C0014805[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130270	NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 258888	NM_001365536.1(SCN9A):c.4774+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 more	GBenign
Select item 167657	NM_001365536.1(SCN9A):c.4399-10_4399-7del	SCN1A-AS1, SCN9A	Microsatellite (intron variant)	not specified +9 more	GBenign
Select item 440255	NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)	SCN9A, SCN1A-AS1 (W1161R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +6 more	GBenign
Select item 167659	NM_001365536.1(SCN9A):c.2105-14C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GBenign
Select item 130257	NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 130256	NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 1332925	NM_001365536.1(SCN9A):c.1107+48C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GBenign
Select item 1332926	NM_001365536.1(SCN9A):c.596+25C>T	SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GBenign
Select item 130269	NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)	SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 130259	NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)	SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign