ClinVar for Gene (Select 4703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369989	NM_001164508.2(NEB):c.19533G>T (p.Glu6511Asp)	LOC126806373, NEB (E4810D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367031	NM_001164508.2(NEB):c.1675-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 3366596	NM_001164508.2(NEB):c.3758C>A (p.Thr1253Lys)	NEB (T1253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366580	NM_001164508.2(NEB):c.6934T>A (p.Tyr2312Asn)	NEB (Y2312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365997	NM_001164508.2(NEB):c.20872G>T (p.Ala6958Ser)	NEB (A5257S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365903	NM_001164508.2(NEB):c.2434T>A (p.Trp812Arg)	NEB (W812R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364465	NM_001164508.2(NEB):c.17972A>G (p.Glu5991Gly)	NEB (E4290G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364084	NM_001164508.2(NEB):c.7234T>A (p.Tyr2412Asn)	NEB (Y2412N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362625	NM_001164508.2(NEB):c.24332C>T (p.Thr8111Ile)	NEB, RIF1 (T8111I +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 3362623	NM_001164508.2(NEB):c.24332C>A (p.Thr8111Asn)	NEB, RIF1 (T8111N +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 3357287	NM_001164508.2(NEB):c.13057G>A (p.Asp4353Asn)	NEB (D4353N)	Single nucleotide variant (missense variant +1 more)	NEB-related disorder	GUncertain significance
Select item 3356056	NM_001164508.2(NEB):c.12070del (p.Gln4024fs)	NEB (Q3781fs +1 more)	Deletion (frameshift variant)	NEB-related disorder	GLikely pathogenic
Select item 3354895	NM_001164508.2(NEB):c.7536+5G>A	NEB	Single nucleotide variant (intron variant)	NEB-related disorder	GUncertain significance
Select item 3349432	NM_001164508.2(NEB):c.15880G>A (p.Asp5294Asn)	NEB (D5294N)	Single nucleotide variant (missense variant +1 more)	NEB-related disorder	GUncertain significance
Select item 3348439	NM_001164508.2(NEB):c.18444C>A (p.Ser6148=)	NEB	Single nucleotide variant (synonymous variant)	NEB-related disorder	GLikely benign
Select item 3347758	NM_001164508.2(NEB):c.10868G>A (p.Ser3623Asn)	NEB (S3380N +1 more)	Single nucleotide variant (missense variant)	NEB-related disorder	GUncertain significance
Select item 3345087	NM_001164508.2(NEB):c.6496-3T>C	NEB	Single nucleotide variant (intron variant)	NEB-related disorder	GLikely benign
Select item 3344414	NM_001164508.2(NEB):c.13251dup (p.Gln4418fs)	NEB (Q4418fs)	Duplication (frameshift variant +1 more)	NEB-related disorder	GLikely pathogenic
Select item 3343685	NM_001164508.2(NEB):c.20677A>G (p.Ser6893Gly)	NEB (S5192G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343665	NM_001164508.2(NEB):c.20672T>G (p.Leu6891Arg)	NEB (L5190R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342905	NM_001164508.2(NEB):c.22606G>A (p.Asp7536Asn)	RIF1, NEB (D5835N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341932	NM_001164508.2(NEB):c.1955C>G (p.Thr652Ser)	NEB (T652S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339787	NM_001164508.2(NEB):c.16120A>G (p.Ser5374Gly)	NEB (S5374G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339757	NM_001164508.2(NEB):c.410A>G (p.Tyr137Cys)	NEB (Y137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339295	NM_001164508.2(NEB):c.17535+5T>C	NEB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339219	NM_001164508.2(NEB):c.10301C>T (p.Ser3434Phe)	NEB (S3191F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338898	NM_001164508.2(NEB):c.11978C>G (p.Ser3993Cys)	NEB (S3750C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336043	NM_001164508.2(NEB):c.8317C>T (p.Arg2773Trp)	NEB (R2773W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3299105	NM_001164508.2(NEB):c.9750A>C (p.Glu3250Asp)	NEB (E3250D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299104	NM_001164508.2(NEB):c.22559T>C (p.Val7520Ala)	NEB, RIF1 (V5819A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299102	NM_001164508.2(NEB):c.5978A>G (p.Tyr1993Cys)	NEB (Y1993C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299101	NM_001164508.2(NEB):c.2723C>T (p.Ser908Phe)	NEB (S908F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299100	NM_001164508.2(NEB):c.7979A>G (p.Gln2660Arg)	NEB (Q2660R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299099	NM_001164508.2(NEB):c.5283T>A (p.His1761Gln)	NEB (H1761Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299098	NM_001164508.2(NEB):c.19664T>C (p.Ile6555Thr)	NEB (I4854T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299096	NM_001164508.2(NEB):c.19637A>C (p.Lys6546Thr)	NEB (K6546T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299095	NM_001164508.2(NEB):c.4898G>A (p.Ser1633Asn)	NEB (S1633N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299094	NM_001164508.2(NEB):c.2194C>G (p.Leu732Val)	NEB (L732V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299092	NM_001164508.2(NEB):c.12295A>G (p.Ile4099Val)	NEB (I3856V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257446	NM_001164508.2(NEB):c.17436T>C (p.Val5812=)	NEB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253043	NM_001164508.2(NEB):c.926C>T (p.Thr309Ile)	NEB (T309I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251535	NM_001164508.2(NEB):c.9864C>A (p.Leu3288=)	NEB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251419	NM_001164508.2(NEB):c.23276C>G (p.Ala7759Gly)	NEB, RIF1 (A6058G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251238	GRCh37/hg19 2q23.3(chr2:152492741-152495898)x1	NEB	Copy number loss	not provided	GPathogenic
