ClinVar for MedGen (Select 416701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362632	NM_018979.4(WNK1):c.5422A>G (p.Met1808Val)	WNK1 (M1561V +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 3247364	NC_000002.11:g.(?_167136847)_(167168266_?)dup	SCN9A	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 3247363	NC_000002.11:g.(?_166847755)_(167168266_?)dup	SCN9A, SCN1A	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 3244329	NC_000012.11:g.(?_993267)_(1017958_?)dup	WNK1	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3244328	NC_000012.11:g.(?_862732)_(863510_?)dup	WNK1	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 3244327	NC_000012.11:g.(?_862732)_(1017958_?)del	WNK1	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 3024339	NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)	KIF1A (N211D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GPathogenic
Select item 2954532	NM_001365536.1(SCN9A):c.5401A>G (p.Lys1801Glu)	SCN1A-AS1, SCN9A (K1790E +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954519	NM_001365536.1(SCN9A):c.3979G>T (p.Val1327Leu)	SCN1A-AS1, SCN9A (V1327L +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954386	NM_001365536.1(SCN9A):c.993G>T (p.Val331=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954382	NM_001365536.1(SCN9A):c.5185G>A (p.Asp1729Asn)	SCN1A-AS1, SCN9A (D1729N +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954377	NM_018979.4(WNK1):c.933-18A>T	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 2954372	NM_001365536.1(SCN9A):c.3430G>A (p.Glu1144Lys)	SCN1A-AS1, SCN9A (E1144K +1 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954221	NM_018979.4(WNK1):c.6505C>G (p.Pro2169Ala)	WNK1 (P2429A +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2954209	NM_001365536.1(SCN9A):c.3724C>G (p.Leu1242Val)	SCN1A-AS1, SCN9A (L1231V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954118	NM_001365536.1(SCN9A):c.2343+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2954115	NM_001365536.1(SCN9A):c.1047G>C (p.Trp349Cys)	SCN1A-AS1, SCN9A (W349C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2954073	NM_001365536.1(SCN9A):c.4911G>A (p.Leu1637=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2954032	NM_001365536.1(SCN9A):c.3129T>G (p.Leu1043=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953978	NM_001365536.1(SCN9A):c.5196C>G (p.Asn1732Lys)	SCN1A-AS1, SCN9A (N1721K +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2953900	NM_018979.4(WNK1):c.2222A>C (p.Gln741Pro)	WNK1 (Q1154P +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2953870	NM_001365536.1(SCN9A):c.1635T>C (p.Ser545=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953710	NM_001365536.1(SCN9A):c.2517+12C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2953561	NM_018979.4(WNK1):c.2188G>C (p.Val730Leu)	WNK1 (V1143L +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2953346	NM_001365536.1(SCN9A):c.5616T>C (p.Pro1872=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2953262	NM_018979.4(WNK1):c.3373-8C>A	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2953261	NM_001365536.1(SCN9A):c.828T>C (p.Phe276=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2953189	NM_001365536.1(SCN9A):c.2069T>C (p.Met690Thr)	SCN1A-AS1, SCN9A (M679T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2953154	NM_213655.5(WNK1):c.2208_2225dup (p.His742_Pro743insLeuProValLeuPheHis)	WNK1	Duplication (inframe_insertion +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2953069	NM_018979.4(WNK1):c.4864C>A (p.Pro1622Thr)	WNK1 (P1375T +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2953061	NM_001365536.1(SCN9A):c.5408C>T (p.Ser1803Phe)	SCN1A-AS1, SCN9A (S1792F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952989	NM_001365536.1(SCN9A):c.4493C>T (p.Pro1498Leu)	SCN1A-AS1, SCN9A (P1487L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952949	NM_001365536.1(SCN9A):c.1344_1345dup (p.Ser449fs)	SCN9A, SCN1A-AS1 (S449fs)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 