ClinVar for MedGen (Select 1631944) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 656321	NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)	DNM2 (I232T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 562194	NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln)	DNM2 (R66Q)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +2 more	GUncertain significance
Select item 465285	NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)	DNM2 (G786C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 327987	NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)	DNM2 (H727Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 256866	NM_001005361.3(DNM2):c.236-29C>G	DNM2	Single nucleotide variant (intron variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +4 more	GBenign
Select item 238207	NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 158527	NM_001005361.3(DNM2):c.2543+7C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GBenign/Likely benign
Select item 60688	NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)	DNM2 (F379V)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +1 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)	Centronuclear myopathy	GPathogenic FDA Recognized database