IGHMBP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 1182091	NM_181514.2(MRPL21):c.88+90T>C	MRPL21, IGHMBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668907	NM_181514.2(MRPL21):c.88+87T>C	IGHMBP2, MRPL21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201097	NM_181514.2(MRPL21):c.74C>T (p.Ser25Leu)	IGHMBP2, MRPL21 (S25L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1264772	NM_181514.2(MRPL21):c.2T>C (p.Met1Thr)	IGHMBP2, MRPL21 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1245933	NM_181514.2(MRPL21):c.-3_-2insGAAGATGGCGGCGG	IGHMBP2, MRPL21	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1706431	NC_000011.10:g.68903846del	IGHMBP2	Deletion	not provided	GLikely benign
Select item 305827	NM_002180.2(IGHMBP2):c.-68T>C	IGHMBP2	Single nucleotide variant	Autosomal recessive distal spinal muscular atrophy 1	GBenign
Select item 512775	NM_002180.3(IGHMBP2):c.-49G>C	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388783	NM_002180.3(IGHMBP2):c.-34C>G	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379725	NM_002180.3(IGHMBP2):c.-30G>C	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 305828	NM_002180.3(IGHMBP2):c.-28C>A	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GBenign
Select item 389694	NM_002180.3(IGHMBP2):c.-25C>T	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509231	NM_002180.3(IGHMBP2):c.-14G>C	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 806710	NM_002180.3(IGHMBP2):c.-5C>T	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 305829	NM_002180.3(IGHMBP2):c.-4G>A	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	Spinal muscular atrophy	GUncertain significance
Select item 258555	NM_002180.3(IGHMBP2):c.-2C>T	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
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 757423	NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 569975	NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala)	IGHMBP2 (S3A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 439818	NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr)	IGHMBP2 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413502	NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2935675	NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 986345	NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs)	IGHMBP2 (K12fs)	Insertion (frameshift variant)	Spinal muscular atrophy	GLikely pathogenic
Select item 2929993	NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 916742	NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)	IGHMBP2 (K12N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GBenign
Select item 2943661	NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2937689	NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2930359	NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)	IGHMBP2 (L16V)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 637458	NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro)	IGHMBP2 (L17P)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 534930	NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)	IGHMBP2	Inversion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 258575	NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign
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 572848	NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr)	IGHMBP2 (D22Y)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 2570804	NM_002180.3(IGHMBP2):c.66C>G (p.Asp22Glu)	IGHMBP2 (D22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084583	NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)	IGHMBP2 (E24K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 2951364	NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2932161	NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 578355	NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His)	IGHMBP2 (R28H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 2931459	NM_002180.3(IGHMBP2):c.86+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 3234847	NM_002180.3(IGHMBP2):c.86+2T>C	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 2933427	NM_002180.3(IGHMBP2):c.86+7G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 755475	NM_002180.3(IGHMBP2):c.86+7G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 2921451	NM_002180.3(IGHMBP2):c.86+9G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2922911	NM_002180.3(IGHMBP2):c.86+19G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1266248	NM_002180.3(IGHMBP2):c.86+240C>T	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207809	NM_002180.3(IGHMBP2):c.86+282A>G	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668744	NM_002180.3(IGHMBP2):c.87-268A>T	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199719	NM_002180.3(IGHMBP2):c.87-160G>A	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2944913	NM_002180.3(IGHMBP2):c.87-20C>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 258578	NM_002180.3(IGHMBP2):c.87-19A>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 2929214	NM_002180.3(IGHMBP2):c.87-14C>G	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2948636	NM_002180.3(IGHMBP2):c.87-13G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2922580	NM_002180.3(IGHMBP2):c.87-12G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2923430	NM_002180.3(IGHMBP2):c.87-11G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1923932	NM_002180.3(IGHMBP2):c.87-11G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2415373	NM_002180.3(IGHMBP2):c.87-9G>A	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 844829	NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)	IGHMBP2 (S30F)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 242499	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2 (W31*)	Single nucleotide variant (nonsense)	Clonus +8 more	GPathogenic
Select item 637266	NM_002180.3(IGHMBP2):c.94C>T (p.Gln32Ter)	IGHMBP2 (Q32*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 1023374	NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu)	IGHMBP2 (I35L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 305830	NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)	IGHMBP2 (I35V)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 1564780	NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 637698	NM_002180.3(IGHMBP2):c.114del (p.Glu39fs)	IGHMBP2 (E39fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 2934487	NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 637901	NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)	IGHMBP2 (Q41fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 9115	NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)	IGHMBP2 (Q41*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 228355	NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	IGHMBP2 (R43*)	Single nucleotide variant (nonsense)	Distal spinal muscular atrophy +4 more	GPathogenic
Select item 567358	NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln)	IGHMBP2 (R43Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 1570443	NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 195162	NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 640505	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2 (V45fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2432832	NM_002180.3(IGHMBP2):c.136T>G (p.Cys46Gly)	IGHMBP2 (C46G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2954300	NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 258557	NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)	IGHMBP2 (Q51E)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1511210	NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile)	IGHMBP2 (V52I)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 534934	NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu)	IGHMBP2 (V52L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
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 1536770	NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 637906	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2 (Q55*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 426960	NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)	IGHMBP2 (Q55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 534926	NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser)	IGHMBP2 (R56S)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 466582	NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys)	IGHMBP2 (R56C)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 546411	NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)	IGHMBP2 (R56H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1084108	NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2947727	NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1491414	NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala)	IGHMBP2 (G58A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 1131482	NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 1608771	NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 258562	NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
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 374170	NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)	IGHMBP2 (G61R)	Single nucleotide variant (missense variant)	Progressive muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 2935889	NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)	IGHMBP2 (G61E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 1310770	NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp)	IGHMBP2 (R62W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1089437	NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GLikely benign

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