Select item 3251068	NM_001164508.2(NEB):c.23129_23133dup (p.Tyr7712fs)	NEB, RIF1 (Y6011fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3247273	NC_000002.11:g.(?_152483537)_(152487591_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247272	NC_000002.11:g.(?_152490288)_(152493899_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247270	NC_000002.11:g.(?_152490172)_(152500335_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247269	NC_000002.11:g.(?_152511637)_(152512693_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247268	NC_000002.11:g.(?_152518793)_(152528469_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247267	NC_000002.11:g.(?_152541945)_(152544192_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247266	NC_000002.11:g.(?_152375260)_(152376281_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247265	NC_000002.11:g.(?_152417188)_(152418728_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247264	NC_000002.11:g.(?_152420500)_(152423885_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247263	NC_000002.11:g.(?_152492904)_(152495879_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247262	NC_000002.11:g.(?_152466303)_(152499887_?)dup	NEB	Duplication	Nemaline myopathy 2	GUncertain significance
Select item 3247261	NC_000002.11:g.(?_152484031)_(152500325_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247259	NC_000002.11:g.(?_152496863)_(152500325_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247258	NC_000002.11:g.(?_152499068)_(152499887_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247257	NC_000002.11:g.(?_152496849)_(152500663_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247256	NC_000002.11:g.(?_152499068)_(152500663_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247255	NC_000002.11:g.(?_152520042)_(152521397_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247254	NC_000002.11:g.(?_152382464)_(152385410_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247253	NC_000002.11:g.(?_152466303)_(152554182_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3247252	NC_000002.11:g.(?_152550817)_(152554182_?)del	NEB	Deletion	Nemaline myopathy 2	GPathogenic
Select item 3241998	NM_001164508.2(NEB):c.8222_8232del (p.Pro2741fs)	NEB (P2741fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239915	NM_001164508.2(NEB):c.17737-2A>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3239914	NM_001164508.2(NEB):c.39del (p.Tyr14fs)	NEB (Y14fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239913	NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)	NEB (S3737* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239912	NM_001164508.2(NEB):c.14805del (p.Asn4936fs)	NEB (N4936fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239910	NM_001164508.2(NEB):c.1214_1215dup (p.Lys406fs)	NEB (K406fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239909	NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)	NEB (W3082* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239908	NM_001164508.2(NEB):c.10274del (p.Lys3425fs)	NEB (K3182fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239907	NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)	NEB (E4216* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239906	NM_001164508.2(NEB):c.751del (p.Ala251fs)	NEB (A251fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239905	NM_001164508.2(NEB):c.2559del (p.Lys854_Met855insTer)	NEB	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239904	NM_001164508.2(NEB):c.16490_16505del (p.Leu5497fs)	NEB (L5497fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239903	NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)	NEB (W1687*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239902	NM_001164508.2(NEB):c.23533G>T (p.Glu7845Ter)	NEB, RIF1 (E6144* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239901	NM_001164508.2(NEB):c.24108_24112dup (p.Ser8038fs)	NEB, RIF1 (S8038fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239900	NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)	NEB (Y2412*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239899	NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)	NEB, RIF1 (E5936* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3239898	NM_001164508.2(NEB):c.18588C>G (p.Tyr6196Ter)	NEB (Y4495* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239897	NM_001164508.2(NEB):c.22598dup (p.Tyr7533Ter)	NEB, RIF1 (Y5832* +2 more)	Duplication (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239896	NM_001164508.2(NEB):c.8138dup (p.Asn2713fs)	NEB (N2713fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239895	NM_001164508.2(NEB):c.2069del (p.His690fs)	NEB (H690fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239894	NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)	NEB (Y2204*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239893	NM_001164508.2(NEB):c.16929G>A (p.Trp5643Ter)	NEB (W3942* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239892	NM_001164508.2(NEB):c.22209C>G (p.Tyr7403Ter)	NEB, RIF1 (Y5702* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239891	NM_001164508.2(NEB):c.5244_5254delinsG (p.Tyr1749fs)	NEB (Y1749fs)	Indel (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239890	NM_001164508.2(NEB):c.24589A>T (p.Lys8197Ter)	NEB, RIF1 (K6341* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239889	NM_001164508.2(NEB):c.14724del (p.Leu4909fs)	NEB (L4909fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239888	NM_001164508.2(NEB):c.1263dup (p.Tyr422fs)	NEB (Y422fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3239887	NM_001164508.2(NEB):c.18262-1G>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239886	NM_001164508.2(NEB):c.8047del (p.Gln2683fs)	NEB (Q2683fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239885	NM_001164508.2(NEB):c.17013+1G>A	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239884	NM_001164508.2(NEB):c.24748C>T (p.Gln8250Ter)	NEB, RIF1 (Q6394* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239883	NM_001164508.2(NEB):c.21639C>A (p.Tyr7213Ter)	NEB, RIF1 (Y5512* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239882	NM_001164508.2(NEB):c.1400dup (p.Lys468fs)	NEB (K468fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239881	NM_001164508.2(NEB):c.24889_24890insGG (p.Asp8297fs)	NEB, RIF1 (D6441fs +2 more)	Insertion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic

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