ClinVar for MedGen (Select 1786758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3239880	NM_001164508.2(NEB):c.6265del (p.His2089fs)	NEB (H2089fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239879	NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)	NEB (W3633* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3239878	NM_001164508.2(NEB):c.249_255del (p.Pro84fs)	NEB (P84fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239877	NM_001164508.2(NEB):c.49del (p.Glu17fs)	NEB (E17fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239876	NM_001164508.2(NEB):c.10452+1G>C	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239875	NM_001164508.2(NEB):c.25305dup (p.His8436fs)	NEB, RIF1 (H6580fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239874	NM_001164508.2(NEB):c.8687del (p.Asn2896fs)	NEB (N2896fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239873	NM_001164508.2(NEB):c.10683C>A (p.Tyr3561Ter)	NEB (Y3318* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239872	NM_001164508.2(NEB):c.3498_3517dup (p.Asp1173fs)	NEB (D1173fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239871	NM_001164508.2(NEB):c.23330del (p.Lys7777fs)	NEB, RIF1 (K6076fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239870	NM_001164508.2(NEB):c.22272_22272+3del	NEB, RIF1	Deletion (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239869	NM_001164508.2(NEB):c.19303_19304delinsG (p.Leu6435fs)	NEB (L4734fs +1 more)	Indel (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239868	NM_001164508.2(NEB):c.1646del (p.His549fs)	NEB (H549fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239867	NM_001164508.2(NEB):c.21007A>T (p.Lys7003Ter)	NEB (K5302* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239866	NM_001164508.2(NEB):c.1129del (p.Ala377fs)	NEB (A377fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239865	NM_001164508.2(NEB):c.2772C>G (p.Tyr924Ter)	NEB (Y924*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239864	NM_001164508.2(NEB):c.402+1G>A	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239863	NM_001164508.2(NEB):c.16204A>T (p.Lys5402Ter)	NEB (K5402*)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239862	NM_001164508.2(NEB):c.5971-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239861	NM_001164508.2(NEB):c.20929A>T (p.Lys6977Ter)	NEB (K5276* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239860	NM_001164508.2(NEB):c.24190C>T (p.Gln8064Ter)	NEB, RIF1 (Q8064* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239859	NM_001164508.2(NEB):c.20683-2A>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239858	NM_001164508.2(NEB):c.21956_21957dup (p.Glu7320fs)	NEB, RIF1 (E5619fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239857	NM_001164508.2(NEB):c.2173G>T (p.Glu725Ter)	NEB (E725*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239856	NM_001164508.2(NEB):c.13234del (p.Ala4412fs)	NEB (A4412fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239855	NM_001164508.2(NEB):c.10592T>A (p.Leu3531Ter)	NEB (L3288* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239854	NM_001164508.2(NEB):c.5482_5485del (p.Lys1828fs)	NEB (K1828fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239853	NM_001164508.2(NEB):c.20243_20249del (p.Thr6748fs)	NEB (T5047fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2897664	NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)	NEB, RIF1 (Y7796fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2845042	NM_001164508.2(NEB):c.7900del (p.Leu2634fs)	NEB (L2634fs)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 2740370	NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)	NEB (Y3973fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2739878	NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)	NEB (M2849fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2697656	NM_001164508.2(NEB):c.24798del (p.Gln8267fs)	NEB, RIF1 (Q6411fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677169	NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)	NEB (S1712fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677168	NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)	NEB	Microsatellite (nonsense +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677167	NM_001164508.2(NEB):c.1264del (p.Tyr422fs)	NEB (Y422fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677166	NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)	NEB (K1062*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677165	NM_001164508.2(NEB):c.8293del (p.Ala2765fs)	NEB (A2765fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677164	NM_001164508.2(NEB):c.6752_6753insATCA (p.Met2251fs)	NEB (M2251fs)	Insertion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677163	NM_001164508.2(NEB):c.288_290delinsAA (p.Phe96fs)	NEB (F96fs)	Indel (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677162	NM_001164508.2(NEB):c.3042+2T>G	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677161	NM_001164508.2(NEB):c.3123del (p.Val1042fs)	NEB (V1042fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677160	NM_001164508.2(NEB):c.4300-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 2677159	NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)	NEB (K1181*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677158	NM_001164508.2(NEB):c.168_171dup (p.Ala58fs)	NEB (A58fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677157	NM_001164508.2(NEB):c.3537_3540del (p.Ser1180fs)	NEB (S1180fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677156	NM_001164508.2(NEB):c.7227+1G>A	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677155	NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)	NEB (Y2515fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677154	NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)	NEB (L427*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677153	NM_001164508.2(NEB):c.4356del (p.Ile1452fs)	NEB (I1452fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677152	NM_001164508.2(NEB):c.2424_2425del (p.Tyr808_Lys809delinsTer)	NEB	Microsatellite (nonsense +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677151	NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)	NEB (Q1350*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677150	NM_001164508.2(NEB):c.14786del (p.Leu4929fs)	NEB (L4929fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677149	NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)	NEB (E5373* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677148	NM_001164508.2(NEB):c.9709del (p.Ile3237fs)	NEB (I2994fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677147	NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)	NEB (Y4957*)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677146	NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)	NEB (I4940fs)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677145	NM_001164508.2(NEB):c.20290del (p.Met6764fs)	NEB (M5063fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677144	NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)	NEB, RIF1 (H5713fs +2 more)	Insertion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677143	NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)	NEB (I3309fs +1 more)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677142	NM_001164508.2(NEB):c.20659dup (p.Arg6887fs)	NEB (R5186fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677141	NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)	NEB, RIF1 (Q8126fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 2677140	NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)	NEB (K1342fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677139	NM_001164508.2(NEB):c.13115dup (p.Ser4373fs)	NEB (S4373fs)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677138	NM_001164508.2(NEB):c.24248del (p.Pro8083fs)	NEB, RIF1 (P8083fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic

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