LOC126861245[gene] - ClinVar

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Items: 65

	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 1215557	NM_002180.3(IGHMBP2):c.1537+160C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182508	NM_002180.3(IGHMBP2):c.1537+188C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681885	NM_002180.3(IGHMBP2):c.1537+198T>C	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178708	NM_002180.3(IGHMBP2):c.1538-257C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291019	NM_002180.3(IGHMBP2):c.1538-117C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2930823	NM_002180.3(IGHMBP2):c.1538-20C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 258558	NM_002180.3(IGHMBP2):c.1538-20C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 916744	NM_002180.3(IGHMBP2):c.1538-19G>A	LOC126861245, IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 917332	NM_002180.3(IGHMBP2):c.1538-11_1538-8del	IGHMBP2, LOC126861245	Microsatellite (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GLikely benign
Select item 2952866	NM_002180.3(IGHMBP2):c.1538-9T>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 258559	NM_002180.3(IGHMBP2):c.1538-8C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2940920	NM_002180.3(IGHMBP2):c.1538-7C>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2931010	NM_002180.3(IGHMBP2):c.1538-5T>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 1621415	NM_002180.3(IGHMBP2):c.1538-4C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1120796	NM_002180.3(IGHMBP2):c.1538-4C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 1630461	NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1406576	NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 9112	NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	IGHMBP2, LOC126861245 (E514K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 193854	NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)	IGHMBP2, LOC126861245 (R516C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 917012	NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)	IGHMBP2, LOC126861245 (R516H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GUncertain significance
Select item 466578	NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 649040	NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile)	IGHMBP2, LOC126861245 (V518I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 258560	NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 1375876	NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)	IGHMBP2, LOC126861245 (L520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 466579	NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)	IGHMBP2, LOC126861245 (H521Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 466580	NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg)	LOC126861245, IGHMBP2 (H521R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 1357165	NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val)	IGHMBP2, LOC126861245 (I522V)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 1019864	NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg)	IGHMBP2, LOC126861245 (Q523R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 1775513	NM_002180.3(IGHMBP2):c.1571C>G (p.Ala524Gly)	IGHMBP2, LOC126861245 (A524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2944074	NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 497345	NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GBenign/Likely benign
Select item 162198	NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)	IGHMBP2, LOC126861245 (A528T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 761584	NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 694858	NM_002180.3(IGHMBP2):c.1588_1589dup (p.Pro531fs)	IGHMBP2, LOC126861245 (P531fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 305847	NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 204302	NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)	IGHMBP2, LOC126861245	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 466581	NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GLikely benign
Select item 1430167	NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys)	IGHMBP2, LOC126861245 (R533C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 955122	NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)	IGHMBP2, LOC126861245 (R533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432239	NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)	IGHMBP2, LOC126861245 (I535V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 917095	NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)	IGHMBP2, LOC126861245 (I535M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GUncertain significance
Select item 2945117	NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 637276	NM_002180.3(IGHMBP2):c.1610T>A (p.Val537Glu)	IGHMBP2, LOC126861245 (V537E)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 767140	NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 637947	NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)	IGHMBP2, LOC126861245	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 245629	NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)	IGHMBP2, LOC126861245 (S539L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2193649	NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 641773	NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val)	IGHMBP2, LOC126861245 (L543V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 2929158	NM_002180.3(IGHMBP2):c.1632+1G>T	IGHMBP2, LOC126861245	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 1685353	NM_002180.3(IGHMBP2):c.1632+3del	IGHMBP2, LOC126861245	Deletion (intron variant)	Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 509916	NM_002180.3(IGHMBP2):c.1632+4C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2935643	NM_002180.3(IGHMBP2):c.1632+7G>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940511	NM_002180.3(IGHMBP2):c.1632+8G>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2930739	NM_002180.3(IGHMBP2):c.1632+12T>C	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2140347	NM_002180.3(IGHMBP2):c.1632+13C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2198958	NM_002180.3(IGHMBP2):c.1632+15T>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942551	NM_002180.3(IGHMBP2):c.1632+16T>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2935144	NM_002180.3(IGHMBP2):c.1632+19G>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 1196303	NM_002180.3(IGHMBP2):c.1632+28C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186402	NM_002180.3(IGHMBP2):c.1632+95C>T	LOC126861245, IGHMBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681886	NM_002180.3(IGHMBP2):c.1633-135C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260724	NM_002180.3(IGHMBP2):c.1633-124T>C	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 65