SPEG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2502206	Single allele	DES, LOC110121267 +2 more	Duplication	Dilated cardiomyopathy 1I	GUncertain significance
Select item 1238894	NC_000002.12:g.219434819G>T	SPEG	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1663223	NM_005876.5(SPEG):c.9A>G (p.Lys3=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485545	NM_005876.5(SPEG):c.10G>A (p.Ala4Thr)	SPEG (A4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2143491	NM_005876.5(SPEG):c.14G>A (p.Arg5Gln)	SPEG (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1377188	NM_005876.5(SPEG):c.14G>T (p.Arg5Leu)	SPEG (R5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931741	NM_005876.5(SPEG):c.27C>A (p.Gly9=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999310	NM_005876.5(SPEG):c.36G>A (p.Ala12=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497376	NM_005876.5(SPEG):c.50C>T (p.Pro17Leu)	SPEG (P17L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432832	NM_005876.5(SPEG):c.52C>T (p.Pro18Ser)	SPEG (P18S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1672281	NM_005876.5(SPEG):c.54C>T (p.Pro18=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357889	NM_005876.5(SPEG):c.59C>T (p.Pro20Leu)	SPEG (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319746	NM_005876.5(SPEG):c.85G>T (p.Val29Leu)	SPEG (V29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984884	NM_005876.5(SPEG):c.92C>A (p.Ala31Asp)	SPEG (A31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960903	NM_005876.5(SPEG):c.93C>T (p.Ala31=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239709	NM_005876.5(SPEG):c.104C>T (p.Ala35Val)	SPEG (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516543	NM_005876.5(SPEG):c.111G>A (p.Val37=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860953	NM_005876.5(SPEG):c.114C>A (p.Ala38=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654228	NM_005876.5(SPEG):c.114C>G (p.Ala38=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287260	NM_005876.5(SPEG):c.116T>C (p.Val39Ala)	SPEG (V39A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2390202	NM_005876.5(SPEG):c.119C>A (p.Ala40Asp)	SPEG (A40D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2906437	NM_005876.5(SPEG):c.120C>T (p.Ala40=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409031	NM_005876.5(SPEG):c.137T>C (p.Leu46Pro)	SPEG (L46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945068	NM_005876.5(SPEG):c.139C>A (p.Arg47=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061964	NM_005876.5(SPEG):c.143C>T (p.Pro48Leu)	SPEG (P48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2284733	NM_005876.5(SPEG):c.146T>C (p.Leu49Pro)	SPEG (L49P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711118	NM_005876.5(SPEG):c.153C>T (p.Asn51=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1923727	NM_005876.5(SPEG):c.166G>A (p.Ala56Thr)	SPEG (A56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803487	NM_005876.5(SPEG):c.168G>A (p.Ala56=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599487	NM_005876.5(SPEG):c.170G>T (p.Gly57Val)	SPEG (G57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168872	NM_005876.5(SPEG):c.178G>C (p.Val60Leu)	SPEG (V60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377712	NM_005876.5(SPEG):c.178G>T (p.Val60Leu)	SPEG (V60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552815	NM_005876.5(SPEG):c.182G>A (p.Arg61Gln)	SPEG (R61Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1930514	NM_005876.5(SPEG):c.202_207del (p.Gly68_Thr69del)	SPEG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 721102	NM_005876.5(SPEG):c.206C>T (p.Thr69Met)	SPEG (T69M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1562726	NM_005876.5(SPEG):c.219C>T (p.Ser73=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521830	NM_005876.5(SPEG):c.239G>A (p.Gly80Glu)	SPEG (G80E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745702	NM_005876.5(SPEG):c.247C>T (p.Leu83=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651921	NM_005876.5(SPEG):c.249G>A (p.Leu83=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000509	NM_005876.5(SPEG):c.252C>T (p.Pro84=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519765	NM_005876.5(SPEG):c.254C>T (p.Ala85Val)	SPEG (A85V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436288	NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)	SPEG (P86R)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 5 +1 more	GUncertain significance
Select item 2176852	NM_005876.5(SPEG):c.258G>A (p.Pro86=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421940	NM_005876.5(SPEG):c.259_260delinsTG (p.Ala87Cys)	SPEG (A87C)	Indel (missense variant)	not provided	GUncertain significance
