3858[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1180230	NM_000421.5(KRT10):c.*116A>G	KRT10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1286761	NM_000421.5(KRT10):c.*65A>G	KRT10 (M614V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283470	NM_000421.5(KRT10):c.*42C>T	KRT10 (P606L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2500052	NM_000421.5(KRT10):c.1749-10A>G	KRT10	Single nucleotide variant (intron variant)	Epidermolytic ichthyosis +3 more	GLikely benign
Select item 2787839	NM_000421.5(KRT10):c.1749-16dup	KRT10	Duplication (intron variant)	not provided	GBenign
Select item 2977634	NM_000421.5(KRT10):c.1749-16del	KRT10	Deletion (intron variant)	not provided	GBenign
Select item 1598575	NM_000421.5(KRT10):c.1724G>T (p.Gly575Val)	KRT10 (G575V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2356661	NM_000421.5(KRT10):c.1703C>T (p.Ser568Phe)	KRT10 (S568F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984059	NM_000421.5(KRT10):c.1687_1688delinsCC (p.Ser563Pro)	KRT10 (S563P)	Indel (missense variant)	not provided	GUncertain significance
Select item 1319423	NM_000421.5(KRT10):c.1681_1683dup (p.Ser563dup)	KRT10	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1049274	NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3])	KRT10	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 516735	NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup)	KRT10	Duplication (inframe_insertion)	Epidermolytic ichthyosis +4 more	GBenign/Likely benign
Select item 420788	NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[4] (p.556GYGGGSSSGG[4])	KRT10	Microsatellite (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2151211	NM_000421.5(KRT10):c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG (p.Gly558_Gly559insAlaGlySerSerSerGlyGlyGlyTyrGly)	KRT10	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1440080	NM_000421.5(KRT10):c.1650_1667del (p.Ser551_Gly556del)	KRT10	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1541400	NM_000421.5(KRT10):c.1651AGC[3] (p.Ser553dup)	KRT10	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1291201	NM_000421.5(KRT10):c.1654_1655insAGCTCCGGCGGCGGATACGGCGGCGGCAGC (p.Ser552delinsLysLeuArgArgArgIleArgArgArgGlnArg)	KRT10	Insertion (inframe_indel)	not provided	GBenign
Select item 808260	NM_000421.5(KRT10):c.1639_1653dup (p.543GGGSS[3])	KRT10	Duplication (inframe_insertion)	not provided	GBenign/Likely benign
Select item 3053465	NM_000421.5(KRT10):c.1629_1643del (p.543GGGSS[1])	KRT10	Deletion	KRT10-related disorder	GBenign
Select item 1601794	NM_000421.5(KRT10):c.1640C>A (p.Ser547Tyr)	KRT10 (S547Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 512647	NM_000421.3(KRT10):c.1624_1640del17ins20 (p.?)	KRT10	Indel	not specified	GLikely benign
Select item 1191794	NM_000421.5(KRT10):c.1638C>A (p.Ser546Arg)	KRT10 (S546R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1223538	NM_000421.5(KRT10):c.1636A>G (p.Ser546Gly)	KRT10 (S546G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1940497	NM_000421.5(KRT10):c.1634G>A (p.Gly545Asp)	KRT10 (G545D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335270	NM_000421.5(KRT10):c.1632C>A (p.Gly544=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1569698	NM_000421.5(KRT10):c.1629G>C (p.Gly543=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043890	NM_000421.5(KRT10):c.1625A>C (p.Tyr542Ser)	KRT10 (Y542S)	Single nucleotide variant (missense variant)	KRT10-related disorder	GBenign
Select item 1512817	NM_000421.5(KRT10):c.1606GGC[7] (p.Gly541dup)	KRT10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3060207	NM_000421.5(KRT10):c.1606GGC[5] (p.Gly541del)	KRT10 (G541del)	Microsatellite	KRT10-related disorder	GBenign
Select item 3056687	NM_000421.5(KRT10):c.1623C>A (p.Gly541=)	KRT10	Single nucleotide variant (synonymous variant)	KRT10-related disorder	GLikely benign
Select item 3052674	NM_000421.5(KRT10):c.1606GGC[3] (p.Gly539_Gly541del)	KRT10	Microsatellite	KRT10-related disorder	GBenign
