"clinsig likely pathogenic"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	ACAP3, ACTRT2 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 916564	NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)	KLHL17 (A561E)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
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 161454	NM_005101.4(ISG15):c.379G>T (p.Glu127Ter)	ISG15 (E127*)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely pathogenic
Select item 243036	NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN, LOC126805576 (G76S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2814533	NM_198576.4(AGRN):c.464-2A>G	AGRN	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 666960	NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)	AGRN (S194fs +1 more)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 970311	NM_198576.4(AGRN):c.667dup (p.Leu223fs)	AGRN, LOC129929077 (L223fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 8	GPathogenic/Likely pathogenic
Select item 1944125	NM_198576.4(AGRN):c.952+1_952+3del	AGRN	Microsatellite (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
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 2063004	NM_198576.4(AGRN):c.1798+1G>T	AGRN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2020643	NM_198576.4(AGRN):c.1799-1G>A	AGRN	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2161460	NM_198576.4(AGRN):c.2371+1G>T	AGRN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1525296	NM_198576.4(AGRN):c.3250+1G>A	AGRN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2041421	NM_198576.4(AGRN):c.3632-2del	AGRN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2041422	NM_198576.4(AGRN):c.3632-1G>C	AGRN	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 489335	NM_198576.4(AGRN):c.4621C>T (p.Arg1541Ter)	AGRN (R1541* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 801429	NM_198576.4(AGRN):c.4745-47_4753del	AGRN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1177400	NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)	AGRN (N1536fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2584416	NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)	AGRN (R1566* +1 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 8	GPathogenic/Likely pathogenic
Select item 126555	NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	AGRN, LOC129929078 (V1727F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2440409	NM_198576.4(AGRN):c.5254-1_5261del	AGRN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 617537	NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)	AGRN (L1759P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 503670	NM_198576.4(AGRN):c.5312dup (p.Ser1772fs)	AGRN (S1772fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2748133	NM_198576.4(AGRN):c.5876+1G>A	AGRN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1701897	NM_198576.4(AGRN):c.5909A>G (p.Asn1970Ser)	AGRN (N1869S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1067539	NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)	B3GALT6 (M1K)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely pathogenic
Select item 452846	NM_080605.4(B3GALT6):c.239G>A (p.Trp80Ter)	B3GALT6 (W80*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 806030	NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter)	B3GALT6 (Y227*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 666963	NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)	B3GALT6 (Q255*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia	GLikely pathogenic
Select item 60491	NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)	B3GALT6 (S309T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GPathogenic/Likely pathogenic
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 524041	NM_001330311.2(DVL1):c.1694_1706del (p.Thr565fs)	DVL1, LOC129929114 (T565fs +1 more)	Deletion (frameshift variant)	not provided	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 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 373812	NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs)	DVL1 (V420fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1709442	NM_001330311.2(DVL1):c.363-1G>C	DVL1	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 402162	NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn)	MXRA8 (I413N +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3031419	NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	VWA1-related condition	GLikely pathogenic
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 830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	VWA1 (G21fs)	Microsatellite (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related condition	GLikely pathogenic
Select item 830329	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)	VWA1	Deletion (inframe_deletion +1 more)	Neuromuscular disease	GLikely 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 2664084	NM_022834.5(VWA1):c.662dup (p.Glu222fs)	VWA1 (E222fs)	Duplication (frameshift variant +1 more)	Neuronopathy, distal hereditary motor	GLikely pathogenic
Select item 830328	NM_022834.5(VWA1):c.879del (p.Arg293fs)	VWA1 (R293fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 1318173	NM_022834.5(VWA1):c.1014_1017dup (p.Ile340fs)	VWA1 (I340fs)	Duplication (frameshift variant +1 more)	not provided	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 2584513	NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)	VWA1 (L390fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GLikely pathogenic
Select item 1213715	NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	ATAD3A, ATAD3B +4 more	Deletion	Harel-Yoon syndrome	GLikely pathogenic
Select item 1710696	NM_031921.6(ATAD3B):c.2T>A (p.Met1Lys)	ATAD3A, LOC129929133 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1196697	NM_001170535.3(ATAD3A):c.281_282+1del	ATAD3A	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 986833	NM_001170535.3(ATAD3A):c.384+1G>A	ATAD3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2499615	NM_001170535.3(ATAD3A):c.385-2A>C	ATAD3A	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GLikely pathogenic
Select item 452211	NM_001170535.3(ATAD3A):c.658C>T (p.Gln220Ter)	ATAD3A (Q268* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1298396	NM_001170535.3(ATAD3A):c.928C>T (p.Arg310Ter)	ATAD3A (R231* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 992489	NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	ATAD3A (V302fs +2 more)	Duplication (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 2136073	NM_001170535.3(ATAD3A):c.1266+1G>A	ATAD3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1685550	NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	ATAD3A (N375S +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GPathogenic/Likely pathogenic
Select item 992490	NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	ATAD3A (H393fs +2 more)	Deletion (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1679823	NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)	ATAD3A (R449Q +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 2506007	NM_031921.6(ATAD3B):c.1611G>A (p.Trp537Ter)	ATAD3A (W458* +3 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome	GLikely pathogenic
Select item 1810561	NM_031921.6(ATAD3B):c.1689delG (p.Gln563Hisfs)	ATAD3A (Q611fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 161192	NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	TMEM240 (P170L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1027486	NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)	TMEM240 (L140Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21	GLikely pathogenic
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1200272	NM_002074.5(GNB1):c.917-2A>G	GNB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 870212	NM_002074.5(GNB1):c.700-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2442801	NM_002074.5(GNB1):c.498-2A>G	GNB1	Single nucleotide variant (splice acceptor variant)	Autosomal dominant non-syndromic intellectual disability	GLikely pathogenic
Select item 1048759	NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)	GNB1 (C166R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 452797	NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	GNB1 (E130K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 1710142	NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)	GNB1 (G109E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 1334942	NM_002074.5(GNB1):c.286C>T (p.Arg96Cys)	GNB1 (R96C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 633546	NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)	GNB1 (A92T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 422536	NM_002074.5(GNB1):c.266A>G (p.Lys89Arg)	GNB1 (K89R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 391609	NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)	GNB1 (I80S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 985590	NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	GNB1 (G77D)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +3 more	GPathogenic/Likely pathogenic
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic/Likely pathogenic
Select item 224712	NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental Disability +7 more	GPathogenic/Likely pathogenic
Select item 976696	NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)	GNB1 (D76N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 1708250	NM_002074.5(GNB1):c.217G>A (p.Ala73Thr)	GNB1 (A73T)	Single nucleotide variant (5 prime UTR variant +1 more)	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	GLikely pathogenic
Select item 1518601	NM_002074.5(GNB1):c.217G>T (p.Ala73Ser)	GNB1 (A73S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2444031	NM_002074.5(GNB1):c.183G>T (p.Met61Ile)	GNB1 (M61I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 916054	NM_002074.5(GNB1):c.170A>C (p.Lys57Thr)	GNB1 (K57T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 617622	NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)	GNB1 (G53E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2572418	NM_002074.5(GNB1):c.93_94del (p.Gln32fs)	GNB1 (Q32fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2443737	NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	CFAP74 (G570fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2412913	NM_000815.5(GABRD):c.635C>T (p.Ala212Val)	GABRD (A212V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 570752	NM_003036.4(SKI):c.68A>C (p.Gln23Pro)	SKI (Q23P)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely pathogenic

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