ClinVar for MedGen (Select 816212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246933	NC_000003.11:g.(?_38888185)_(38913805_?)dup	SCN11A	Duplication	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 3246932	NC_000003.11:g.(?_38888185)_(38889253_?)del	SCN11A	Deletion	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 3246931	NC_000003.11:g.(?_38913664)_(38913805_?)del	SCN11A	Deletion	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 3063586	NM_001349253.2(SCN11A):c.64G>T (p.Asp22Tyr)	SCN11A (D22Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7	GUncertain significance
Select item 2954470	NM_001349253.2(SCN11A):c.2505A>C (p.Ala835=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2954355	NM_001349253.2(SCN11A):c.2357T>C (p.Leu786Ser)	SCN11A (L786S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2954311	NM_001349253.2(SCN11A):c.3086G>A (p.Cys1029Tyr)	SCN11A (C1029Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2954204	NM_001349253.2(SCN11A):c.4658G>A (p.Trp1553Ter)	SCN11A (W1553*)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2954060	NM_001349253.2(SCN11A):c.3348del (p.Lys1116fs)	SCN11A (K1116fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2953502	NM_001349253.2(SCN11A):c.4060A>T (p.Lys1354Ter)	SCN11A (K1354*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2953021	NM_001349253.2(SCN11A):c.5341T>A (p.Phe1781Ile)	SCN11A (F1781I)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2952832	NM_001349253.2(SCN11A):c.629A>G (p.Tyr210Cys)	SCN11A (Y210C)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2952818	NM_001349253.2(SCN11A):c.1343T>G (p.Leu448Arg)	SCN11A (L448R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2951554	NM_001349253.2(SCN11A):c.5371G>C (p.Asp1791His)	SCN11A (D1791H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2951361	NM_001349253.2(SCN11A):c.55T>A (p.Phe19Ile)	SCN11A (F19I)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2950500	NM_001349253.2(SCN11A):c.2214G>A (p.Pro738=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2950415	NM_001349253.2(SCN11A):c.4909G>T (p.Ala1637Ser)	SCN11A (A1637S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2950401	NM_001349253.2(SCN11A):c.4789A>C (p.Asn1597His)	SCN11A (N1597H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2950316	NM_001349253.2(SCN11A):c.2840A>G (p.Tyr947Cys)	SCN11A (Y947C)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2950211	NM_001349253.2(SCN11A):c.4933G>C (p.Ala1645Pro)	SCN11A (A1645P)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2949839	NM_001349253.2(SCN11A):c.54C>T (p.Pro18=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2949801	NM_001349253.2(SCN11A):c.5326G>C (p.Gly1776Arg)	SCN11A (G1776R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2949788	NM_001349253.2(SCN11A):c.409G>A (p.Gly137Ser)	SCN11A (G137S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2949699	NM_001349253.2(SCN11A):c.268-18del	SCN11A	Deletion (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2948735	NM_001349253.2(SCN11A):c.1265A>G (p.Gln422Arg)	SCN11A (Q422R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2948496	NM_001349253.2(SCN11A):c.2977G>T (p.Glu993Ter)	SCN11A (E993*)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2948445	NM_001349253.2(SCN11A):c.4327+15C>G	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2948429	NM_001349253.2(SCN11A):c.2836-18C>T	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2948389	NM_001349253.2(SCN11A):c.827T>G (p.Met276Arg)	SCN11A (M276R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2948316	NM_001349253.2(SCN11A):c.893-18G>A	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2947843	NM_001349253.2(SCN11A):c.2164C>G (p.Leu722Val)	SCN11A (L722V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2947601	NM_001349253.2(SCN11A):c.893-13T>C	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2946984	NM_001349253.2(SCN11A):c.2434A>T (p.Asn812Tyr)	SCN11A (N812Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2946838	NM_001349253.2(SCN11A):c.859del (p.Asp287fs)	SCN11A (D287fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2946763	NM_001349253.2(SCN11A):c.192G>C (p.Lys64Asn)	SCN11A (K64N)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2946220	NM_001349253.2(SCN11A):c.5319_5320del (p.Cys1774fs)	SCN11A (C1774fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2945935	NM_001349253.2(SCN11A):c.3979_3980del (p.Glu1327fs)	SCN11A (E1327fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2945881	NM_001349253.2(SCN11A):c.3495+18A>G	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2945316	NM_001349253.2(SCN11A):c.3393+11C>T	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2945126	NM_001349253.2(SCN11A):c.2836-7G>A	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2945122	NM_001349253.2(SCN11A):c.4801G>C (p.Ala1601Pro)	SCN11A (A1601P)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2945023	NM_001349253.2(SCN11A):c.4528A>G (p.Ile1510Val)	SCN11A (I1510V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2944278	NM_001349253.2(SCN11A):c.2404-20G>T	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2944159	NM_001349253.2(SCN11A):c.3267A>C (p.Leu1089Phe)	SCN11A (L1089F)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2943890	NM_001349253.2(SCN11A):c.1536G>T (p.Glu512Asp)	SCN11A (E512D)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2943482	NM_001349253.2(SCN11A):c.3780G>A (p.Met1260Ile)	SCN11A (M1260I)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2943476	NM_001349253.2(SCN11A):c.843G>A (p.Leu281=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2943326	NM_001349253.2(SCN11A):c.4908A>G (p.Glu1636=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2942998	NM_001349253.2(SCN11A):c.617+8T>C	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2942969	NM_001349253.2(SCN11A):c.5366A>G (p.His1789Arg)	SCN11A (H1789R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2942570	