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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168967	NM_001385641.1(SAMD11):c.2178+12C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320032	NM_001394713.1(PERM1):c.2330T>C (p.Val777Ala)	PERM1 (V663A +2 more)	Single nucleotide variant (missense variant)	Renal tubular epithelial cell apoptosis +1 more	GPathogenic
Select item 3068432	NM_001394713.1(PERM1):c.2149+1062_2162del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
Select item 1028857	NM_005101.4(ISG15):c.4-1G>A	ISG15	Single nucleotide variant (splice acceptor variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GPathogenic/Likely pathogenic
Select item 915424	NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del)	ISG15	Deletion (inframe_deletion)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 402986	NM_005101.4(ISG15):c.248G>A (p.Ser83Asn)	ISG15 (S83N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1166514	NM_005101.4(ISG15):c.294A>G (p.Val98=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 1020899	NM_005101.4(ISG15):c.463dup (p.Arg155fs)	ISG15 (R155fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 571135	NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)	AGRN (D58N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128296	NM_198576.4(AGRN):c.261C>T (p.Asp87=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 263203	NM_198576.4(AGRN):c.738C>T (p.Asp246=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1029355	NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile)	AGRN (A163I +1 more)	Indel (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 930633	NM_198576.4(AGRN):c.1177+4_1177+50del	AGRN	Deletion (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 263164	NM_198576.4(AGRN):c.1603+19G>A	AGRN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1033268	NM_198576.4(AGRN):c.1702G>A (p.Gly568Ser)	AGRN (G568S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1029350	NM_198576.4(AGRN):c.1939G>A (p.Glu647Lys)	AGRN (E542K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128294	NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)	AGRN (E728V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 541210	NM_198576.4(AGRN):c.2277G>A (p.Pro759=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 638447	NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr)	AGRN (A780T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029351	NM_198576.4(AGRN):c.2393A>T (p.His798Leu)	AGRN (H693L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 190974	NM_198576.4(AGRN):c.2457G>C (p.Gly819=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 857129	NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn)	AGRN (D734N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 541158	NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)	AGRN (G883S +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +1 more	GLikely benign
Select item 235570	NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)	AGRN (A897V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 570635	NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr)	AGRN (A1012T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128298	NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)	AGRN (L1088F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128300	NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 541152	NM_198576.4(AGRN):c.3569G>A (p.Arg1190His)	AGRN (R1190H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 642196	NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val)	AGRN (A1255V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 936082	NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met)	AGRN (T1197M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 844468	NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys)	AGRN (R1380C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 850243	NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys)	AGRN (R1521C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 801429	NM_198576.4(AGRN):c.4745-47_4753del	AGRN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 541177	NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)	AGRN (A1600V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 263193	NM_198576.4(AGRN):c.4977-10A>G	AGRN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 243039	NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN (G1675S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1029352	NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser)	AGRN (G1581S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128313	NM_198576.4(AGRN):c.5070C>T (p.Phe1690=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 663472	NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)	AGRN (D1600N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1061832	NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp)	AGRN (R1705W +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128316	NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 953603	NM_198576.4(AGRN):c.5629T>G (p.Tyr1877Asp)	AGRN (Y1776D +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 541162	NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)	AGRN (T1882I +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2582504	NM_198576.4(AGRN):c.5801T>C (p.Leu1934Pro)	AGRN (L1833P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1029353	NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile)	AGRN (V1947I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474166	NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)	AGRN (V2001M +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 574619	NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)	AGRN (A2008T +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 847183	NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn)	AGRN (D1918N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 655146	NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser)	TNFRSF4 (A158S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 1165295	NM_003327.4(TNFRSF4):c.371-16C>T	TNFRSF4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to OX40 deficiency	GBenign/Likely benign
Select item 580337	NM_003327.4(TNFRSF4):c.146-2A>G	TNFRSF4	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 429685	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	B3GALT6 (R6Q)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +5 more	GUncertain significance
Select item 800197	NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	B3GALT6 (G37E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1419814	NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	B3GALT6 (P50A)	Single nucleotide variant (missense variant)	Al-Gazali syndrome +3 more	GUncertain significance
Select item 623665	NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	B3GALT6 (E105Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031060	NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)	B3GALT6 (R162W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GUncertain significance
Select item 1031061	NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)	B3GALT6 (S187W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GUncertain significance
Select item 2582333	NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)	B3GALT6 (E200K)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	GUncertain significance
Select item 1691282	NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	B3GALT6 (A250V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 283597	NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	B3GALT6 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1208606	NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	B3GALT6 (L299M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 638375	NM_001029885.2(CPTP):c.193G>T (p.Glu65Ter)	CPTP (E65*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 931592	NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa)	DVL1	Deletion (stop lost)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 1050587	NM_001330311.2(DVL1):c.1850G>T (p.Arg617Leu)	DVL1 (R592L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049544	NM_001330311.2(DVL1):c.1819A>C (p.Thr607Pro)	DVL1 (T582P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708399	NM_001330311.2(DVL1):c.1799G>A (p.Ser600Asn)	DVL1 (S575N +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 981468	NM_001330311.2(DVL1):c.1715-1G>A	DVL1	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488048	NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)	LOC129929114, DVL1 (S562fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488046	NM_001330311.2(DVL1):c.1698del (p.Ser567fs)	DVL1, LOC129929114 (S542fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488045	NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	DVL1, LOC129929114 (S564fs +1 more)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 931630	NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)	DVL1 (S537fs +1 more)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 1	GLikely pathogenic
Select item 981467	NM_001330311.2(DVL1):c.1667del (p.Pro556fs)	DVL1 (P531fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 1050534	NM_001330311.2(DVL1):c.1602G>A (p.Leu534=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 208044	NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)	DVL1 (H502fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 488047	NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	DVL1 (P499fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic/Likely pathogenic
Select item 749017	NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser)	DVL1 (C501S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +1 more	GLikely benign
Select item 1026244	NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)	DVL1 (N460S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 445553	NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)	DVL1 (T431A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +3 more	GLikely benign
Select item 719587	NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp)	DVL1 (R145W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1479849	NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys)	DVL1 (R128C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 788936	NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)	DVL1 (A91V)	Single nucleotide variant (missense variant)	DVL1-related condition +3 more	GBenign/Likely benign
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +3 more	GPathogenic/Likely pathogenic
Select item 2572417	NM_022834.5(VWA1):c.558C>T (p.Ala186=)	VWA1 (R55*)	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GLikely pathogenic
Select item 1675331	NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter)	VWA1 (Y364*)	Duplication (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 156721	Single allele	ATAD3B, ATAD3C +4 more	Deletion	Large for gestational age +1 more	Gnot provided
Select item 2442051	NM_031921.6(ATAD3B):c.131A>G (p.Lys44Arg)	ATAD3A (K43R +1 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 915434	NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)	ATAD3A (D55N +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1199193	NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)	ATAD3A (R138W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1029208	NM_001170535.3(ATAD3A):c.515-4G>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1694480	NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)	ATAD3A (A137S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 733799	NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)	ATAD3A	Single nucleotide variant (synonymous variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 1029209	NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg)	ATAD3A (G155R +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 733800	NM_001170535.3(ATAD3A):c.750+10C>A	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 989289	NM_001170535.3(ATAD3A):c.964-1G>T	ATAD3A	Single nucleotide variant (splice acceptor variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 1199194	NM_001170535.3(ATAD3A):c.986G>A (p.Arg329His)	ATAD3A (R250H +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1199195	NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter)	ATAD3A (K279* +2 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 1328144	NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)	ATAD3A (T280M +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance

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