"GeneDx"[submitter] AND "LOC130059818"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59541	GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1	ANKRD11, LOC100287036 +35 more	Copy number loss	See cases	GPathogenic
Select item 1228084	NC_000016.10:g.89508194dup	LOC101927863, LOC130059818 +1 more	Duplication	not provided	GBenign
Select item 1292099	NC_000016.10:g.89508277G>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1202937	NC_000016.10:g.89508278G>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1209194	NC_000016.10:g.89508295A>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 193253	NM_003119.4(SPG7):c.1A>G (p.Met1Val)	LOC130059818, SPG7 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7 +2 more	GPathogenic/Likely pathogenic
Select item 215198	NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	SPG7, LOC130059818 (A2T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +3 more	GConflicting classifications of pathogenicity
Select item 580781	NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 139252	NM_003119.4(SPG7):c.9G>T (p.Val3=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +3 more	GBenign/Likely benign
Select item 1344134	NM_003119.4(SPG7):c.20_25dup (p.Leu7_Leu8dup)	LOC130059818, SPG7	Duplication (inframe_insertion)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 515759	NM_003119.4(SPG7):c.21G>A (p.Leu7=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1344138	NM_003119.4(SPG7):c.50C>G (p.Pro17Arg)	LOC130059818, SPG7 (P17R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 514613	NM_003119.4(SPG7):c.57T>C (p.Pro19=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 215220	NM_003119.4(SPG7):c.58C>T (p.Arg20Trp)	LOC130059818, SPG7 (R20W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 646516	NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)	LOC130059818, SPG7 (W29*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 215200	NM_003119.4(SPG7):c.95G>A (p.Gly32Glu)	LOC130059818, SPG7 (G32E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 139253	NM_003119.4(SPG7):c.120G>A (p.Gly40=)	SPG7, LOC130059818	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity