Related gene-specific medical variations for Gene (Select 11154) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171654	NM_001083893.2(STRN3):c.233G>T (p.Arg78Leu)	AP4S1, LOC130055445 +1 more (R78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067846	NM_001254729.1(AP4S1):c.226_294del	AP4S1	Deletion	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 2615059	NM_001083893.2(STRN3):c.179C>G (p.Pro60Arg)	AP4S1, LOC130055445 +1 more (P60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590822	NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)	AP4S1, LOC130055445 +1 more (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545154	NM_001083893.2(STRN3):c.106G>A (p.Gly36Arg)	AP4S1, LOC130055445 +1 more (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532256	NM_001083893.2(STRN3):c.85G>A (p.Gly29Ser)	AP4S1, LOC130055445 +1 more (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531781	NM_001083893.2(STRN3):c.98G>A (p.Gly33Glu)	AP4S1, LOC130055445 +1 more (G33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2439139	NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)	AP4S1 (E51G)	Single nucleotide variant (missense variant)	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 2253337	NM_001083893.2(STRN3):c.205C>G (p.Leu69Val)	AP4S1, LOC130055445 +1 more (L69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251751	NM_001083893.2(STRN3):c.182A>G (p.Gln61Arg)	AP4S1, LOC130055445 +1 more (Q61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1344802	NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs)	AP4S1 (I80fs)	Insertion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344801	NM_001128126.3(AP4S1):c.139-2A>G	AP4S1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344800	NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)	AP4S1 (S17fs)	Duplication (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 380897	NM_001083893.2(STRN3):c.282+122C>T	AP4S1, STRN3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign