ClinVar for MedGen (Select 416630) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763751	NM_001365536.1(SCN9A):c.547T>C (p.Phe183Leu)	SCN9A (F183L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763707	NM_001365536.1(SCN9A):c.3824C>T (p.Ala1275Val)	SCN1A-AS1, SCN9A (A1264V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763537	NM_001365536.1(SCN9A):c.744C>A (p.Val248=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3763396	NM_001365536.1(SCN9A):c.5214C>G (p.Phe1738Leu)	SCN1A-AS1, SCN9A (F1727L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763374	NM_001365536.1(SCN9A):c.5314G>A (p.Glu1772Lys)	SCN1A-AS1, SCN9A (E1761K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763373	NM_001365536.1(SCN9A):c.5343G>A (p.Met1781Ile)	SCN9A, SCN1A-AS1 (M1770I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763305	NM_001365536.1(SCN9A):c.5019T>G (p.Asp1673Glu)	SCN1A-AS1, SCN9A (D1662E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3763224	NM_001365536.1(SCN9A):c.377+17G>T	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3763216	NM_001365536.1(SCN9A):c.894C>T (p.Asp298=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3763186	NM_001365536.1(SCN9A):c.1602+18A>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3763136	NM_001365536.1(SCN9A):c.1278G>A (p.Met426Ile)	SCN1A-AS1, SCN9A (M426I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762827	NM_001365536.1(SCN9A):c.4632T>A (p.Thr1544=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762826	NM_001365536.1(SCN9A):c.5880T>G (p.Ser1960Arg)	SCN1A-AS1, SCN9A (S1949R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762792	NM_001365536.1(SCN9A):c.1107+20T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762758	NM_001365536.1(SCN9A):c.2491T>C (p.Leu831=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762640	NM_001365536.1(SCN9A):c.79A>G (p.Ile27Val)	SCN9A (I27V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762569	NM_001365536.1(SCN9A):c.1442A>G (p.Lys481Arg)	SCN1A-AS1, SCN9A (K481R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762545	NM_001365536.1(SCN9A):c.2416G>A (p.Val806Ile)	SCN1A-AS1, SCN9A (V795I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762535	NM_001365536.1(SCN9A):c.5877T>C (p.Asp1959=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762507	NM_001365536.1(SCN9A):c.1169C>T (p.Ser390Phe)	SCN1A-AS1, SCN9A (S390F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762495	NM_001365536.1(SCN9A):c.4298T>C (p.Met1433Thr)	SCN1A-AS1, SCN9A (M1422T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762461	NM_001365536.1(SCN9A):c.3689A>G (p.Asp1230Gly)	SCN1A-AS1, SCN9A (D1219G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762422	NM_001365536.1(SCN9A):c.4503+11A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762409	NM_001365536.1(SCN9A):c.5310T>C (p.Ser1770=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3762401	NM_001365536.1(SCN9A):c.965+4T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762387	NM_001365536.1(SCN9A):c.4999G>C (p.Ala1667Pro)	SCN1A-AS1, SCN9A (A1656P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762347	NM_001365536.1(SCN9A):c.5458A>G (p.Lys1820Glu)	SCN1A-AS1, SCN9A (K1809E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762278	NM_001365536.1(SCN9A):c.3382A>G (p.Ser1128Gly)	SCN1A-AS1, SCN9A (S1117G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762202	NM_001365536.1(SCN9A):c.5460A>C (p.Lys1820Asn)	SCN1A-AS1, SCN9A (K1809N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3762183	NM_001365536.1(SCN9A):c.465C>T (p.Val155=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761883	NM_001365536.1(SCN9A):c.3905C>T (p.Ser1302Phe)	SCN1A-AS1, SCN9A (S1291F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761789	NM_001365536.1(SCN9A):c.1191C>T (p.Ile397=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3761757	NM_001365536.1(SCN9A):c.4239T>C (p.Tyr1413=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3761744	NM_001365536.1(SCN9A):c.4321A>G (p.Ile1441Val)	SCN1A-AS1, SCN9A (I1430V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761729	NM_001365536.1(SCN9A):c.2268A>G (p.Leu756=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3761693	NM_001365536.1(SCN9A):c.1448A>C (p.Lys483Thr)	SCN9A, SCN1A-AS1 (K483T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761629	NM_001365536.1(SCN9A):c.468-17T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761532	NM_001365536.1(SCN9A):c.4504-15_4504-13del	SCN1A-AS1, SCN9A	Deletion (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761522	NM_001365536.1(SCN9A):c.673A>C (p.Ile225Leu)	SCN9A (I225L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761357	NM_001365536.1(SCN9A):c.2579del (p.Gly860fs)	SCN1A-AS1, SCN9A (G849fs +1 more)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3761316	NM_001365536.1(SCN9A):c.966-12T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761181	NM_001365536.1(SCN9A):c.170A>G (p.Lys57Arg)	SCN9A (K57R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3761121	NM_001365536.1(SCN9A):c.1108-13C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760921	NM_001365536.1(SCN9A):c.1140C>A (p.Ile380=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760883	NM_001365536.1(SCN9A):c.3801+12T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760842	NM_001365536.1(SCN9A):c.3396C>G (p.Asn1132Lys)	SCN1A-AS1, SCN9A (N1121K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3760814	NM_001365536.1(SCN9A):c.196A>G (p.Ile66Val)	SCN9A (I66V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3760598	NM_001365536.1(SCN9A):c.5283G>T (p.Glu1761Asp)	SCN1A-AS1, SCN9A (E1750D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3760589	NM_001365536.1(SCN9A):c.3291T>C (p.Asp1097=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760424	NM_001365536.1(SCN9A):c.1674A>G (p.Lys558=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760328	NM_001365536.1(SCN9A):c.3548A>C (p.Lys1183Thr)	SCN1A-AS1, SCN9A (K1172T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3760241	NM_001365536.1(SCN9A):c.4775-16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3760054	NM_001365536.1(SCN9A):c.2436_2437inv (p.Ser813Gly)	SCN1A-AS1, SCN9A (S802G +1 more)	Inversion (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3759729	NM_001365536.1(SCN9A):c.492T>A (p.Thr164=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3759534	NM_001365536.1(SCN9A):c.2832C>A (p.Cys944Ter)	SCN1A-AS1, SCN9A (C933* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3759358	NM_001365536.1(SCN9A):c.596+8C>A	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3759064	NM_001365536.1(SCN9A):c.2788G>T (p.Glu930Ter)	SCN1A-AS1, SCN9A (E919* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3759063	NM_001365536.1(SCN9A):c.3740C>A (p.Ala1247Glu)	SCN1A-AS1, SCN9A (A1236E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3759062	NM_001365536.1(SCN9A):c.3956C>T (p.Pro1319Leu)	SCN1A-AS1, SCN9A (P1308L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3758942	NM_001365536.1(SCN9A):c.488A>T (p.Tyr163Phe)	SCN9A (Y163F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758941	NM_001365536.1(SCN9A):c.626A>T (p.Asn209Ile)	SCN9A (N209I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758940	NM_001365536.1(SCN9A):c.937C>T (p.Leu313Phe)	SCN1A-AS1, SCN9A (L313F)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758939	NM_001365536.1(SCN9A):c.958G>T (p.Asp320Tyr)	SCN1A-AS1, SCN9A (D320Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758938	NM_001365536.1(SCN9A):c.1040T>A (p.Phe347Tyr)	SCN1A-AS1, SCN9A (F347Y)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758913	NM_001365536.1(SCN9A):c.3875T>A (p.Leu1292Gln)	SCN1A-AS1, SCN9A (L1281Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758912	NM_001365536.1(SCN9A):c.3890C>T (p.Pro1297Leu)	SCN1A-AS1, SCN9A (P1286L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758911	NM_001365536.1(SCN9A):c.3892C>A (p.Leu1298Ile)	SCN1A-AS1, SCN9A (L1287I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758910	NM_001365536.1(SCN9A):c.4077T>G (p.Phe1359Leu)	SCN1A-AS1, SCN9A (F1348L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758909	NM_001365536.1(SCN9A):c.4520G>A (p.Cys1507Tyr)	SCN9A, SCN1A-AS1 (C1496Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758908	NM_001365536.1(SCN9A):c.4594A>C (p.Met1532Leu)	SCN9A, SCN1A-AS1 (M1521L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758907	NM_001365536.1(SCN9A):c.5617T>C (p.Ser1873Pro)	SCN1A-AS1, SCN9A (S1862P +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758906	NM_001365536.1(SCN9A):c.5720A>G (p.Gln1907Arg)	SCN1A-AS1, SCN9A (Q1896R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758862	NM_001365536.1(SCN9A):c.1858A>G (p.Ser620Gly)	SCN1A-AS1, SCN9A (S620G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758690	NM_001365536.1(SCN9A):c.367T>G (p.Leu123Val)	SCN9A (L123V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758644	NM_001365536.1(SCN9A):c.796C>T (p.Leu266=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3758624	NM_001365536.1(SCN9A):c.4498C>T (p.Pro1500Ser)	SCN9A, SCN1A-AS1 (P1489S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758532	NM_001365536.1(SCN9A):c.3351+10C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3758506	NM_001365536.1(SCN9A):c.5142del (p.Cys1715fs)	SCN1A-AS1, SCN9A (C1704fs +1 more)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3758345	NM_001365536.1(SCN9A):c.539A>C (p.Glu180Ala)	SCN9A (E180A)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 3758304	NM_001365536.1(SCN9A):c.689-10C>T	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3758255	NM_001365536.1(SCN9A):c.1315-17C>T	SCN9A, SCN1A-AS1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3758184	NM_001365536.1(SCN9A):c.2653A>C (p.Met885Leu)	SCN1A-AS1, SCN9A (M874L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3758099	NM_001365536.1(SCN9A):c.596+17T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3758010	NM_001365536.1(SCN9A):c.3333T>C (p.Asp1111=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3757963	NM_001365536.1(SCN9A):c.2769G>C (p.Val923=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3757912	NM_001365536.1(SCN9A):c.4749T>C (p.Phe1583=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3757812	NM_001365536.1(SCN9A):c.3924+9A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3757691	NM_001365536.1(SCN9A):c.2362G>A (p.Ala788Thr)	SCN1A-AS1, SCN9A (A777T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757670	NM_001365536.1(SCN9A):c.3064A>G (p.Arg1022Gly)	SCN1A-AS1, SCN9A (R1011G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757595	NM_001365536.1(SCN9A):c.2465A>G (p.Glu822Gly)	SCN1A-AS1, SCN9A (E811G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757403	NM_001365536.1(SCN9A):c.5856C>G (p.Thr1952=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3757283	NM_001365536.1(SCN9A):c.5531C>T (p.Ala1844Val)	SCN1A-AS1, SCN9A (A1833V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757197	NM_001365536.1(SCN9A):c.1901G>C (p.Arg634Pro)	SCN1A-AS1, SCN9A (R634P)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757127	NM_001365536.1(SCN9A):c.4381A>G (p.Asn1461Asp)	SCN1A-AS1, SCN9A (N1450D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3757058	NM_001365536.1(SCN9A):c.760T>C (p.Phe254Leu)	SCN9A (F254L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3756876	NM_001365536.1(SCN9A):c.420C>A (p.Cys140Ter)	SCN9A (C140*)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3756866	NM_001365536.1(SCN9A):c.689-14del	SCN9A	Deletion (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GBenign
Select item 3756801	NM_001365536.1(SCN9A):c.3152A>G (p.Asn1051Ser)	SCN1A-AS1, SCN9A (N1040S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3756683	NM_001365536.1(SCN9A):c.1448A>G (p.Lys483Arg)	SCN1A-AS1, SCN9A (K483R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3756662	NM_001365536.1(SCN9A):c.2152G>C (p.Ala718Pro)	SCN1A-AS1, SCN9A (A707P +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance

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