2,6-Difluoro-4-methoxybenzenesulfonylchloride - ClinVar - NCBI

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The following terms were not found in ClinVar: Difluoro, methoxybenzenesulfonylchloride.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2265139	NM_015658.4(NOC2L):c.688G>A (p.Asp230Asn)	NOC2L (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567338	NM_015658.4(NOC2L):c.683C>T (p.Ala228Val)	NOC2L (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300213	NM_015658.4(NOC2L):c.680T>G (p.Val227Gly)	NOC2L (V227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210635	NM_015658.4(NOC2L):c.617C>T (p.Ala206Val)	NOC2L (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552252	NM_015658.4(NOC2L):c.17G>C (p.Ser6Thr)	NOC2L (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085125	NM_005101.4(ISG15):c.17C>T (p.Thr6Met)	ISG15 (T6M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1035971	NM_005101.4(ISG15):c.17C>A (p.Thr6Lys)	ISG15 (T6K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2242652	NM_198576.4(AGRN):c.1002C>A (p.Asn334Lys)	AGRN (N229K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536540	NM_198576.4(AGRN):c.1003C>T (p.Pro335Ser)	AGRN (P335S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 943139	NM_198576.4(AGRN):c.1016G>T (p.Arg339Leu)	AGRN (R234L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1896227	NM_198576.4(AGRN):c.1019C>G (p.Pro340Arg)	AGRN (P340R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2495309	NM_198576.4(AGRN):c.1022A>C (p.Glu341Ala)	AGRN (E341A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556131	NM_198576.4(AGRN):c.1052C>A (p.Ala351Asp)	AGRN (A246D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 951782	NM_198576.4(AGRN):c.1054C>T (p.Arg352Trp)	AGRN (R247W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 648310	NM_198576.4(AGRN):c.1112G>A (p.Gly371Asp)	AGRN (G371D +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 390111	NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser)	AGRN (G636S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 576273	NM_198576.4(AGRN):c.2105C>T (p.Pro702Leu)	AGRN (P702L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 263169	NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)	AGRN (A756T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 390183	NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)	AGRN (R1233W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 389927	NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu)	AGRN (V1374L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 2139975	NM_003327.4(TNFRSF4):c.16C>T (p.Arg6Trp)	TNFRSF4 (R6W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GUncertain significance
Select item 1367100	NM_003327.4(TNFRSF4):c.6C>G (p.Cys2Trp)	TNFRSF4 (C2W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3316813	NM_016176.6(SDF4):c.550G>A (p.Glu184Lys)	SDF4 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158917	NM_016176.6(SDF4):c.520A>G (p.Ile174Val)	SDF4 (I174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360805	NM_016176.6(SDF4):c.508G>A (p.Val170Ile)	SDF4 (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316814	NM_016176.6(SDF4):c.499G>A (p.Glu167Lys)	SDF4 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406572	NM_016176.6(SDF4):c.494A>G (p.His165Arg)	SDF4 (H165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218410	NM_016176.6(SDF4):c.491G>A (p.Gly164Asp)	SDF4 (G164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373570	NM_016176.6(SDF4):c.482C>T (p.Ala161Val)	SDF4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286722	NM_016176.6(SDF4):c.464A>G (p.Tyr155Cys)	SDF4 (Y155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158916	NM_016176.6(SDF4):c.448G>T (p.Val150Leu)	SDF4 (V150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290756	NM_016176.6(SDF4):c.-11C>T	SDF4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 60493	NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp)	B3GALT6 (R6W)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 429685	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	B3GALT6 (R6Q)	Single nucleotide variant (missense variant)	Al-Gazali syndrome +5 more	GUncertain significance
Select item 1438621	NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg)	B3GALT6 (G37R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 996068	NM_080605.4(B3GALT6):c.227del (p.Ile76fs)	B3GALT6 (I76fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GPathogenic
Select item 522415	NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)	B3GALT6 (F186L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +1 more	GPathogenic
Select item 996067	NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	B3GALT6 (R256W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GPathogenic/Likely pathogenic
Select item 3316657	NM_001130413.4(SCNN1D):c.467C>T (p.Ser156Leu)	SCNN1D (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158618	NM_001130413.4(SCNN1D):c.538G>A (p.Ala180Thr)	SCNN1D (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110108	NM_017871.6(INTS11):c.331G>A (p.Ala111Thr)	INTS11 (A111T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110107	NM_017871.6(INTS11):c.282C>A (p.His94Gln)	INTS11 (H100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110106	NM_017871.6(INTS11):c.249G>A (p.Met83Ile)	INTS11 (M89I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110104	NM_017871.6(INTS11):c.226G>A (p.Ala76Thr)	INTS11 (A82T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506982	NM_017871.6(INTS11):c.163G>A (p.Gly55Ser)	INTS11 (G61S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