NM_001349253.2(SCN11A):c.618-5_618-4insCCCTGTGCTTTGTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATGTCTTGCGCTCGTGATCCGCCCGCCTCGGCCTCTCTAGGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCC	SCN11A	Insertion (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2942549	NM_001349253.2(SCN11A):c.3594C>T (p.Tyr1198=)	LOC126806652, SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2942294	NM_001349253.2(SCN11A):c.3495+12A>G	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2942225	NM_001349253.2(SCN11A):c.2187C>G (p.Ser729=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2942082	NM_001349253.2(SCN11A):c.3496-3A>G	SCN11A, LOC126806652	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2942073	NM_001349253.2(SCN11A):c.1894G>T (p.Asp632Tyr)	SCN11A (D632Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941737	NM_001349253.2(SCN11A):c.2973A>C (p.Leu991=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2941732	NM_001349253.2(SCN11A):c.5309T>C (p.Leu1770Pro)	SCN11A (L1770P)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941672	NM_001349253.2(SCN11A):c.3748C>T (p.Leu1250=)	LOC126806652, SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2941534	NM_001349253.2(SCN11A):c.1195G>T (p.Val399Phe)	SCN11A (V399F)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941349	NM_001349253.2(SCN11A):c.2942C>T (p.Pro981Leu)	SCN11A (P981L)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941282	NM_001349253.2(SCN11A):c.3158T>G (p.Val1053Gly)	SCN11A (V1053G)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941264	NM_001349253.2(SCN11A):c.5282A>C (p.Asp1761Ala)	SCN11A (D1761A)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941093	NM_001349253.2(SCN11A):c.557A>G (p.Asp186Gly)	SCN11A (D186G)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941006	NM_001349253.2(SCN11A):c.4359G>A (p.Glu1453=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2940972	NM_001349253.2(SCN11A):c.1474-20C>T	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2940741	NM_001349253.2(SCN11A):c.3767T>G (p.Phe1256Cys)	SCN11A (F1256C)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2940705	NM_001349253.2(SCN11A):c.3849C>T (p.Leu1283=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2940538	NM_001349253.2(SCN11A):c.1299+9A>C	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2940270	NM_001349253.2(SCN11A):c.4764T>C (p.Ile1588=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2940158	NM_001349253.2(SCN11A):c.895C>A (p.His299Asn)	SCN11A (H299N)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2940157	NM_001349253.2(SCN11A):c.973C>A (p.Gln325Lys)	SCN11A (Q325K)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2940148	NM_001349253.2(SCN11A):c.602T>G (p.Ile201Ser)	SCN11A (I201S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2939878	NM_001349253.2(SCN11A):c.270A>G (p.Thr90=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2939710	NM_001349253.2(SCN11A):c.4280A>G (p.Asn1427Ser)	SCN11A (N1427S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2939638	NM_001349253.2(SCN11A):c.2835+3A>G	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2939275	NM_001349253.2(SCN11A):c.447G>A (p.Gly149=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2939004	NM_001349253.2(SCN11A):c.1273C>T (p.Gln425Ter)	SCN11A (Q425*)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938926	NM_001349253.2(SCN11A):c.810A>G (p.Val270=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938917	NM_001349253.2(SCN11A):c.4301G>C (p.Cys1434Ser)	SCN11A (C1434S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938813	NM_001349253.2(SCN11A):c.3781G>A (p.Asp1261Asn)	SCN11A (D1261N)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938777	NM_001349253.2(SCN11A):c.2312_2313insTGG (p.Glu771delinsAspGly)	SCN11A	Insertion (inframe_indel)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938776	NM_001349253.2(SCN11A):c.2314A>T (p.Asn772Tyr)	SCN11A (N772Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938775	NM_001349253.2(SCN11A):c.2316T>C (p.Asn772=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2938476	NM_001349253.2(SCN11A):c.3252del (p.Ile1086fs)	SCN11A (I1086fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938426	NM_001349253.2(SCN11A):c.4586A>G (p.Asp1529Gly)	SCN11A (D1529G)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938259	NM_001349253.2(SCN11A):c.4333A>G (p.Met1445Val)	SCN11A (M1445V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2938132	NM_001349253.2(SCN11A):c.1383T>C (p.Phe461=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2937894	NM_001349253.2(SCN11A):c.3394-16C>T	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2937766	NM_001349253.2(SCN11A):c.37G>A (p.Glu13Lys)	SCN11A (E13K)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2937590	NM_001349253.2(SCN11A):c.3759+12C>G	LOC126806652, SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2937359	NM_001349253.2(SCN11A):c.781T>C (p.Phe261Leu)	SCN11A (F261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2937154	NM_001349253.2(SCN11A):c.547T>G (p.Phe183Val)	SCN11A (F183V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2937153	NM_001349253.2(SCN11A):c.3219+19G>A	SCN11A	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2937126	NM_001349253.2(SCN11A):c.1260G>T (p.Met420Ile)	SCN11A (M420I)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2937052	NM_001349253.2(SCN11A):c.1686G>C (p.Gln562His)	SCN11A (Q562H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2936807	NM_001349253.2(SCN11A):c.4671C>T (p.Leu1557=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2936775	NM_001349253.2(SCN11A):c.4947T>C (p.Phe1649=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2936737	NM_001349253.2(SCN11A):c.1060C>T (p.Arg354Trp)	SCN11A (R354W)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2936649	NM_001349253.2(SCN11A):c.2062A>C (p.Asn688His)	SCN11A (N688H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance

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