C2931826[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 999587	NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile)	GH-LCR, SCN4A (V1836I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1518513	NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg)	GH-LCR, SCN4A (K1832R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 805398	NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp)	GH-LCR, SCN4A (V1831D)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 577832	NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)	GH-LCR, SCN4A (R1828C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 567394	NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met)	GH-LCR, SCN4A (T1826M)	Indel (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 1368549	NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His)	GH-LCR, SCN4A (P1822H)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 1154116	NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 212133	NM_000334.4(SCN4A):c.5420_5425del6	GH-LCR, SCN4A	Deletion	not provided +8 more	GUncertain significance
Select item 1400037	NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile)	GH-LCR, SCN4A (M1805I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1484775	NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala)	GH-LCR, SCN4A (T1804A)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 569570	NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)	GH-LCR, SCN4A (G1802E)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 569390	NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)	GH-LCR, SCN4A (S1789L)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 477428	NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys)	GH-LCR, SCN4A (E1783K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1632771	NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 864371	NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser)	GH-LCR, SCN4A (G1760S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1421497	NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn)	GH-LCR, SCN4A (D1759N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 582323	NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)	GH-LCR, SCN4A (R1755C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1043677	NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val)	GH-LCR, SCN4A (M1747V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1373900	NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe)	GH-LCR, SCN4A (S1746F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1007765	NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)	GH-LCR, SCN4A (R1740W)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 543831	NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Potassium-aggravated myotonia +5 more	GLikely benign
Select item 705678	NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)	GH-LCR, SCN4A (A1731T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GBenign/Likely benign
Select item 385479	NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +7 more	GBenign/Likely benign
Select item 645260	NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)	GH-LCR, SCN4A (N1709K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 448286	NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser)	GH-LCR, SCN4A (N1709S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 436663	NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not specified +7 more	GLikely benign
Select item 706686	NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)	SCN4A, GH-LCR	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +6 more	GBenign/Likely benign
Select item 586523	NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)	SCN4A, GH-LCR (P1650L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 660181	NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)	GH-LCR, SCN4A (R1639H)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 644159	NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)	GH-LCR, SCN4A (A1636V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 839033	NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn)	GH-LCR, SCN4A (D1630N)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 1112142	NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GLikely benign
Select item 854406	NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile)	GH-LCR, SCN4A (T1605I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 427072	NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	GH-LCR, SCN4A (M1592I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GPathogenic/Likely pathogenic
Select item 5897	NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	GH-LCR, SCN4A (M1592V)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 651154	NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser)	SCN4A, GH-LCR (G1569S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1346336	NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser)	GH-LCR, SCN4A (P1550S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 850705	NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val)	GH-LCR, SCN4A (I1545V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +5 more	GUncertain significance
Select item 1623186	NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GLikely benign
Select item 222028	NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser)	SCN4A, GH-LCR (G1537S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 976513	NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GLikely benign
Select item 788227	NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 860661	NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr)	GH-LCR, SCN4A (M1516T)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 954431	NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)	SCN4A, GH-LCR (V1507I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +6 more	GUncertain significance
Select item 426715	NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe)	GH-LCR, SCN4A (Y1506F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 967828	NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)	GH-LCR, SCN4A (N1503S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +7 more	GUncertain significance
Select item 543806	NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val)	GH-LCR, SCN4A (M1477V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 543817	NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 949090	NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln)	GH-LCR, SCN4A (R1469Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 961699	NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)	GH-LCR, SCN4A (I1468V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GUncertain significance
Select item 1485399	NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser)	GH-LCR, SCN4A (A1465S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 577938	NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)	GH-LCR, SCN4A (I1462M)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 932430	NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	GH-LCR, SCN4A (I1455T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 580039	NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met)	GH-LCR, SCN4A (T1445M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 324517	NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met)	GH-LCR, SCN4A (V1442M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 1103732	NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Potassium-aggravated myotonia +5 more	GLikely benign
Select item 805393	NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His)	GH-LCR, SCN4A (D1435H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1355806	NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile)	GH-LCR, SCN4A (V1423I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 80616	NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 568015	NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)	GH-LCR, SCN4A (R1408C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 954775	NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile)	GH-LCR, SCN4A (M1360I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +6 more	GUncertain significance
Select item 586516	NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)	GH-LCR, SCN4A (M1360I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 432792	NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu)	GH-LCR, SCN4A (F1355L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 5904	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	GH-LCR, SCN4A (T1313M)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 5920	NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	GH-LCR, SCN4A (G1306E)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GPathogenic
Select item 423775	NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val)	GH-LCR, SCN4A (I1279V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 477419	NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys)	GH-LCR, SCN4A (E1266K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1580548	NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 385478	NM_000334.4(SCN4A):c.3774+7C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +7 more	GBenign/Likely benign
Select item 255850	NM_000334.4(SCN4A):c.3720+9G>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 2 +7 more	GBenign/Likely benign
Select item 805391	NM_000334.4(SCN4A):c.3720+7G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 889839	NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn)	GH-LCR, SCN4A (D1199N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +5 more	GUncertain significance
Select item 705566	NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 805390	NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu)	SCN4A, GH-LCR (F1186L)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 5900	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	GH-LCR, SCN4A (A1156T)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 130232	NM_000334.4(SCN4A):c.3441+7G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 1223185	NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp)	GH-LCR, SCN4A (R1129W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1509093	NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His)	GH-LCR, SCN4A (P1124H)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1629517	NM_000334.4(SCN4A):c.3318+20C>G	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1625399	NM_000334.4(SCN4A):c.3318+15G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 448272	NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val)	GH-LCR, SCN4A (I1061V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 852147	NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln)	GH-LCR, SCN4A (R1058Q)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 936441	NM_000334.4(SCN4A):c.3145-5C>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GConflicting classifications of pathogenicity
Select item 1017972	NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr)	GH-LCR, SCN4A (I1027T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 477412	NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)	GH-LCR, SCN4A (L1020V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +7 more	GConflicting classifications of pathogenicity
Select item 1400824	NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys)	GH-LCR, SCN4A (R1013C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 579545	NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)	GH-LCR, SCN4A (W1002R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 566236	NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)	GH-LCR, SCN4A (R1001H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 1347972	NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val)	GH-LCR, SCN4A (A997V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1561270	NM_000334.4(SCN4A):c.2990-4T>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1149702	NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 543820	NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GBenign/Likely benign
Select item 1394567	NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys)	GH-LCR, SCN4A (Q955K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1530540	NM_000334.4(SCN4A):c.2854-19G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Potassium-aggravated myotonia +5 more	GLikely benign
Select item 1109951	NM_000334.4(SCN4A):c.2853+7C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GLikely benign
Select item 477409	NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn)	GH-LCR, SCN4A (D942N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 837548	NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr)	GH-LCR, SCN4A (H911Y)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 21154	NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)	GH-LCR, SCN4A (S906T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +7 more	GBenign/Likely benign
Select item 1369632	NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln)	GH-LCR, SCN4A (P904Q)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 543804	NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)	GH-LCR, SCN4A (G902S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +7 more	GConflicting classifications of pathogenicity

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