.807G>A (p.Val269=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3268871	NM_005202.4(COL8A2):c.805G>C (p.Val269Leu)	COL8A2 (V269L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3268867	NM_005202.4(COL8A2):c.789G>C (p.Arg263Ser)	COL8A2 (R198S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719935	NM_005202.4(COL8A2):c.743del (p.Pro248fs)	COL8A2 (P183fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1705134	NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser)	COL8A2 (P162S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2848267	NM_005202.4(COL8A2):c.660G>A (p.Gly220=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724661	NM_005202.4(COL8A2):c.639C>T (p.Pro213=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231632	NM_005202.4(COL8A2):c.629T>G (p.Val210Gly)	COL8A2 (V145G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554155	NM_005202.4(COL8A2):c.605G>A (p.Arg202Gln)	COL8A2 (R137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2119471	NM_005202.4(COL8A2):c.565G>C (p.Glu189Gln)	COL8A2 (E124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474655	NM_005202.4(COL8A2):c.511A>G (p.Ile171Val)	COL8A2 (I106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1248559	NM_005202.4(COL8A2):c.464G>A (p.Arg155Gln)	COL8A2 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1910194	NM_005202.4(COL8A2):c.446G>A (p.Arg149Gln)	COL8A2 (R84Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365911	NM_005202.4(COL8A2):c.427C>T (p.Arg143Trp)	COL8A2 (R143W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325102	NM_005202.4(COL8A2):c.424C>T (p.Leu142Phe)	COL8A2 (L77F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2720189	NM_005202.4(COL8A2):c.402C>T (p.Val134=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147826	NM_005202.4(COL8A2):c.388C>T (p.Leu130Phe)	COL8A2 (L130F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599957	NM_005202.4(COL8A2):c.297A>G (p.Lys99=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2632207	NM_005202.4(COL8A2):c.281dup (p.Gly95fs)	COL8A2 (G30fs +1 more)	Duplication (frameshift variant)	COL8A2-related disorder	GUncertain significance
Select item 2286056	NM_005202.4(COL8A2):c.262C>T (p.Arg88Trp)	COL8A2 (R23W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515194	NM_005202.4(COL8A2):c.215C>T (p.Pro72Leu)	COL8A2 (P72L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147825	NM_005202.4(COL8A2):c.206C>T (p.Pro69Leu)	COL8A2 (P4L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1601585	NM_005202.4(COL8A2):c.194-7_194-4del	COL8A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1640745	NM_005202.4(COL8A2):c.194-10T>C	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233636	NM_005202.4(COL8A2):c.194-87C>T	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249796	NM_005202.4(COL8A2):c.194-274A>G	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2