Select item 2259326	NM_000421.5(KRT10):c.1622G>T (p.Gly541Val)	KRT10 (G541V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1649350	NM_000421.5(KRT10):c.1617C>T (p.Gly539=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596294	NM_000421.5(KRT10):c.1597G>A (p.Gly533Ser)	KRT10 (G533S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1562198	NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup)	KRT10	Duplication (inframe_insertion)	not provided	GBenign
Select item 1558650	NM_000421.5(KRT10):c.1593T>G (p.Gly531=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1695527	NM_000421.5(KRT10):c.1588T>C (p.Tyr530His)	KRT10 (Y530H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059575	NM_000421.5(KRT10):c.1564_1587del (p.His522_Gly529del)	KRT10	Deletion (inframe_deletion)	not provided	GBenign
Select item 2987077	NM_000421.5(KRT10):c.1546GGAAGCTCCAGCGGCGGCCACGGCGGC[3] (p.Gly524_Ser525insGlySerSerSerGlyGlyHisGlyGlyGlySerSerSerGlyGlyHisGlyGly)	KRT10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 770266	NM_000421.5(KRT10):c.1546_1572dup (p.Gly516_Gly524dup)	KRT10	Duplication (inframe_insertion)	not provided	GBenign
Select item 14584	NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs)	KRT10 (G521fs)	Deletion (frameshift variant)	Congenital reticular ichthyosiform erythroderma	GPathogenic
Select item 2647747	NM_000421.5(KRT10):c.1560C>T (p.Gly520=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647748	NM_000421.5(KRT10):c.1559G>T (p.Gly520Val)	KRT10 (G520V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766969	NM_000421.5(KRT10):c.1528_1554dup (p.Ser518_Ser519insGlyGlyGlyTyrGlyGlyGlySerSer)	KRT10	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 66169	NM_000421.5(KRT10):c.1546_1551delinsT (p.Gly516fs)	KRT10 (G516fs)	Indel (frameshift variant)	not provided	Gnot provided
Select item 2525404	NM_000421.5(KRT10):c.1547G>A (p.Gly516Glu)	KRT10 (G516E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352750	NM_000421.5(KRT10):c.1542G>C (p.Gly514=)	KRT10	Single nucleotide variant (synonymous variant)	KRT10-related disorder	GLikely benign
Select item 3116305	NM_000421.5(KRT10):c.1541G>C (p.Gly514Ala)	KRT10 (G514A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116304	NM_000421.5(KRT10):c.1541G>A (p.Gly514Glu)	KRT10 (G514E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356746	NM_000421.5(KRT10):c.1537T>C (p.Tyr513His)	KRT10 (Y513H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1583376	NM_000421.5(KRT10):c.1528GGC[4] (p.Gly512dup)	KRT10	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2714751	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[4] (p.Gly512_Tyr513insSerSerGlyGlyGlySerSerGlyGlyGly)	KRT10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2185618	NM_000421.5(KRT10):c.1536C>T (p.Gly512=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047075	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[3] (p.Gly512_Tyr513insSerSerGlyGlyGly)	KRT10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1178278	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[1] (p.503SSGGG[1])	KRT10	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3041949	NM_000421.5(KRT10):c.1528G>A (p.Gly510Ser)	KRT10 (G510S)	Single nucleotide variant (missense variant)	KRT10-related disorder	GLikely benign
Select item 1600527	NM_000421.5(KRT10):c.1524C>G (p.Ser508Arg)	KRT10 (S508R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1581336	NM_000421.5(KRT10):c.1520_1521insCTACGGGGGCGG (p.Gly507_Ser508insTyrGlyGlyGly)	KRT10	Insertion (inframe_insertion)	not provided	GBenign
Select item 2912151	NM_000421.5(KRT10):c.1500A>C (p.Gly500=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054668	NM_000421.5(KRT10):c.1495T>C (p.Tyr499His)	KRT10 (Y499H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3055364	NM_000421.5(KRT10):c.1459_1494del (p.His487_Gly498del)	KRT10	Deletion	KRT10-related disorder	GLikely benign