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 1050534	NM_001330311.2(DVL1):c.1602G>A (p.Leu534=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2517884	NM_032348.4(MXRA8):c.1021C>A (p.Gln341Lys)	MXRA8 (Q332K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297141	NM_032348.4(MXRA8):c.1002C>G (p.Ser334Arg)	MXRA8 (S325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152837	NM_032348.4(MXRA8):c.965G>T (p.Arg322Leu)	MXRA8 (R313L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297138	NM_032348.4(MXRA8):c.955A>T (p.Thr319Ser)	MXRA8 (T310S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043139	NM_030937.6(CCNL2):c.*4G>A	CCNL2	Single nucleotide variant (3 prime UTR variant +1 more)	CCNL2-related disorder	GBenign
Select item 2521733	NM_030937.6(CCNL2):c.545G>A (p.Arg182Gln)	CCNL2 (R182Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306205	NM_030937.6(CCNL2):c.481G>A (p.Val161Met)	CCNL2 (V161M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319959	NM_031921.6(ATAD3B):c.419G>A (p.Arg140His)	ATAD3B (R140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130714	NM_031921.4(ATAD3B):c.623G>A	ATAD3B (R162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828050	NM_001170535.3(ATAD3A):c.490C>T (p.Gln164Ter)	ATAD3A (Q212* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GPathogenic
Select item 2604289	NM_001170687.4(MIB2):c.598A>T (p.Ser200Cys)	MIB2 (S200C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126087	NM_001170687.4(MIB2):c.680C>T (p.Ala227Val)	MIB2 (A227V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 915402	NM_024011.4(CDK11A):c.740G>A (p.Arg247Gln)	CDK11A (R237Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2494183	NM_024011.4(CDK11A):c.587C>T (p.Ala196Val)	CDK11A (A195V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355537	NM_024011.4(CDK11A):c.583C>T (p.Arg195Trp)	CDK11A (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286784	NM_024011.4(CDK11A):c.546G>C (p.Gln182His)	CDK11A (Q172H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306683	NM_024011.4(CDK11A):c.539G>A (p.Arg180Gln)	CDK11A (R179Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050582	NM_002074.5(GNB1):c.916+5G>A	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315576	NM_002074.5(GNB1):c.268-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute lymphoid leukemia +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +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)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 431082	NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)	GNB1 (G77A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16213	NM_000815.5(GABRD):c.659G>A (p.Arg220His)	GABRD (R220H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 139113	NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	SKI (A62G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 409976	NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)	SKI	Duplication (inframe_insertion)	Shprintzen-Goldberg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373594	NM_003036.4(SKI):c.464C>G (p.Ala155Gly)	SKI (A155G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213692	NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	SKI (A399V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213693	NM_003036.4(SKI):c.1247C>T (p.Ala416Val)	SKI (A416V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213707	NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)	SKI (A422T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 373745	NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)	SKI (S494T)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 2452629	NM_003036.4(SKI):c.1786G>C (p.Val596Leu)	SKI (V596L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1342566	NM_003036.4(SKI):c.1817C>T (p.Thr606Met)	SKI (T606M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 463399	NM_003036.4(SKI):c.1848C>G (p.Ile616Met)	SKI (I616M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1781515	NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)	SKI (A621T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1932726	NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)	SKI (E622D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 213705	NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)	SKI (K626del)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213698	NM_003036.4(SKI):c.1877A>T (p.Lys626Met)	SKI (K626M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2452625	NM_003036.4(SKI):c.1885G>C (p.Glu629Gln)	SKI (E629Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520169	NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)	SKI (R636C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1782528	NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)	SKI (K638R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 463401	NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)	SKI (R648G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1783290	NM_003036.4(SKI):c.1955A>G (p.Lys652Arg)	SKI (K652R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1783486	NM_003036.4(SKI):c.1963G>A (p.Glu655Lys)	SKI (E655K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318705	NM_003036.4(SKI):c.1975C>G (p.Leu659Val)	SKI (L659V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1783820	NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)	SKI (A661T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1784054	NM_003036.4(SKI):c.1996C>G (p.Gln666Glu)	SKI (Q666E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2147514	NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)	PEX10 (R326S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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