SCN7A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 154605	GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1	LOC102724058, SCN1A +3 more	Copy number loss	See cases	GPathogenic
Select item 57142	GRCh38/hg38 2q24.3(chr2:166286955-167102242)x1	SCN1A-AS1, SCN7A +2 more	Copy number loss	See cases	GUncertain significance
Select item 148467	GRCh38/hg38 2q24.3(chr2:166319464-166427533)x1	SCN7A, SCN9A	Copy number loss	See cases	GLikely benign
Select item 3056929	NM_002976.4(SCN7A):c.*2A>C	SCN7A	Single nucleotide variant (3 prime UTR variant +1 more)	SCN7A-related condition	GBenign
Select item 3055990	NM_002976.4(SCN7A):c.4970A>G (p.Asp1657Gly)	SCN7A (D1657G)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition	GBenign
Select item 1148518	NM_002976.4(SCN7A):c.4933G>T (p.Asp1645Tyr)	SCN7A (D1645Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 713051	NM_002976.4(SCN7A):c.4928G>A (p.Arg1643Gln)	SCN7A (R1643Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 731320	NM_002976.4(SCN7A):c.4890C>T (p.Thr1630=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1136974	NM_002976.4(SCN7A):c.4865G>A (p.Arg1622Gln)	SCN7A (R1622Q)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GLikely benign
Select item 747563	NM_002976.4(SCN7A):c.4864C>T (p.Arg1622Ter)	SCN7A (R1622*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
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 3057148	NM_002976.4(SCN7A):c.4786G>C (p.Val1596Leu)	SCN7A (V1596L)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition	GBenign
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 709139	NM_002976.4(SCN7A):c.4547G>A (p.Arg1516Lys)	SCN7A (R1516K)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GLikely benign
Select item 750467	NM_002976.4(SCN7A):c.4524G>A (p.Lys1508=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055155	NM_002976.4(SCN7A):c.4508C>T (p.Ser1503Phe)	SCN7A (S1503F)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition	GLikely benign
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 2651508	NM_002976.4(SCN7A):c.4262G>A (p.Gly1421Asp)	SCN7A (G1421D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737372	NM_002976.4(SCN7A):c.4242G>A (p.Val1414=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition +1 more	GBenign
Select item 732457	NM_002976.4(SCN7A):c.4209C>T (p.Ala1403=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055922	NM_002976.4(SCN7A):c.4200T>C (p.Tyr1400=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition	GBenign
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 749292	NM_002976.4(SCN7A):c.4092G>A (p.Lys1364=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3057552	NM_002976.4(SCN7A):c.4072C>T (p.Arg1358Cys)	SCN7A (R1358C)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition	GLikely benign
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 715627	NM_002976.4(SCN7A):c.3939G>A (p.Ala1313=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 736706	NM_002976.4(SCN7A):c.3855G>T (p.Trp1285Cys)	SCN7A (W1285C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 788640	NM_002976.4(SCN7A):c.3845C>T (p.Ala1282Val)	SCN7A (A1282V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 3041331	NM_002976.4(SCN7A):c.3813C>T (p.Asp1271=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition	GBenign
Select item 718809	NM_002976.4(SCN7A):c.3735T>C (p.Phe1245=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2651509	NM_002976.4(SCN7A):c.3712-2A>G	SCN7A	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
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 3056936	NM_002976.4(SCN7A):c.3417A>C (p.Ala1139=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition	GBenign
Select item 734985	NM_002976.4(SCN7A):c.3339C>T (p.Asn1113=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 721971	NM_002976.4(SCN7A):c.3228A>G (p.Gly1076=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1678246	NM_002976.4(SCN7A):c.3227G>T (p.Gly1076Val)	SCN7A (G1076V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 727516	NM_002976.4(SCN7A):c.3028-9A>T	SCN7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720764	NM_002976.4(SCN7A):c.3027+7A>G	SCN7A	Single nucleotide variant (intron variant)	not provided	GBenign
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 750307	NM_002976.4(SCN7A):c.2937C>T (p.Phe979=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3059687	NM_002976.4(SCN7A):c.2874G>T (p.Met958Ile)	SCN7A (M958I)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition	GBenign
Select item 734296	NM_002976.4(SCN7A):c.2867T>C (p.Ile956Thr)	SCN7A (I956T)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GLikely benign
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 764181	NM_002976.4(SCN7A):c.2802T>C (p.Asn934=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	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 734113	NM_002976.4(SCN7A):c.2710G>A (p.Gly904Arg)	SCN7A (G904R)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GBenign
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 716525	NM_002976.4(SCN7A):c.2696del (p.Asn899fs)	SCN7A (N899fs)	Deletion (frameshift variant +1 more)	SCN7A-related condition +1 more	GBenign
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 748816	NM_002976.4(SCN7A):c.2562G>A (p.Gln854=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition +1 more	GLikely benign
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 1144743	NM_002976.4(SCN7A):c.2452G>T (p.Ala818Ser)	SCN7A (A818S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 727246	NM_002976.4(SCN7A):c.2431A>G (p.Ser811Gly)	SCN7A (S811G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 773488	NM_002976.4(SCN7A):c.2408A>T (p.Asp803Val)	SCN7A (D803V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2689925	NM_002976.4(SCN7A):c.2404C>T (p.Gln802Ter)	SCN7A (Q802*)	Single nucleotide variant (nonsense +1 more)	not provided	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 781949	NM_002976.4(SCN7A):c.2204A>G (p.Lys735Arg)	SCN7A (K735R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 94088	NM_002976.4(SCN7A):c.2048G>A (p.Arg683Gln)	SCN7A (R683Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 728530	NM_002976.4(SCN7A):c.1995A>G (p.Gln665=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	SCN7A-related condition +1 more	GLikely benign
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 781822	NM_002976.4(SCN7A):c.1970T>C (p.Val657Ala)	SCN7A (V657A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711854	NM_002976.4(SCN7A):c.1942C>T (p.Leu648=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731513	NM_002976.4(SCN7A):c.1932C>T (p.Phe644=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727985	NM_002976.4(SCN7A):c.1879C>T (p.Leu627=)	SCN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 777566	NM_002976.4(SCN7A):c.1798A>T (p.Met600Leu)	SCN7A (M600L)	Single nucleotide variant (missense variant +1 more)	SCN7A-related condition +1 more	GBenign
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

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