Select item 1515067	NM_005876.5(SPEG):c.260C>T (p.Ala87Val)	SPEG (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654803	NM_005876.5(SPEG):c.264C>G (p.Pro88=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591796	NM_005876.5(SPEG):c.264C>T (p.Pro88=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307862	NM_005876.5(SPEG):c.275G>T (p.Cys92Phe)	SPEG (C92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414775	NM_005876.5(SPEG):c.277C>T (p.Leu93=)	SPEG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1667195	NM_005876.5(SPEG):c.286C>A (p.Arg96=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765070	NM_005876.5(SPEG):c.294C>T (p.Cys98=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924062	NM_005876.5(SPEG):c.309C>T (p.Ala103=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057010	NM_005876.5(SPEG):c.313G>A (p.Val105Met)	SPEG (V105M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797157	NM_005876.5(SPEG):c.318C>T (p.Tyr106=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480424	NM_005876.5(SPEG):c.322T>C (p.Cys108Arg)	SPEG (C108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987879	NM_005876.5(SPEG):c.325A>C (p.Met109Leu)	SPEG (M109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982809	NM_005876.5(SPEG):c.329C>T (p.Ala110Val)	SPEG (A110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388412	NM_005876.5(SPEG):c.340C>T (p.Arg114Trp)	SPEG (R114W)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 5 +1 more	GUncertain significance
Select item 1312222	NM_005876.5(SPEG):c.341G>C (p.Arg114Pro)	SPEG (R114P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1418818	NM_005876.5(SPEG):c.347G>C (p.Arg116Pro)	SPEG (R116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968425	NM_005876.5(SPEG):c.353C>T (p.Ser118Phe)	SPEG (S118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912895	NM_005876.5(SPEG):c.356G>C (p.Cys119Ser)	SPEG (C119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910098	NM_005876.5(SPEG):c.361G>A (p.Ala121Thr)	SPEG (A121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921277	NM_005876.5(SPEG):c.363G>A (p.Ala121=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169975	NM_005876.5(SPEG):c.373G>A (p.Val125Met)	SPEG (V125M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943145	NM_005876.5(SPEG):c.383T>C (p.Val128Ala)	SPEG (V128A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023047	NM_005876.5(SPEG):c.388+17G>C	SPEG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2722299	NM_005876.5(SPEG):c.399G>A (p.Thr133=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542465	NM_005876.5(SPEG):c.401C>T (p.Ala134Val)	SPEG (A134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1532804	NM_005876.5(SPEG):c.417C>T (p.Ser139=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028951	NM_005876.5(SPEG):c.418G>A (p.Asp140Asn)	SPEG (D140N)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 5	GUncertain significance
Select item 2961397	NM_005876.5(SPEG):c.426G>A (p.Gln142=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923848	NM_005876.5(SPEG):c.437G>A (p.Arg146His)	SPEG (R146H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999561	NM_005876.5(SPEG):c.438C>T (p.Arg146=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416138	NM_005876.5(SPEG):c.440T>A (p.Leu147Gln)	SPEG (L147Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354954	NM_005876.5(SPEG):c.448C>T (p.Arg150Trp)	SPEG (R150W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606141	NM_005876.5(SPEG):c.456C>T (p.Asp152=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078939	NM_005876.5(SPEG):c.457G>A (p.Gly153Arg)	SPEG (G153R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448845	NM_005876.5(SPEG):c.461C>A (p.Ala154Asp)	SPEG (A154D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656738	NM_005876.5(SPEG):c.465C>T (p.Phe155=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832235	NM_005876.5(SPEG):c.471C>A (p.Thr157=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749136	NM_005876.5(SPEG):c.474C>T (p.Pro158=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491302	NM_005876.5(SPEG):c.476C>T (p.Thr159Met)	SPEG (T159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416325	NM_005876.5(SPEG):c.478+5G>A	SPEG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996913	NM_005876.5(SPEG):c.478+14G>A	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907943	NM_005876.5(SPEG):c.479-18C>T	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639973	NM_005876.5(SPEG):c.479-11C>T	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090981	NM_005876.5(SPEG):c.491C>T (p.Thr164Ile)	SPEG (T164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490507	NM_005876.5(SPEG):c.517C>T (p.Pro173Ser)	SPEG (P173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635442	NM_005876.5(SPEG):c.521C>T (p.Pro174Leu)	SPEG (P174L)	Single nucleotide variant (missense variant)	SPEG-related disorder	GUncertain significance
Select item 1950875	NM_005876.5(SPEG):c.528C>T (p.Ser176=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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