Select item 2887035	NM_000421.5(KRT10):c.1488C>A (p.Gly496=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702600	NM_000421.5(KRT10):c.1482T>C (p.Ser494=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769433	NM_000421.5(KRT10):c.1456GGCCACGGCGGC[1] (p.486GHGG[1])	KRT10	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3289329	NM_000421.5(KRT10):c.1477G>A (p.Gly493Ser)	KRT10 (G493S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965448	NM_000421.5(KRT10):c.1476C>A (p.Gly492=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289330	NM_000421.5(KRT10):c.1471C>T (p.His491Tyr)	KRT10 (H491Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2887036	NM_000421.5(KRT10):c.1470C>T (p.Gly490=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261172	NM_000421.5(KRT10):c.1469G>C (p.Gly490Ala)	KRT10 (G490A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387533	NM_000421.5(KRT10):c.1468G>C (p.Gly490Arg)	KRT10 (G490R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599263	NM_000421.5(KRT10):c.1468G>A (p.Gly490Ser)	KRT10 (G490S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2897317	NM_000421.5(KRT10):c.1459_1460delinsTC (p.His487Ser)	KRT10 (H487S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2155917	NM_000421.5(KRT10):c.1460A>G (p.His487Arg)	KRT10 (H487R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175088	NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs)	KRT10 (H487fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 680426	NM_000421.5(KRT10):c.1458_1460delinsAAGCTC (p.His487delinsSerSer)	KRT10	Indel (inframe_indel)	not provided	GLikely benign
Select item 3049296	NM_000421.5(KRT10):c.1448_1459del (p.Ser483_His487delinsTyr)	KRT10	Deletion (inframe_indel)	KRT10-related disorder	GLikely benign
Select item 1300082	NM_000421.5(KRT10):c.1459C>T (p.His487Tyr)	KRT10 (H487Y)	Single nucleotide variant (missense variant)	Congenital reticular ichthyosiform erythroderma +3 more	GBenign
Select item 671039	NM_000421.5(KRT10):c.1458_1459delinsAAGCTCCGGCGGTGGCT (p.His487delinsSerSerGlyGlyGlyTyr)	KRT10	Indel (inframe_indel)	not provided	GLikely benign
Select item 510707	NM_000421.5(KRT10):c.1443_1459delinsCT (p.Ser482_His487delinsTyr)	KRT10	Indel (inframe_indel)	not specified	GLikely benign
Select item 508024	NM_000421.3(KRT10):c.1458_1459delCCins17 (p.?)	KRT10	Indel	not specified	GLikely benign
Select item 1175680	NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs)	KRT10 (H487fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 509767	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[4] (p.477SSGGG[4])	KRT10	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 509055	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[3] (p.477SSGGG[3])	KRT10	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 1374060	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[1] (p.477SSGGG[1])	KRT10	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 66168	NM_000421.5(KRT10):c.1450_1451insC (p.Gly484fs)	KRT10 (G484fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 14583	NM_000421.5(KRT10):c.1449dup (p.Gly484fs)	KRT10 (G484fs)	Duplication (frameshift variant)	Congenital reticular ichthyosiform erythroderma	GPathogenic
Select item 2717357	NM_000421.5(KRT10):c.1448C>A (p.Ser483Tyr)	KRT10 (S483Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050459	NM_000421.5(KRT10):c.1443_1445del (p.Ser483del)	KRT10 (S483del)	Deletion	KRT10-related disorder	GLikely benign
Select item 2959531	NM_000421.5(KRT10):c.1422C>A (p.Gly474=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048369	NM_000421.5(KRT10):c.1418A>C (p.Tyr473Ser)	KRT10 (Y473S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2983785	NM_000421.5(KRT10):c.1399_1416dup (p.Gly472_Tyr473insGlySerPheGlyGlyGly)	KRT10	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1236191	NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs)	KRT10 (S468fs)	Indel (frameshift variant)	Congenital reticular ichthyosiform erythroderma	GPathogenic
Select item 1255037	NM_000421.5(KRT10):c.1413C>A (p.Gly471=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2994501	NM_000421.5(KRT10):c.1407C>T (p.Phe469=)	KRT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959532	NM_000421.5(KRT10):c.1391G>A (p.Arg464His)	KRT10 (R464H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959533	NM_000421.5(KRT10):c.1389A>C (p.Gly463=)	KRT10, KRT10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2908882	NM_000421.5(KRT10):c.1379G>A (p.Gly460Glu)	KRT10, KRT10-AS1 (G460E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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