6329[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1326084	NC_000017.11:g.63938400G>A	GH-LCR, SCN4A	Single nucleotide variant	not provided	GLikely benign
Select item 1252202	NC_000017.11:g.63938510C>A	GH-LCR, SCN4A	Single nucleotide variant	not provided	GBenign
Select item 324463	NM_000334.4(SCN4A):c.*2211C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 889220	NM_000334.4(SCN4A):c.*2170G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 324464	NM_000334.4(SCN4A):c.*2169C>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 324465	NM_000334.4(SCN4A):c.*2150C>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 889900	NM_000334.4(SCN4A):c.*2085C>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324466	NM_000334.4(SCN4A):c.*2072G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 324467	NM_000334.4(SCN4A):c.*1989C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign/Likely benign
Select item 3383312	NM_000334.4(SCN4A):c.*1986G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Congenital myopathy 22A, classic	GUncertain significance
Select item 324468	NM_000334.4(SCN4A):c.*1916C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 324469	NM_000334.4(SCN4A):c.*1890C>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324470	NM_000334.4(SCN4A):c.*1887A>G	SCN4A, GH-LCR	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324471	NM_000334.4(SCN4A):c.*1875A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324472	NM_000334.4(SCN4A):c.*1828A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GBenign/Likely benign
Select item 324473	NM_000334.4(SCN4A):c.*1737A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign
Select item 1304844	NM_000334.4(SCN4A):c.*1696C>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 324474	NM_000334.4(SCN4A):c.*1679TG[7]	GH-LCR, SCN4A	Microsatellite (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign
Select item 324475	NM_000334.4(SCN4A):c.1677_1678insAT	GH-LCR, SCN4A	Insertion (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign/Likely benign
Select item 324476	NM_000334.4(SCN4A):c.*1611A>G	SCN4A, GH-LCR	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GBenign
Select item 889337	NM_000334.4(SCN4A):c.*1599A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324477	NM_000334.4(SCN4A):c.*1572T>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 890024	NM_000334.4(SCN4A):c.*1505G>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 890025	NM_000334.4(SCN4A):c.*1497C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324478	NM_000334.4(SCN4A):c.*1427T>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign
Select item 324479	NM_000334.4(SCN4A):c.*1384ATATATGTGT[3]	GH-LCR, SCN4A	Microsatellite (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign
Select item 324480	NM_000334.4(SCN4A):c.*1368G>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign/Likely benign
Select item 324481	NM_000334.4(SCN4A):c.*1357A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GBenign
Select item 889396	NM_000334.4(SCN4A):c.*1345A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324482	NM_000334.4(SCN4A):c.*1324T>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 890084	NM_000334.4(SCN4A):c.*1313G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 324483	NM_000334.4(SCN4A):c.*1271T>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 324484	NM_000334.4(SCN4A):c.*1253G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 891903	NM_000334.4(SCN4A):c.*1218G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324485	NM_000334.4(SCN4A):c.*1215G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 324486	NM_000334.4(SCN4A):c.*1205C>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hyperkalemic periodic paralysis +4 more	GUncertain significance
Select item 1241672	NM_000334.4(SCN4A):c.1185_1186insCTGGAGAGCAGAGGCTGTGCCCAG	GH-LCR, SCN4A	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 324487	NM_000334.4(SCN4A):c.*1172G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hyperkalemic periodic paralysis +4 more	GUncertain significance
Select item 890138	NM_000334.4(SCN4A):c.*1108C>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324488	NM_000334.4(SCN4A):c.*1088A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +5 more	GBenign/Likely benign
Select item 324489	NM_000334.4(SCN4A):c.*1069G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324490	NM_000334.4(SCN4A):c.*1057C>T	SCN4A, GH-LCR	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324491	NM_000334.4(SCN4A):c.*981G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GBenign
Select item 324492	NM_000334.4(SCN4A):c.*873G>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 890185	NM_000334.4(SCN4A):c.*780G>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324493	NM_000334.4(SCN4A):c.*755G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 890763	NM_000334.4(SCN4A):c.*754T>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324494	NM_000334.4(SCN4A):c.*710T>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +5 more	GBenign
Select item 324495	NM_000334.4(SCN4A):c.*670T>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hyperkalemic periodic paralysis +4 more	GLikely benign
Select item 889585	NM_000334.4(SCN4A):c.*630T>C	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324496	NM_000334.4(SCN4A):c.*563G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GBenign
Select item 890239	NM_000334.4(SCN4A):c.*552A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 324497	NM_000334.4(SCN4A):c.*394A>C	SCN4A, GH-LCR	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324498	NM_000334.4(SCN4A):c.*332C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +5 more	GBenign/Likely benign
