"Ambry Genetics"[submitter] AND "IGHMBP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217448	NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)	IGHMBP2 (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 917101	NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)	IGHMBP2 (A2T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 466595	NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser)	IGHMBP2 (A2S)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GUncertain significance
Select item 1750387	NM_002180.3(IGHMBP2):c.58G>A (p.Glu20Lys)	IGHMBP2 (E20K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305830	NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)	IGHMBP2 (I35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 162194	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GPathogenic
Select item 948823	NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)	IGHMBP2 (S53F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 426960	NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)	IGHMBP2 (Q55H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 575884	NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)	IGHMBP2 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1037216	NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)	IGHMBP2 (R62G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1782472	NM_002180.3(IGHMBP2):c.190C>G (p.Leu64Val)	IGHMBP2 (L64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1513329	NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe)	IGHMBP2 (V65F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GUncertain significance
Select item 534940	NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 305831	NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1790986	NM_002180.3(IGHMBP2):c.241A>G (p.Asn81Asp)	IGHMBP2 (N81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 392162	NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 383811	NM_002180.3(IGHMBP2):c.273G>C (p.Leu91=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 377972	NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)	IGHMBP2	Single nucleotide variant (synonymous variant)	IGHMBP2-related condition +4 more	GBenign/Likely benign
Select item 246016	NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val)	IGHMBP2 (A95V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 1798141	NM_002180.3(IGHMBP2):c.295A>G (p.Ser99Gly)	IGHMBP2 (S99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 466594	NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)	IGHMBP2 (A102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1799336	NM_002180.3(IGHMBP2):c.305C>A (p.Ala102Asp)	IGHMBP2 (A102D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287979	NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)	IGHMBP2 (T115M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 513828	NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GLikely benign
Select item 386961	NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)	IGHMBP2 (S121F)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 305832	NM_002180.3(IGHMBP2):c.366C>T (p.His122=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 1735779	NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu)	IGHMBP2 (D129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 643169	NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln)	IGHMBP2 (R130Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 653194	NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)	IGHMBP2 (E131D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 521206	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2 (R147*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 664193	NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)	IGHMBP2 (R147Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1063394	NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr)	IGHMBP2 (A151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1742843	NM_002180.3(IGHMBP2):c.475_477del (p.His159del)	IGHMBP2 (H159del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 694854	NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)	IGHMBP2 (A199V)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GUncertain significance
Select item 1751325	NM_002180.3(IGHMBP2):c.605T>C (p.Phe202Ser)	IGHMBP2 (F202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265423	NM_002180.3(IGHMBP2):c.631A>G (p.Ile211Val)	IGHMBP2 (I211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 466596	NM_002180.3(IGHMBP2):c.639T>C (p.His213=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 305834	NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1756829	NM_002180.3(IGHMBP2):c.703G>A (p.Gly235Ser)	IGHMBP2 (G235S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841175	NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)	IGHMBP2 (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 305837	NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 305836	NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1033903	NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser)	IGHMBP2 (P243S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 245931	NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val)	IGHMBP2 (I246V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 1360513	NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr)	IGHMBP2 (A247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 198145	NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +5 more	GBenign/Likely benign
Select item 534924	NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys)	IGHMBP2 (R254C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 246563	NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)	IGHMBP2 (R254H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +4 more	GUncertain significance
Select item 218603	NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)	IGHMBP2 (A256G)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 577730	NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)	IGHMBP2 (R264H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 198146	NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)	IGHMBP2 (H278D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2480372	NM_002180.3(IGHMBP2):c.838C>G (p.Leu280Val)	IGHMBP2 (L280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763453	NM_002180.3(IGHMBP2):c.845C>T (p.Ala282Val)	IGHMBP2 (A282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763809	NM_002180.3(IGHMBP2):c.854C>T (p.Ala285Val)	IGHMBP2 (A285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198143	NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 234714	NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)	IGHMBP2 (R286Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 520707	NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)	IGHMBP2 (S287R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1765229	NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)	IGHMBP2 (K298N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305838	NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)	IGHMBP2 (D301N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1765911	NM_002180.3(IGHMBP2):c.912T>C (p.Phe304=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 1765924	NM_002180.3(IGHMBP2):c.913-5T>C	IGHMBP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 944669	NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)	IGHMBP2 (N307H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GUncertain significance
Select item 439817	NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)	IGHMBP2 (K309E)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GUncertain significance
Select item 1546291	NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp)	IGHMBP2 (N318D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 305840	NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2288221	NM_002180.3(IGHMBP2):c.1014G>A (p.Met338Ile)	IGHMBP2 (M338I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 305841	NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)	IGHMBP2 (L339F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 515489	NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 466572	NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)	IGHMBP2 (A355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 618178	NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GLikely benign
Select item 245627	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2 (L361P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 2309470	NM_002180.3(IGHMBP2):c.1102T>C (p.Tyr368His)	IGHMBP2 (Y368H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 198778	NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 245628	NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn)	IGHMBP2 (D370N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 305842	NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 513535	NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GLikely benign
Select item 466573	NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 637456	NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	IGHMBP2 (E382K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 234786	NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val)	IGHMBP2 (A383V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 573815	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2 (W386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 637274	NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)	IGHMBP2 (C395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 234315	NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)	IGHMBP2 (A398V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 305843	NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GConflicting classifications of pathogenicity
Select item 1010569	NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)	IGHMBP2 (P405S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GUncertain significance
Select item 510072	NM_002180.3(IGHMBP2):c.1236-6G>C	IGHMBP2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 385061	NM_002180.3(IGHMBP2):c.1236-6G>A	IGHMBP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 735245	NM_002180.3(IGHMBP2):c.1236-5C>T	IGHMBP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 305844	NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 245837	NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)	IGHMBP2 (A432V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GConflicting classifications of pathogenicity
Select item 856821	NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)	IGHMBP2 (R436W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GConflicting classifications of pathogenicity
Select item 2336480	NM_002180.3(IGHMBP2):c.1337A>C (p.Gln446Pro)	IGHMBP2 (Q446P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305845	NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)	IGHMBP2 (A447G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1770450	NM_002180.3(IGHMBP2):c.1345A>G (p.Met449Val)	IGHMBP2 (M449V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498676	NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1772166	NM_002180.3(IGHMBP2):c.1418+4A>G	IGHMBP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1440513	NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 305846	NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)	IGHMBP2 (D474E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 854529	NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)	IGHMBP2 (L475F)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GUncertain significance
Select item 217450	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2 (T493I)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 507676	NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign

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