ClinVar for Gene (Select 4938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4810999	NM_016816.4(OAS1):c.818C>T (p.Thr273Ile)	OAS1 (T115I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4808805	NM_016816.4(OAS1):c.1168C>G (p.Gln390Glu)	OAS1 (Q232E +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 4807227	NM_016816.4(OAS1):c.1102A>G (p.Ile368Val)	OAS1 (I210V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 4806655	NM_016816.4(OAS1):c.273G>T (p.Gln91His)	OAS1 (Q91H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4803889	NM_016816.4(OAS1):c.984T>C (p.Asn328=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4780017	NM_016816.4(OAS1):c.771G>T (p.Thr257=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4779964	NM_016816.4(OAS1):c.1082_1083delinsCA (p.Arg361Thr)	OAS1 (R203T +2 more)	Indel (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 4778769	NM_016816.4(OAS1):c.354G>C (p.Lys118Asn)	OAS1 (K118N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4776845	NM_016816.4(OAS1):c.445G>A (p.Val149Met)	OAS1 (V149M)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 4775668	NM_016816.4(OAS1):c.700C>G (p.Leu234Val)	OAS1 (L226V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4775585	NM_016816.4(OAS1):c.1168C>T (p.Gln390Ter)	OAS1 (Q232* +5 more)	Single nucleotide variant (intron variant +4 more)	not provided	GUncertain significance
Select item 4771768	NM_016816.4(OAS1):c.827A>G (p.Tyr276Cys)	OAS1 (Y118C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4770175	NM_016816.4(OAS1):c.1102A>C (p.Ile368Leu)	OAS1 (I210L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 4767444	NM_016816.4(OAS1):c.386C>T (p.Pro129Leu)	OAS1 (P129L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4766977	NM_016816.4(OAS1):c.583A>G (p.Arg195Gly)	OAS1 (E179G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4765967	NM_016816.4(OAS1):c.551G>A (p.Gly184Asp)	OAS1 (G184D)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 4765745	NM_016816.4(OAS1):c.56A>G (p.Tyr19Cys)	LOC130008812, OAS1 (Y19C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4765272	NM_016816.4(OAS1):c.596A>T (p.Lys199Met)	OAS1 (E183D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4760526	NM_016816.4(OAS1):c.389G>T (p.Arg130Leu)	OAS1 (R130L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4739654	NM_016816.4(OAS1):c.714T>C (p.Tyr238=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4735681	NM_016816.4(OAS1):c.226G>T (p.Ala76Ser)	OAS1 (A76S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4731484	NM_016816.4(OAS1):c.571A>G (p.Thr191Ala)	OAS1 (T191A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4729068	NM_016816.4(OAS1):c.586G>A (p.Asp196Asn)	OAS1 (R180K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4727323	NM_016816.4(OAS1):c.294C>A (p.Phe98Leu)	OAS1 (F98L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4725331	NM_016816.4(OAS1):c.408G>C (p.Leu136=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 4723173	NM_016816.4(OAS1):c.469+1G>A	OAS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 4721814	NM_016816.4(OAS1):c.771G>C (p.Thr257=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4718165	NM_016816.4(OAS1):c.772G>T (p.Val258Phe)	OAS1 (V250F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4715322	NM_016816.4(OAS1):c.884+14A>G	OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4713134	NM_016816.4(OAS1):c.509_510del (p.Tyr170fs)	OAS1 (Y170fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 4712675	NM_016816.4(OAS1):c.813C>T (p.Tyr271=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4707548	NM_016816.4(OAS1):c.96T>A (p.His32Gln)	LOC130008812, OAS1 (H32Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4701833	NM_016816.4(OAS1):c.550G>T (p.Gly184Cys)	OAS1 (G184C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4701651	NM_016816.4(OAS1):c.470G>A (p.Gly157Asp)	OAS1 (G157D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4700122	NM_016816.4(OAS1):c.1077C>T (p.Pro359=)	OAS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 4695725	NM_016816.4(OAS1):c.1020G>A (p.Val340=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4693442	NM_016816.4(OAS1):c.181-15dup	OAS1	Duplication (intron variant)	not provided	GBenign