Select item 324499	NM_000334.4(SCN4A):c.*315C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324500	NM_000334.4(SCN4A):c.*304G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 888582	NM_000334.4(SCN4A):c.*203T>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 16 +4 more	GUncertain significance
Select item 324501	NM_000334.4(SCN4A):c.*129G>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hyperkalemic periodic paralysis +4 more	GConflicting classifications of pathogenicity
Select item 324502	NM_000334.4(SCN4A):c.*122G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 324503	NM_000334.4(SCN4A):c.*86G>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 892087	NM_000334.4(SCN4A):c.*64G>A	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 324504	NM_000334.4(SCN4A):c.*22A>G	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 2 +5 more	GBenign
Select item 999587	NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile)	GH-LCR, SCN4A (V1836I)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 255859	NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +6 more	GBenign
Select item 1721697	NM_000334.4(SCN4A):c.5498A>T (p.Glu1833Val)	SCN4A, GH-LCR (E1833V)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1518513	NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg)	GH-LCR, SCN4A (K1832R)	Single nucleotide variant (missense variant)	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)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 2428936	NM_000334.4(SCN4A):c.5483G>A (p.Arg1828His)	GH-LCR, SCN4A (R1828H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 577832	NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)	GH-LCR, SCN4A (R1828C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +6 more	GUncertain significance
Select item 2704303	NM_000334.4(SCN4A):c.5479G>A (p.Val1827Met)	GH-LCR, SCN4A (V1827M)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1589784	NM_000334.4(SCN4A):c.5478T>A (p.Thr1826=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis	GLikely benign
Select item 567394	NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met)	GH-LCR, SCN4A (T1826M)	Indel (missense variant)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 130240	NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 3316579	NM_000334.4(SCN4A):c.5477C>T (p.Thr1826Ile)	GH-LCR, SCN4A (T1826I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 750029	NM_000334.4(SCN4A):c.5472G>A (p.Gly1824=)	SCN4A, GH-LCR	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis	GLikely benign
Select item 514878	NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)	GH-LCR, SCN4A (P1823R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 645079	NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr)	GH-LCR, SCN4A (P1823T)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	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 2435748	NM_000334.4(SCN4A):c.5458G>A (p.Ala1820Thr)	GH-LCR, SCN4A (A1820T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324505	NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 2026658	NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu)	GH-LCR, SCN4A (P1818L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 2760158	NM_000334.4(SCN4A):c.5451G>A (p.Trp1817Ter)	GH-LCR, SCN4A (W1817*)	Single nucleotide variant (nonsense)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1154116	NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1589907	NM_000334.4(SCN4A):c.5442C>T (p.Asp1814=)	SCN4A, GH-LCR	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis	GLikely benign
Select item 1422310	NM_000334.4(SCN4A):c.5438C>A (p.Ser1813Ter)	GH-LCR, SCN4A (S1813*)	Single nucleotide variant (nonsense)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 729927	NM_000334.4(SCN4A):c.5436C>A (p.Pro1812=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis	GLikely benign
Select item 2762515	NM_000334.4(SCN4A):c.5435C>A (p.Pro1812His)	SCN4A, GH-LCR (P1812H)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 2574020	NM_000334.4(SCN4A):c.5434C>T (p.Pro1812Ser)	GH-LCR, SCN4A (P1812S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2180871	NM_000334.4(SCN4A):c.5429T>C (p.Ile1810Thr)	GH-LCR, SCN4A (I1810T)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 212133	NM_000334.4(SCN4A):c.5420_5425del6	GH-LCR, SCN4A	Deletion	not specified +8 more	GUncertain significance
Select item 543829	NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile)	GH-LCR, SCN4A (M1808I)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 1375261	NM_000334.4(SCN4A):c.5417G>A (p.Gly1806Glu)	GH-LCR, SCN4A (G1806E)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1400037	NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile)	GH-LCR, SCN4A (M1805I)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 2973734	NM_000334.4(SCN4A):c.5413A>G (p.Met1805Val)	GH-LCR, SCN4A (M1805V)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1993953	NM_000334.4(SCN4A):c.5409dup (p.Thr1804fs)	GH-LCR, SCN4A (T1804fs)	Duplication (frameshift variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1484775	NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala)	GH-LCR, SCN4A (T1804A)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +7 more	GUncertain significance
Select item 2155928	NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis	GLikely benign
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

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