2952947	NM_001365536.1(SCN9A):c.720G>T (p.Gln240His)	SCN9A (Q240H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952931	NM_001365536.1(SCN9A):c.4261-17T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952927	NM_001365536.1(SCN9A):c.5309G>C (p.Ser1770Thr)	SCN1A-AS1, SCN9A (S1759T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952840	NM_018979.4(WNK1):c.7031C>T (p.Ala2344Val)	WNK1 (A2596V +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952669	NM_001365536.1(SCN9A):c.4788T>A (p.Ala1596=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952635	NM_001365536.1(SCN9A):c.1797C>A (p.Ser599Arg)	SCN1A-AS1, SCN9A (S599R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952620	NM_213655.5(WNK1):c.3259GAA[3] (p.Glu1088_Leu1089insGlu)	WNK1	Microsatellite (inframe_insertion +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952603	NM_018979.4(WNK1):c.1632G>C (p.Gly544=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952553	NM_001365536.1(SCN9A):c.4887G>T (p.Gly1629=)	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 2952498	NM_001365536.1(SCN9A):c.5232CAT[1] (p.Ile1746del)	SCN1A-AS1, SCN9A (I1746del +1 more)	Microsatellite (inframe_deletion +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952429	NM_001365536.1(SCN9A):c.2247A>C (p.Ala749=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952426	NM_001365536.1(SCN9A):c.4503+14T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952407	NM_018979.4(WNK1):c.4237G>C (p.Val1413Leu)	WNK1 (V1673L +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952366	NM_018979.4(WNK1):c.5354C>T (p.Ser1785Phe)	WNK1 (S1785F +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952363	NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer)	SCN1A-AS1, SCN9A	Deletion (nonsense +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 2952247	NM_001365536.1(SCN9A):c.4877G>A (p.Gly1626Glu)	SCN1A-AS1, SCN9A (G1626E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2952224	NM_018979.4(WNK1):c.1683A>G (p.Arg561=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2952015	NM_001365536.1(SCN9A):c.641G>T (p.Arg214Leu)	SCN9A (R214L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951951	NM_001365536.1(SCN9A):c.320A>G (p.Tyr107Cys)	SCN9A (Y107C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951870	NM_001365536.1(SCN9A):c.4270C>A (p.Gln1424Lys)	SCN1A-AS1, SCN9A (Q1413K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951793	NM_001365536.1(SCN9A):c.5687T>C (p.Ile1896Thr)	SCN1A-AS1, SCN9A (I1885T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951779	NM_001365536.1(SCN9A):c.3386C>G (p.Thr1129Arg)	SCN1A-AS1, SCN9A (T1118R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951773	NM_001365536.1(SCN9A):c.1076C>G (p.Thr359Ser)	SCN1A-AS1, SCN9A (T359S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951716	NM_018979.4(WNK1):c.6270G>A (p.Leu2090=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951681	NM_001365536.1(SCN9A):c.5566A>G (p.Met1856Val)	SCN1A-AS1, SCN9A (M1856V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951673	NM_001365536.1(SCN9A):c.5763C>T (p.Asp1921=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951630	NM_001365536.1(SCN9A):c.3131C>A (p.Ala1044Asp)	SCN1A-AS1, SCN9A (A1033D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951547	NM_018979.4(WNK1):c.1400+5G>T	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951201	NM_001365536.1(SCN9A):c.2875-12A>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951128	NM_018979.4(WNK1):c.6103C>A (p.Gln2035Lys)	WNK1 (Q1787K +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951127	NM_018979.4(WNK1):c.3156A>T (p.Ala1052=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951123	NM_001365536.1(SCN9A):c.689-17T>C	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951110	NM_001365536.1(SCN9A):c.5440C>T (p.Leu1814Phe)	SCN1A-AS1, SCN9A (L1814F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2951044	NM_001365536.1(SCN9A):c.667A>G (p.Lys223Glu)	SCN9A (K223E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950920	