32521[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1006276	NM_001012301.4(ARSI):c.1672C>T (p.Arg558Cys)	ARSI (R558C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2065939	NM_001012301.4(ARSI):c.1660C>T (p.Arg554Ter)	ARSI (R554*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 1001542	NM_001012301.4(ARSI):c.1644C>T (p.Cys548=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 101080	NM_001012301.4(ARSI):c.1641dup (p.Cys548fs)	ARSI (C548fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 661582	NM_001012301.4(ARSI):c.1631G>A (p.Arg544His)	ARSI (R544H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1486291	NM_001012301.4(ARSI):c.1628G>A (p.Arg543His)	ARSI (R543H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2463763	NM_001012301.4(ARSI):c.1627C>T (p.Arg543Cys)	ARSI (R543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1988384	NM_001012301.4(ARSI):c.1621C>T (p.Arg541Trp)	ARSI (R541W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 936045	NM_001012301.4(ARSI):c.1610G>A (p.Arg537Gln)	ARSI (R537Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2914345	NM_001012301.4(ARSI):c.1594G>A (p.Glu532Lys)	ARSI (E532K)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2912980	NM_001012301.4(ARSI):c.1578T>C (p.Asp526=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1125229	NM_001012301.4(ARSI):c.1575T>C (p.Ser525=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 465195	NM_001012301.4(ARSI):c.1574G>A (p.Ser525Asn)	ARSI (S525N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2749605	NM_001012301.4(ARSI):c.1571C>T (p.Ala524Val)	ARSI (A524V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 861880	NM_001012301.4(ARSI):c.1544T>G (p.Phe515Cys)	ARSI (F515C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 573405	NM_001012301.4(ARSI):c.1541A>G (p.Asp514Gly)	ARSI (D514G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2086319	NM_001012301.4(ARSI):c.1528C>T (p.Arg510Trp)	ARSI (R510W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 533754	NM_001012301.4(ARSI):c.1502C>T (p.Pro501Leu)	ARSI (P501L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 862191	NM_001012301.4(ARSI):c.1490G>A (p.Arg497His)	ARSI (R497H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 654800	NM_001012301.4(ARSI):c.1489C>G (p.Arg497Gly)	ARSI (R497G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 533753	NM_001012301.4(ARSI):c.1480G>T (p.Glu494Ter)	ARSI (E494*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 424689	NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys)	ARSI (R486C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1468722	NM_001012301.4(ARSI):c.1441C>T (p.Arg481Trp)	ARSI (R481W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1938088	NM_001012301.4(ARSI):c.1421G>A (p.Arg474Gln)	ARSI (R474Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1021329	NM_001012301.4(ARSI):c.1421G>C (p.Arg474Pro)	ARSI (R474P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 533758	NM_001012301.4(ARSI):c.1383C>T (p.Ala461=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 2993841	NM_001012301.4(ARSI):c.1376G>A (p.Arg459His)	ARSI (R459H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1442475	NM_001012301.4(ARSI):c.1376G>C (p.Arg459Pro)	ARSI (R459P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 772129	NM_001012301.4(ARSI):c.1317G>A (p.Pro439=)	ARSI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706096	NM_001012301.4(ARSI):c.1302C>T (p.Gly434=)	ARSI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535153	NM_001012301.4(ARSI):c.1264G>A (p.Gly422Ser)	ARSI (G422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601203	NM_001012301.4(ARSI):c.1259G>A (p.Arg420His)	ARSI (R420H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1039820	NM_001012301.4(ARSI):c.1258C>T (p.Arg420Cys)	ARSI (R420C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1939895	NM_001012301.4(ARSI):c.1247A>C (p.Gln416Pro)	ARSI (Q416P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 465194	NM_001012301.4(ARSI):c.1242C>T (p.Ala414=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 2050262	NM_001012301.4(ARSI):c.1240G>A (p.Ala414Thr)	ARSI (A414T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1509846	NM_001012301.4(ARSI):c.1240G>T (p.Ala414Ser)	ARSI (A414S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 703999	NM_001012301.4(ARSI):c.1239C>T (p.Thr413=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 939233	NM_001012301.4(ARSI):c.1231T>G (p.Trp411Gly)	ARSI (W411G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 465193	NM_001012301.4(ARSI):c.1209C>G (p.Ser403=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3129914	NM_001012301.4(ARSI):c.1199A>G (p.Gln400Arg)	ARSI (Q400R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553814	NM_001012301.4(ARSI):c.1196C>A (p.Ala399Asp)	ARSI (A399D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170427	NM_001012301.4(ARSI):c.1158G>A (p.Thr386=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2471202	NM_001012301.4(ARSI):c.1157C>T (p.Thr386Met)	ARSI (T386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494836	NM_001012301.4(ARSI):c.1156A>G (p.Thr386Ala)	ARSI (T386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614590	NM_001012301.4(ARSI):c.1154G>A (p.Arg385His)	ARSI (R385H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1525002	NM_001012301.4(ARSI):c.1154G>T (p.Arg385Leu)	ARSI (R385L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 664279	NM_001012301.4(ARSI):c.1153C>T (p.Arg385Cys)	ARSI (R385C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1001859	NM_001012301.4(ARSI):c.1142G>A (p.Arg381Gln)	ARSI (R381Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 644364	NM_001012301.4(ARSI):c.1135G>A (p.Glu379Lys)	ARSI (E379K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2713175	NM_001012301.4(ARSI):c.1117G>A (p.Val373Met)	ARSI (V373M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3017674	NM_001012301.4(ARSI):c.1116C>T (p.Asp372=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 844197	NM_001012301.4(ARSI):c.1114G>C (p.Asp372His)	ARSI (D372H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 424672	NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn)	ARSI (D372N)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1980401	NM_001012301.4(ARSI):c.1100G>T (p.Gly367Val)	ARSI (G367V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2755126	NM_001012301.4(ARSI):c.1098T>C (p.Asp366=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1423100	NM_001012301.4(ARSI):c.1096G>T (p.Asp366Tyr)	ARSI (D366Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 533756	NM_001012301.4(ARSI):c.1095C>T (p.Ala365=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3129911	NM_001012301.4(ARSI):c.1091C>T (p.Ala364Val)	ARSI (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1975547	NM_001012301.4(ARSI):c.1063G>A (p.Val355Met)	ARSI (V355M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1988402	NM_001012301.4(ARSI):c.1015C>T (p.Arg339Trp)	ARSI (R339W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1980520	NM_001012301.4(ARSI):c.1007G>A (p.Arg336Gln)	ARSI (R336Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 989031	NM_001012301.4(ARSI):c.1006C>T (p.Arg336Ter)	ARSI (R336*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 956595	NM_001012301.4(ARSI):c.967G>A (p.Val323Met)	ARSI (V323M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1052572	NM_001012301.4(ARSI):c.946G>A (p.Gly316Ser)	ARSI (G316S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1464949	NM_001012301.4(ARSI):c.940C>T (p.Arg314Cys)	ARSI (R314C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2145686	NM_001012301.4(ARSI):c.934C>T (p.Arg312Ter)	ARSI (R312*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 703924	NM_001012301.4(ARSI):c.930G>A (p.Pro310=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 771626	NM_001012301.4(ARSI):c.921C>T (p.Ser307=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 1354611	NM_001012301.4(ARSI):c.916G>A (p.Gly306Ser)	ARSI (G306S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 766841	NM_001012301.4(ARSI):c.912G>A (p.Ser304=)	ARSI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1051779	NM_001012301.4(ARSI):c.908del (p.Phe303fs)	ARSI (F303fs)	Deletion (frameshift variant)	Spastic paraplegia	GUncertain significance
Select item 465199	NM_001012301.4(ARSI):c.894T>C (p.Asn298=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3129922	NM_001012301.4(ARSI):c.893A>G (p.Asn298Ser)	ARSI (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2125672	NM_001012301.4(ARSI):c.862A>G (p.Asn288Asp)	ARSI (N288D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3129921	NM_001012301.4(ARSI):c.860A>T (p.Tyr287Phe)	ARSI (Y287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 465197	NM_001012301.4(ARSI):c.852C>T (p.Tyr284=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 959793	NM_001012301.4(ARSI):c.848G>A (p.Arg283His)	ARSI (R283H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1947709	NM_001012301.4(ARSI):c.847C>T (p.Arg283Cys)	ARSI (R283C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 706862	NM_001012301.4(ARSI):c.828C>T (p.Asn276=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 533755	NM_001012301.4(ARSI):c.801G>A (p.Val267=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 836087	NM_001012301.4(ARSI):c.790G>A (p.Ala264Thr)	ARSI (A264T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 704645	NM_001012301.4(ARSI):c.789C>T (p.Tyr263=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2714832	NM_001012301.4(ARSI):c.782G>A (p.Arg261Gln)	ARSI (R261Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 657041	NM_001012301.4(ARSI):c.779G>A (p.Arg260Gln)	ARSI (R260Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2342415	NM_001012301.4(ARSI):c.778C>T (p.Arg260Trp)	ARSI (R260W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1982846	NM_001012301.4(ARSI):c.776C>T (p.Ala259Val)	ARSI (A259V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2601558	NM_001012301.4(ARSI):c.767G>A (p.Gly256Asp)	ARSI (G256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 856972	NM_001012301.4(ARSI):c.737G>A (p.Arg246His)	ARSI (R246H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 837558	NM_001012301.4(ARSI):c.736C>T (p.Arg246Cys)	ARSI (R246C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3129920	NM_001012301.4(ARSI):c.715C>T (p.His239Tyr)	ARSI (H239Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129919	NM_001012301.4(ARSI):c.705C>G (p.Phe235Leu)	ARSI (F235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 533757	NM_001012301.4(ARSI):c.684C>T (p.Pro228=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 645796	NM_001012301.4(ARSI):c.680G>A (p.Arg227His)	ARSI (R227H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 465196	NM_001012301.4(ARSI):c.669C>T (p.His223=)	ARSI	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 2223746	NM_001012301.4(ARSI):c.664A>G (p.Ser222Gly)	ARSI (S222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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