"SMS-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634494	NM_004595.5(SMS):c.13C>T (p.Arg5Trp)	LOC130068040, SMS (R5W)	Single nucleotide variant (missense variant)	SMS-related disorder	GUncertain significance
Select item 2630057	NM_004595.5(SMS):c.111G>T (p.Glu37Asp)	SMS (E37D)	Single nucleotide variant (missense variant)	SMS-related disorder	GUncertain significance
Select item 2630815	NM_004595.5(SMS):c.200G>T (p.Gly67Val)	SMS (G67V)	Single nucleotide variant (missense variant +1 more)	SMS-related disorder	GLikely pathogenic
Select item 590234	NM_004595.5(SMS):c.561A>G (p.Glu187=)	SMS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2633550	NM_004595.5(SMS):c.620A>C (p.Glu207Ala)	SMS (E154A +1 more)	Single nucleotide variant (missense variant)	SMS-related disorder	GUncertain significance
Select item 3061643	NM_004595.5(SMS):c.661-1C>T	SMS	Single nucleotide variant (splice acceptor variant)	SMS-related disorder	GLikely pathogenic
Select item 2633812	NM_004595.5(SMS):c.758T>G (p.Ile253Arg)	SMS (I200R +1 more)	Single nucleotide variant (missense variant)	SMS-related disorder	GUncertain significance
Select item 3036093	NM_004595.5(SMS):c.936T>C (p.Tyr312=)	SMS	Single nucleotide variant (synonymous variant)	SMS-related disorder	GLikely benign
Select item 3036688	NM_004595.5(SMS):c.966A>C (p.Thr322=)	SMS	Single nucleotide variant (synonymous variant)	SMS-related disorder	GLikely benign
Select item 3047524	NM_004595.5(SMS):c.1020A>G (p.Glu340=)	SMS	Single nucleotide variant (synonymous variant)	SMS-related disorder	GLikely benign
Select item 193675	NM_004595.5(SMS):c.1026A>C (p.Ser342=)	SMS	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign