"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 94092	NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)	SCN1A-AS1, SCN9A (D1919G)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 3255272	NM_001365536.1(SCN9A):c.4775-54C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	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 3255267	NM_001365536.1(SCN9A):c.4206+77A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256797	NM_001365536.1(SCN9A):c.3802-70C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255304	NM_001365536.1(SCN9A):c.3628-58dup	SCN1A-AS1, SCN9A	Duplication (intron variant)	not specified	GBenign
Select item 440255	NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)	SCN9A, SCN1A-AS1 (W1161R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 3255235	NM_001365536.1(SCN9A):c.3352-7381G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 94090	NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)	SCN9A, SCN1A-AS1 (V1002L)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GConflicting classifications of pathogenicity
Select item 94089	NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)	SCN1A-AS1, SCN9A (M943L)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 3255305	NM_001365536.1(SCN9A):c.2518-80C>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255292	NM_001365536.1(SCN9A):c.2517+72A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	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 3255293	NM_001365536.1(SCN9A):c.1975-72dup	SCN1A-AS1, SCN9A	Duplication (intron variant)	not specified	GBenign
Select item 3255286	NM_001365536.1(SCN9A):c.1974+8C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified	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 130254	NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not specified +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 139076	NM_001365536.1(SCN9A):c.688+13T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 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 3255241	NM_001365536.1(SCN9A):c.378-90T>A	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256836	NM_001365536.1(SCN9A):c.377+94A>G	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256834	NM_001365536.1(SCN9A):c.377+93G>T	SCN9A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255239	NM_001365536.1(SCN9A):c.259-79G>A	SCN9A	Single nucleotide variant (intron variant)	not specified	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

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Items: 29