"GeneDx"[submitter] AND "LOC130056709"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145040	GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GLikely benign
Select item 695853	NM_144599.5(NIPA1):c.21_23del (p.Ala16del)	LOC130056709, NIPA1 (A16del)	Deletion (inframe_deletion +1 more)	not provided +2 more	GBenign/Likely benign
Select item 533362	NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 380931	NM_144599.5(NIPA1):c.21A>G (p.Ala7=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6 +2 more	GConflicting classifications of pathogenicity
Select item 241882	NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 6 +3 more	GBenign/Likely benign
Select item 193496	NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 412532	NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	not specified +2 more	GBenign/Likely benign
Select item 241881	NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del)	LOC130056709, NIPA1	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 193495	NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)	LOC130056709, NIPA1 (A16del)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 6 +3 more	GBenign/Likely benign
Select item 887002	NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg)	LOC130056709, NIPA1 (G17R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6 +1 more	GUncertain significance
Select item 430546	NM_144599.5(NIPA1):c.71G>C (p.Ser24Thr)	LOC130056709, NIPA1 (S24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2520	NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)	LOC130056709, NIPA1 (T45R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1307912	NM_144599.5(NIPA1):c.160G>C (p.Val54Leu)	LOC130056709, NIPA1 (V54L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance