"Ambry Genetics"[submitter] AND "SCN7A"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2380808	NM_002976.4(SCN7A):c.4856C>T (p.Thr1619Ile)	SCN7A (T1619I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350365	NM_002976.4(SCN7A):c.4752A>T (p.Arg1584Ser)	SCN7A (R1584S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528649	NM_002976.4(SCN7A):c.4736T>C (p.Leu1579Pro)	SCN7A (L1579P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224354	NM_002976.4(SCN7A):c.4393G>A (p.Asp1465Asn)	SCN7A (D1465N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536774	NM_002976.4(SCN7A):c.4122G>A (p.Met1374Ile)	SCN7A (M1374I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558785	NM_002976.4(SCN7A):c.4082A>G (p.Lys1361Arg)	SCN7A (K1361R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356232	NM_002976.4(SCN7A):c.4073G>A (p.Arg1358His)	SCN7A (R1358H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515492	NM_002976.4(SCN7A):c.3941G>C (p.Trp1314Ser)	SCN7A (W1314S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527698	NM_002976.4(SCN7A):c.3904C>G (p.Leu1302Val)	SCN7A (L1302V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286846	NM_002976.4(SCN7A):c.3841A>T (p.Ile1281Phe)	SCN7A (I1281F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395111	NM_002976.4(SCN7A):c.3630A>G (p.Ile1210Met)	SCN7A (I1210M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362135	NM_002976.4(SCN7A):c.3565A>G (p.Ile1189Val)	SCN7A (I1189V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293489	NM_002976.4(SCN7A):c.3501C>G (p.Ile1167Met)	SCN7A (I1167M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328970	NM_002976.4(SCN7A):c.3467C>T (p.Ala1156Val)	SCN7A (A1156V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466889	NM_002976.4(SCN7A):c.3439A>G (p.Ile1147Val)	SCN7A (I1147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242222	NM_002976.4(SCN7A):c.3419C>A (p.Thr1140Lys)	SCN7A (T1140K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727910	NM_002976.4(SCN7A):c.3317G>A (p.Arg1106Gln)	SCN7A (R1106Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2385365	NM_002976.4(SCN7A):c.3093C>G (p.Phe1031Leu)	SCN7A (F1031L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349042	NM_002976.4(SCN7A):c.3059G>A (p.Arg1020Gln)	SCN7A (R1020Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249467	NM_002976.4(SCN7A):c.3019G>A (p.Val1007Ile)	SCN7A (V1007I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559457	NM_002976.4(SCN7A):c.2938A>G (p.Ile980Val)	SCN7A (I980V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535587	NM_002976.4(SCN7A):c.2914G>C (p.Asp972His)	SCN7A (D972H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263338	NM_002976.4(SCN7A):c.2845G>A (p.Gly949Ser)	SCN7A (G949S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2247844	NM_002976.4(SCN7A):c.2766C>A (p.Asn922Lys)	SCN7A (N922K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410676	NM_002976.4(SCN7A):c.2708G>A (p.Arg903His)	SCN7A (R903H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2386546	NM_002976.4(SCN7A):c.2707C>T (p.Arg903Cys)	SCN7A (R903C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409377	NM_002976.4(SCN7A):c.2573G>A (p.Gly858Asp)	SCN7A (G858D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406094	NM_002976.4(SCN7A):c.2485A>G (p.Ser829Gly)	SCN7A (S829G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459832	NM_002976.4(SCN7A):c.2417A>T (p.Lys806Ile)	SCN7A (K806I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232009	NM_002976.4(SCN7A):c.2308A>G (p.Thr770Ala)	SCN7A (T770A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232469	NM_002976.4(SCN7A):c.2293A>G (p.Lys765Glu)	SCN7A (K765E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456717	NM_002976.4(SCN7A):c.2267A>G (p.Lys756Arg)	SCN7A (K756R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484269	NM_002976.4(SCN7A):c.2221G>A (p.Glu741Lys)	SCN7A (E741K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544937	NM_002976.4(SCN7A):c.2200T>C (p.Cys734Arg)	SCN7A (C734R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544229	NM_002976.4(SCN7A):c.2131A>G (p.Met711Val)	SCN7A (M711V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275933	NM_002976.4(SCN7A):c.1978A>G (p.Ile660Val)	SCN7A (I660V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496190	NM_002976.4(SCN7A):c.1783C>T (p.Leu595Phe)	SCN7A (L595F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2349262	NM_002976.4(SCN7A):c.1754G>A (p.Cys585Tyr)	SCN7A (C585Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2554451	NM_002976.4(SCN7A):c.1720A>G (p.Ser574Gly)	SCN7A (S574G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494172	NM_002976.4(SCN7A):c.1711A>G (p.Ile571Val)	SCN7A (I571V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244917	NM_002976.4(SCN7A):c.1654A>G (p.Met552Val)	SCN7A (M552V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356980	NM_002976.4(SCN7A):c.1633A>G (p.Ile545Val)	SCN7A (I545V)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2225029	NM_002976.4(SCN7A):c.1555G>T (p.Val519Leu)	SCN7A (V519L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351125	NM_002976.4(SCN7A):c.1543A>G (p.Ile515Val)	SCN7A (I515V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590792	NM_002976.4(SCN7A):c.1339G>A (p.Asp447Asn)	SCN7A (D447N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522896	NM_002976.4(SCN7A):c.1300A>G (p.Ile434Val)	SCN7A (I434V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339284	NM_002976.4(SCN7A):c.1211T>A (p.Val404Asp)	SCN7A (V404D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214514	NM_002976.4(SCN7A):c.1205A>G (p.Gln402Arg)	SCN7A (Q402R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363092	NM_002976.4(SCN7A):c.1075T>C (p.Tyr359His)	SCN7A (Y359H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616630	NM_002976.4(SCN7A):c.1043G>C (p.Arg348Pro)	SCN7A (R348P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464746	NM_002976.4(SCN7A):c.1043G>A (p.Arg348Gln)	SCN7A (R348Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477541	NM_002976.4(SCN7A):c.838C>A (p.His280Asn)	SCN7A (H280N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391397	NM_002976.4(SCN7A):c.828T>G (p.Asn276Lys)	SCN7A (N276K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621084	NM_002976.4(SCN7A):c.770G>A (p.Gly257Glu)	SCN7A (G257E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485877	NM_002976.4(SCN7A):c.494C>T (p.Ala165Val)	SCN7A (A165V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462387	NM_002976.4(SCN7A):c.314A>G (p.Asn105Ser)	SCN7A (N105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2271817	NM_002976.4(SCN7A):c.301T>A (p.Leu101Met)	SCN7A (L101M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470132	NM_002976.4(SCN7A):c.277A>G (p.Asn93Asp)	SCN7A (N93D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390103	NM_002976.4(SCN7A):c.236C>A (p.Thr79Asn)	SCN7A (T79N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303083	NM_002976.4(SCN7A):c.227A>G (p.Lys76Arg)	SCN7A (K76R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470366	NM_002976.4(SCN7A):c.168C>A (p.Asn56Lys)	SCN7A (N56K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412559	NM_002976.4(SCN7A):c.59T>C (p.Leu20Pro)	SCN7A (L20P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317224	NM_002976.4(SCN7A):c.11C>T (p.Ser4Leu)	SCN7A (S4L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 63