Select item 4682809	GRCh37/hg19 12q23.1-24.33(chr12:99532287-133777902)x3	AACS, ABCB9 +272 more	Copy number gain	not provided	GPathogenic
Select item 4560380	NM_016816.4(OAS1):c.283C>T (p.Arg95Trp)	OAS1 (R95W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 4560379	NM_016816.4(OAS1):c.1055C>A (p.Ala352Glu)	OAS1 (A344E +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 4560378	NM_016816.4(OAS1):c.1064A>G (p.Glu355Gly)	OAS1 (E347G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 4560377	NM_016816.4(OAS1):c.71C>T (p.Thr24Met)	LOC130008812, OAS1 (T24M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4539936	NM_016816.4(OAS1):c.992G>T (p.Cys331Phe)	OAS1 (C173F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4528890	OAS1, ARG47TER	OAS1	Single nucleotide variant	not provided	GUncertain significance
Select item 4380087	NM_016816.4(OAS1):c.*62G>A	OAS1	Single nucleotide variant (synonymous variant +3 more)	Not Specified
Select item 4380086	NM_016816.4(OAS1):c.1039-1G>T	OAS1	Single nucleotide variant (3 prime UTR variant +3 more)	Not Specified
Select item 4380085	NM_016816.4(OAS1):c.1039-1G>C	OAS1	Single nucleotide variant (3 prime UTR variant +3 more)	Not Specified
Select item 4380084	NM_016816.4(OAS1):c.885-6C>G	OAS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4380083	NM_016816.4(OAS1):c.885-204G>T	OAS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4380082	NM_016816.4(OAS1):c.685C>A (p.Gln229Lys)	OAS1 (Q221K +2 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4124689	NM_016816.4(OAS1):c.1163C>G (p.Thr388Ser)	OAS1 (H197Q +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 4124688	NM_016816.4(OAS1):c.688T>A (p.Tyr230Asn)	OAS1 (Y72N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 4079471	NM_016816.4(OAS1):c.654+1G>A	OAS1 (C203Y)	Single nucleotide variant (missense variant +3 more)	Pulmonary alveolar proteinosis with hypogammaglobulinemia	GUncertain significance
Select item 4070777	NM_016816.4(OAS1):c.413C>T (p.Ser138Leu)	OAS1 (S138L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3923344	NM_016816.4(OAS1):c.1186A>T (p.Thr396Ser)	OAS1 (D355V +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3923343	NM_016816.4(OAS1):c.710T>C (p.Val237Ala)	OAS1 (V229A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3923342	NM_016816.4(OAS1):c.22C>T (p.Pro8Ser)	LOC130008812, OAS1 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3907080	NM_016816.4(OAS1):c.920A>G (p.Asn307Ser)	OAS1 (N149S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3898014	NM_016816.4(OAS1):c.910C>A (p.Pro304Thr)	OAS1 (P146T +2 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary alveolar proteinosis with hypogammaglobulinemia	GUncertain significance
Select item 3728244	NM_016816.4(OAS1):c.1018G>C (p.Val340Leu)	OAS1 (V332L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3724875	NM_016816.4(OAS1):c.462T>G (p.Asp154Glu)	OAS1 (D154E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3724109	NM_016816.4(OAS1):c.654+16C>T	OAS1 (P208L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3717762	NM_016816.4(OAS1):c.172G>A (p.Val58Met)	LOC130008812, OAS1 (V58M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3717565	NM_016816.4(OAS1):c.494C>A (p.Pro165His)	OAS1 (P165H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3712711	NM_016816.4(OAS1):c.124A>C (p.Lys42Gln)	LOC130008812, OAS1 (K42Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3711654	NM_016816.4(OAS1):c.621C>T (p.Ser207=)	OAS1 (P192S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3708865	NM_016816.4(OAS1):c.1038+5G>A	OAS1 (R190K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3702058	NM_016816.4(OAS1):c.49G>A (p.Glu17Lys)	LOC130008812, OAS1 (E17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3697085	NM_016816.4(OAS1):c.841C>G (p.Pro281Ala)	OAS1 (P281A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3694737	NM_016816.4(OAS1):c.323C>T (p.Ala108Val)	OAS1 (A108V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3692421	NM_016816.4(OAS1):c.998A>G (p.Lys333Arg)	OAS1 (K325R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3691463	NM_016816.4(OAS1):c.-1_2del (p.Met2del)	LOC130008812, OAS1 (M2del)	Deletion (initiator_codon_variant +1 more)	not provided	GUncertain significance
Select item 3686512	NM_016816.4(OAS1):c.1147C>T (p.Leu383Phe)	OAS1 (T342I +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3684720	NM_016816.4(OAS1):c.112T>C (p.Cys38Arg)	LOC130008812, OAS1 (C38R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3684591	NM_016816.4(OAS1):c.885-14A>G	OAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3684397	NM_016816.4(OAS1):c.297C>A (p.Ile99=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3682895	NM_016816.4(OAS1):c.180+10G>T	LOC130008812, OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3682887	NM_016816.4(OAS1):c.143G>T (p.Gly48Val)	LOC130008812, OAS1 (G48V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3681465	NM_016816.4(OAS1):c.470-7C>G	OAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3679392	NM_016816.4(OAS1):c.498C>A (p.Asn166Lys)	OAS1 (N166K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3675599	NM_016816.4(OAS1):c.180+11G>C	LOC130008812, OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3672137	NM_016816.4(OAS1):c.1042G>A (p.Glu348Lys)	OAS1 (E340K +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3671932	NM_016816.4(OAS1):c.181-9C>T	OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3670454	NM_016816.4(OAS1):c.822G>A (p.Lys274=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3670262	NM_016816.4(OAS1):c.1039-18T>A	OAS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3668498	NM_016816.4(OAS1):c.365A>G (p.Gln122Arg)	OAS1 (Q122R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3665913	NM_016816.4(OAS1):c.403G>C (p.Val135Leu)	OAS1 (V135L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 3664990	NM_016816.4(OAS1):c.427del (p.Glu143fs)	OAS1 (E143fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3661705	NM_016816.4(OAS1):c.193G>T (p.Gly65Cys)	OAS1 (G65C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3660895	NM_016816.4(OAS1):c.889G>A (p.Val297Met)	OAS1 (V297M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3657131	NM_016816.4(OAS1):c.469+10C>T	OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3651538	NM_016816.4(OAS1):c.695T>A (p.Leu232Gln)	OAS1 (L74Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3647216	NM_016816.4(OAS1):c.1087C>T (p.Gln363Ter)	OAS1 (Q363* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 3630229	NM_016816.4(OAS1):c.169A>G (p.Lys57Glu)	LOC130008812, OAS1 (K57E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3629167	NM_016816.4(OAS1):c.648C>T (p.Tyr216=)	OAS1 (P201S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3624050	NM_016816.4(OAS1):c.175G>A (p.Val59Ile)	LOC130008812, OAS1 (V59I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3622898	NM_016816.4(OAS1):c.1140C>T (p.Pro380=)	OAS1 (Q190* +2 more)	Single nucleotide variant (nonsense +4 more)	not provided	GLikely benign
Select item 3616059	NM_016816.4(OAS1):c.786C>T (p.Val262=)	OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3615921	NM_016816.4(OAS1):c.654+4T>C	OAS1 (M204T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3614698	NM_016816.4(OAS1):c.1095T>C (p.Tyr365=)	OAS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign

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