"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCN11A"[g - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474745	NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val)	SCN11A (G1736V)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 858944	NM_001349253.2(SCN11A):c.5046C>T (p.Cys1682=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder +2 more	GLikely benign
Select item 3045939	NM_001349253.2(SCN11A):c.4974T>A (p.Arg1658=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder	GLikely benign
Select item 708505	NM_001349253.2(SCN11A):c.4959G>A (p.Leu1653=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GLikely benign
Select item 474738	NM_001349253.2(SCN11A):c.4950T>C (p.Ala1650=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +4 more	GBenign/Likely benign
Select item 3051530	NM_001349253.2(SCN11A):c.4779C>T (p.Leu1593=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder	GLikely benign
Select item 1741888	NM_001349253.2(SCN11A):c.4610_4611del (p.Phe1537fs)	SCN11A (F1537fs)	Deletion (frameshift variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GUncertain significance
Select item 2636485	NM_001349253.2(SCN11A):c.4363A>T (p.Ile1455Phe)	SCN11A (I1455F)	Single nucleotide variant (missense variant)	SCN11A-related disorder	GUncertain significance
Select item 541595	NM_001349253.2(SCN11A):c.4308C>T (p.Val1436=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 474721	NM_001349253.2(SCN11A):c.4272C>T (p.Tyr1424=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1129832	NM_001349253.2(SCN11A):c.3864C>T (p.Phe1288=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GLikely benign
Select item 474723	NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=)	SCN11A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3029941	NM_001349253.2(SCN11A):c.3813+10T>C	SCN11A	Single nucleotide variant (intron variant)	SCN11A-related disorder	GLikely benign
Select item 2049299	NM_001349253.2(SCN11A):c.3636C>T (p.Asp1212=)	LOC126806652, SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder +2 more	GLikely benign
Select item 3054009	NM_001349253.2(SCN11A):c.3540T>C (p.Asn1180=)	LOC126806652, SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder	GLikely benign
Select item 771644	NM_001349253.2(SCN11A):c.3006C>T (p.Gly1002=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GBenign/Likely benign
Select item 260336	NM_001349253.2(SCN11A):c.2950-19G>C	SCN11A	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GBenign
Select item 260335	NM_001349253.2(SCN11A):c.2725G>A (p.Val909Ile)	SCN11A (V909I)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GBenign
Select item 474708	NM_001349253.2(SCN11A):c.2646C>T (p.Pro882=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 703323	NM_001349253.2(SCN11A):c.2549T>C (p.Leu850Pro)	SCN11A (L850P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2634482	NM_001349253.2(SCN11A):c.2462G>A (p.Gly821Glu)	SCN11A (G821E)	Single nucleotide variant (missense variant)	SCN11A-related disorder	GUncertain significance
Select item 474701	NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu)	SCN11A (P738L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1562562	NM_001349253.2(SCN11A):c.1948C>T (p.Leu650Phe)	SCN11A (L650F)	Single nucleotide variant (missense variant)	SCN11A-related disorder +3 more	GLikely benign
Select item 260334	NM_001349253.2(SCN11A):c.1638T>C (p.Cys546=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GBenign
Select item 704094	NM_001349253.2(SCN11A):c.1105C>T (p.Leu369=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder +2 more	GLikely benign
Select item 1133069	NM_001349253.2(SCN11A):c.378A>C (p.Ser126=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GLikely benign
Select item 662383	NM_001349253.2(SCN11A):c.268-3C>T	SCN11A	Single nucleotide variant (intron variant)	SCN11A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 474709	NM_001349253.2(SCN11A):c.268-10dup	SCN11A	Duplication (intron variant)	SCN11A-related disorder +3 more	GBenign/Likely benign
Select item 541607	NM_001349253.2(SCN11A):c.201C>T (p.Gly67=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1651665	NM_001349253.2(SCN11A):c.153G>T (p.Arg51=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder +2 more	GLikely benign
Select item 474759	NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val)	SCN11A (A32V)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 541599	NM_001349253.2(SCN11A):c.48C>T (p.Phe16=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

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Items: 32