NM_213655.5(WNK1):c.3328T>A (p.Tyr1110Asn)	WNK1 (Y1110N +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950917	NM_213655.5(WNK1):c.3326A>T (p.Asn1109Ile)	WNK1 (N1109I +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950662	NM_018979.4(WNK1):c.1951+4C>T	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950637	NM_001365536.1(SCN9A):c.197T>C (p.Ile66Thr)	SCN9A (I66T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950635	NM_001365536.1(SCN9A):c.4774+12T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950634	NM_001365536.1(SCN9A):c.4774+13_4774+16del	SCN1A-AS1, SCN9A	Microsatellite (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950616	NM_001365536.1(SCN9A):c.2343+13T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950481	NM_001365536.1(SCN9A):c.1712C>T (p.Ala571Val)	SCN1A-AS1, SCN9A (A571V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950417	NM_001365536.1(SCN9A):c.3581T>C (p.Phe1194Ser)	SCN1A-AS1, SCN9A (F1194S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950394	NM_213655.5(WNK1):c.2140-1G>A	WNK1	Single nucleotide variant (splice acceptor variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely pathogenic
Select item 2950314	NM_001365536.1(SCN9A):c.1330G>A (p.Ala444Thr)	SCN1A-AS1, SCN9A (A444T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950249	NM_001365536.1(SCN9A):c.4155G>A (p.Leu1385=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950220	NM_213655.5(WNK1):c.3467G>A (p.Gly1156Glu)	WNK1 (G1156E +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950214	NM_001365536.1(SCN9A):c.540A>C (p.Glu180Asp)	SCN9A (E180D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950147	NM_001365536.1(SCN9A):c.757G>A (p.Val253Met)	SCN9A (V253M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950135	NM_001365536.1(SCN9A):c.2684G>A (p.Cys895Tyr)	SCN1A-AS1, SCN9A (C884Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950133	NM_001365536.1(SCN9A):c.3336T>A (p.Ser1112Arg)	SCN1A-AS1, SCN9A (S1112R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2950123	NM_001365536.1(SCN9A):c.2532G>A (p.Lys844=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2950033	NM_001365536.1(SCN9A):c.3013A>G (p.Thr1005Ala)	SCN1A-AS1, SCN9A (T994A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949956	NM_001365536.1(SCN9A):c.3924+12C>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2949927	NM_001365536.1(SCN9A):c.919G>A (p.Glu307Lys)	SCN1A-AS1, SCN9A (E307K)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949909	NM_001365536.1(SCN9A):c.1018G>T (p.Gly340Cys)	SCN1A-AS1, SCN9A (G340C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949826	NM_001365536.1(SCN9A):c.5964dup (p.Ter1989IleextTer?)	SCN1A-AS1, SCN9A	Duplication (frameshift variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949819	NM_001365536.1(SCN9A):c.127G>A (p.Asp43Asn)	SCN9A (D43N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949616	NM_001365536.1(SCN9A):c.1602+17T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2949605	NM_001365536.1(SCN9A):c.3215A>G (p.Glu1072Gly)	SCN1A-AS1, SCN9A (E1061G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949533	NM_018979.4(WNK1):c.5860A>G (p.Lys1954Glu)	WNK1 (K1706E +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949520	NM_001365536.1(SCN9A):c.2154A>G (p.Ala718=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2949445	NM_001365536.1(SCN9A):c.1831A>G (p.Met611Val)	SCN1A-AS1, SCN9A (M611V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949422	NM_001365536.1(SCN9A):c.4279T>G (p.Tyr1427Asp)	SCN1A-AS1, SCN9A (Y1416D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949362	NM_001365536.1(SCN9A):c.3461G>T (p.Cys1154Phe)	SCN1A-AS1, SCN9A (C1154F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949343	NM_001365536.1(SCN9A):c.596+10T>G	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2949338	NM_001365536.1(SCN9A):c.902-6C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign

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