ClinVar (all) for Orgtrack (Select 508123) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180446	NM_000393.5(COL5A2):c.1366G>T (p.Gly456Cys)	COL5A2 (G456C)	Single nucleotide variant (missense variant)	See cases	Gnot provided
Select item 1180445	NM_014946.4(SPAST):c.1031T>C (p.Ile344Thr)	SPAST (I311T +3 more)	Single nucleotide variant (missense variant)	See cases	Gnot provided
Select item 1180444	NM_017951.5(SMPD4):c.59_60del (p.Ser20fs)	SMPD4 (S20fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	See cases	Gnot provided
Select item 1180443	NM_017951.5(SMPD4):c.864G>C (p.Lys288Asn)	SMPD4 (K254N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	Gnot provided
Select item 1180442	NM_001267550.2(TTN):c.104714_104715delinsG (p.Phe34905fs)	TTN-AS1, TTN (F25840fs +5 more)	Indel (frameshift variant)	See cases	Gnot provided
Select item 1180441	NM_001374353.1(GLI2):c.2620dup (p.Ala874fs)	GLI2 (A749fs +2 more)	Duplication (frameshift variant)	See cases	Gnot provided
Select item 1180440	NM_001165963.4(SCN1A):c.2425G>A (p.Gly809Arg)	SCN1A (G780R +4 more)	Single nucleotide variant (missense variant +2 more)	See cases	Gnot provided
Select item 1180439	NM_001040142.2(SCN2A):c.986dup (p.Leu329fs)	SCN2A (L329fs)	Duplication (frameshift variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 1180438	NC_000002.12:g.47804639_48361567dup	FBXO11, FOXN2 +17 more	Duplication	See cases	Gnot provided
Select item 1180437	NC_000002.12:g.36472472_36866823dup	LOC122757918, LOC122757919 +9 more	Duplication	See cases	Gnot provided
Select item 1180436	NC_000002.12:g.46722010_46985532dup	LOC129933679, LOC129933680 +19 more	Duplication	not specified	Gnot provided
Select item 1180435	NC_000002.12:g.46297264_46409828dup	EPAS1, LINC01820 +4 more	Duplication	not specified	Gnot provided
Select item 1180434	NC_000002.12:g.46009609_46144092dup	LOC126806208, LOC126806209 +2 more	Duplication	not specified	Gnot provided
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 1180432	NC_000002.12:g.148082082_148203828del	MBD5	Deletion	See cases	Gnot provided
Select item 1180431	NC_000002.12:g.72371236_72504801del	EXOC6B	Deletion	See cases	Gnot provided
Select item 1180430	NC_000002.12:g.199340687_199391862dup	SATB2	Duplication	See cases	Gnot provided
Select item 597637	NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs)	TTN, TTN-AS1 (M17136fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 426934	NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)	KIF1A (R13C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GPathogenic/Likely pathogenic