"Genetic Services Laboratory, University of Chicago"[submitter] AND "D - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133978	NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)	DNM2 (V64I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 158525	NM_001005361.3(DNM2):c.235+6A>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GBenign/Likely benign
Select item 158524	NM_001005361.3(DNM2):c.235+12C>A	DNM2	Single nucleotide variant (intron variant)	Centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 137130	NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)	DNM2 (H80Y)	Single nucleotide variant (missense variant)	DNM2-related disorder +5 more	GBenign/Likely benign
Select item 210855	NM_001005361.3(DNM2):c.590-31CCTCTGA[3]	DNM2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 327976	NM_001005361.3(DNM2):c.633C>T (p.Asp211=)	DNM2	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 158528	NM_001005361.3(DNM2):c.822G>A (p.Thr274=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 158529	NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)	DNM2 (D320N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137131	NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 7282	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2 (E368K)	Single nucleotide variant (missense variant)	Centronuclear myopathy +5 more	GPathogenic
Select item 7280	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	DNM2 (R369W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 7279	NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	DNM2 (R369Q)	Single nucleotide variant (missense variant)	Centronuclear myopathy +3 more	GPathogenic
Select item 158513	NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)	DNM2 (V375E)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 7281	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	DNM2 (R465W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 158514	NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	DNM2 (R522H +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy +4 more	GPathogenic/Likely pathogenic
Select item 158515	NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)	DNM2 (R523G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 158516	NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 158517	NM_001005361.3(DNM2):c.1782-11C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GBenign
Select item 158518	NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 7285	NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	DNM2 (S619L +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +3 more	GPathogenic/Likely pathogenic
Select item 158519	NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)	DNM2 (L621P +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy +1 more	GPathogenic
Select item 158520	NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)	DNM2 (P627R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 158521	NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 210854	NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)	DNM2 (N658S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 327986	NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 158522	NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 158523	NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 158526	NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 158527	NM_001005361.3(DNM2):c.2543+7C>G	DNM2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign

ClinVar

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Items: 29