"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SCN11A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474743	NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)	SCN11A (F1689L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 541569	NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His)	SCN11A (R1658H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +3 more	GConflicting classifications of pathogenicity
Select item 3379451	NM_001349253.2(SCN11A):c.4081G>C (p.Asp1361His)	SCN11A (D1361H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920958	NM_001349253.2(SCN11A):c.3502G>A (p.Val1168Ile)	SCN11A, LOC126806652 (V1168I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1163827	NM_001349253.2(SCN11A):c.3449G>A (p.Arg1150Gln)	SCN11A (R1150Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364379	NM_001349253.2(SCN11A):c.2944C>G (p.Arg982Gly)	SCN11A (R982G)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 1693868	NM_001349253.2(SCN11A):c.2219G>T (p.Gly740Val)	SCN11A (G740V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 582088	NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)	SCN11A (G699R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 647431	NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr)	SCN11A (M657T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2682830	NM_001349253.2(SCN11A):c.1937G>A (p.Ser646Asn)	SCN11A (S646N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474698	NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val)	SCN11A (I643V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 541582	NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)	SCN11A (A582T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 653181	NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter)	SCN11A (R500*)	Single nucleotide variant (nonsense)	not provided +3 more	GUncertain significance
Select item 660988	NM_001349253.2(SCN11A):c.1403C>A (p.Ser468Tyr)	SCN11A (S468Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 575371	NM_001349253.2(SCN11A):c.1192GTT[1] (p.Val399del)	SCN11A (V399del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1685430	NM_001349253.2(SCN11A):c.712+1G>A	SCN11A	Single nucleotide variant (splice donor variant)	Hereditary sensory and autonomic neuropathy type 7 +3 more	GConflicting classifications of pathogenicity
Select item 474737	NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs)	SCN11A (G168fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1693869	NM_001349253.2(SCN11A):c.445G>T (p.Gly149Trp)	SCN11A (G149W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance