ClinVar for MedGen (Select 1714781) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024137	NM_003104.6(SORD):c.361G>C (p.Ala121Pro)	SORD (A121P)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GLikely pathogenic
Select item 2664964	NM_003104.6(SORD):c.50C>T (p.Pro17Leu)	SORD (P17L)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 2664713	NM_003104.6(SORD):c.553G>A (p.Gly185Arg)	SORD (G185R)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 2443692	NM_003104.6(SORD):c.851T>C (p.Leu284Pro)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 2443691	NM_003104.6(SORD):c.731C>T (p.Pro244Leu)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 2443690	NM_003104.6(SORD):c.776C>T (p.Ala259Val)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 2436239	NM_003104.6(SORD):c.287C>T (p.Pro96Leu)	SORD (P96L)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1805124	NM_003104.6(SORD):c.73_88del (p.Tyr25fs)	SORD (Y25fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1709947	NM_003104.6(SORD):c.306TGA[1] (p.Asp103del)	SORD (D103del)	Microsatellite (inframe_deletion +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1709111	NM_003104.6(SORD):c.787-3C>G	SORD	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1698070	NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)	SORD (G341*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1298619	NM_003104.6(SORD):c.935C>T (p.Ala312Val)	SORD (A312V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1280097	NM_003104.6(SORD):c.266-35C>T	SORD	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +1 more	GBenign
Select item 1275801	NM_003104.6(SORD):c.328C>T (p.Arg110Ter)	SORD (R110*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1261613	NM_003104.6(SORD):c.908+11C>T	SORD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229011	NM_003104.6(SORD):c.806A>C (p.Asn269Thr)	SORD (N269T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1012846	NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	SORD (A153D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 929257	NM_003104.6(SORD):c.895C>T (p.Arg299Ter)	SORD (R299*)	Single nucleotide variant (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic