ClinVar (all) for Orgtrack (Select 508658) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723141	NM_000334.4(SCN4A):c.791T>C (p.Phe264Ser)	SCN4A (F264S)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1723140	NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)	SCN4A (A37T)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1723139	NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)	CLCN1 (L880del)	Deletion (inframe_deletion +1 more)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1723138	NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)	CLCN1, LOC123956257 (R672G)	Single nucleotide variant (missense variant +1 more)	Hypokalemic periodic paralysis, type 1	GPathogenic
Select item 1723137	NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)	CLCN1, LOC123956257 (R672H)	Single nucleotide variant (missense variant +1 more)	Hyperkalemic periodic paralysis	GPathogenic
Select item 1723136	NM_000069.3(CACNA1S):c.3726G>T (p.Arg1242Ser)	CACNA1S (R1242S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GLikely pathogenic
Select item 1723135	NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)	CACNA1S (R900S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1723134	NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)	KCNJ2 (Y280C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 1723133	NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)	KCNJ2 (D112Y)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 1697283	NM_000334.4(SCN4A):c.3497T>C (p.Val1166Ala)	GH-LCR, SCN4A (V1166A)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia	GLikely pathogenic
Select item 1697282	NM_000334.4(SCN4A):c.3470T>A (p.Ile1157Asn)	GH-LCR, SCN4A (I1157N)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia	GLikely pathogenic
Select item 1697281	NM_000334.4(SCN4A):c.2409C>A (p.Ser803Arg)	GH-LCR, SCN4A (S803R)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia	GUncertain significance
Select item 1697280	NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)	GH-LCR, SCN4A	Indel (inframe_indel)	SCN4A-related non-dystrophic myotonia	GLikely pathogenic
Select item 1697279	NM_000334.4(SCN4A):c.4757T>C (p.Phe1586Ser)	GH-LCR, SCN4A (F1586S)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia	GUncertain significance
Select item 1697278	NM_000334.4(SCN4A):c.638G>A (p.Gly213Asp)	SCN4A (G213D)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia	GUncertain significance
Select item 1697277	NM_000083.3(CLCN1):c.998T>C (p.Phe333Ser)	CLCN1 (F333S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 1697276	NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn)	CLCN1 (T328N)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 1697275	NM_000083.3(CLCN1):c.961G>A (p.Val321Met)	CLCN1 (V321M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 1697274	NM_000083.3(CLCN1):c.938C>T (p.Ala313Val)	CLCN1 (A313V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GPathogenic
Select item 1697273	NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)	CLCN1 (K215R)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 1697272	NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)	CLCN1 (T539A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 1697271	NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr)	CLCN1 (P480T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GPathogenic
Select item 1697270	NM_000083.3(CLCN1):c.1028T>G (p.Phe343Cys)	CLCN1 (F343C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 1697269	NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr)	CLCN1 (S132T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 1475468	NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val)	SCN4A (I588V)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 1344911	NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)	KCNJ2 (R213*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1333342	NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)	SCN4A (R225W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +1 more	GUncertain significance
Select item 1303156	NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)	GH-LCR, SCN4A (K880del)	Microsatellite (inframe_deletion)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1185909	NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn)	SCN4A, GH-LCR (T1646N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175773	NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	CLCN1 (Y257*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 1059958	NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr)	CLCN1 (I870T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 935242	NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)	CLCN1 (M560T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 871782	NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	CLCN1 (G523D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 844682	NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu)	GH-LCR, SCN4A (V1149L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 801418	NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys)	DNMT1, SHFL (Y540C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637485	NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)	NTRK1 (P768L +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 637076	NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)	DNMT1 (H569R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 620139	NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter)	NTRK1 (R566* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 576206	NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)	GH-LCR, SCN4A (A1481D)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GPathogenic
Select item 568464	NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)	SCN4A (E452K)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 567853	NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del)	SCN4A, GH-LCR (E1703del)	Microsatellite (inframe_deletion)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 531747	NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	CLCN1 (A298T)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 448280	NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	GH-LCR, SCN4A (R1451H)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 447068	NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)	CLCN1 (S183P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 447049	NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	CLCN1 (R421H)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 245903	NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu)	SCN1A-AS1, SCN9A (A1632E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 190820	NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	KCNJ2 (R312H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 157598	NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs)	SCN1A-AS1, SCN9A (L1331fs +1 more)	Indel (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type IId +2 more	GConflicting classifications of pathogenicity
Select item 143201	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	GH-LCR, SCN4A (R1135H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 143199	NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SCN4A (R222W)	Single nucleotide variant (missense variant)	SCN4A-related condition +7 more	GPathogenic/Likely pathogenic
Select item 67594	NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	KCNJ2 (R312C)	Single nucleotide variant (missense variant)	KCNJ2-related condition +3 more	GPathogenic/Likely pathogenic
Select item 21307	NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)	NTRK1 (D638Y +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic/Likely pathogenic
Select item 21305	NM_002529.4(NTRK1):c.1660del (p.Arg554fs)	NTRK1 (R548fs +2 more)	Deletion (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 21040	NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1 (A531V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 21034	NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)	CACNA1S (R528G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GPathogenic
Select item 17625	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S (R528H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GPathogenic
Select item 17623	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S (R1239H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Memory impairment +8 more	GPathogenic/Likely pathogenic
Select item 8923	NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	KCNJ2	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic
Select item 5923	NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	GH-LCR, SCN4A (I693T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5913	NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SCN4A (R672G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5912	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A (R672H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +7 more	GConflicting classifications of pathogenicity
Select item 5910	NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	SCN4A (V445M)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GPathogenic
Select item 5907	NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)	GH-LCR, SCN4A (L1433R)	Single nucleotide variant (missense variant)	SCN4A-related non-dystrophic myotonia +1 more	GPathogenic
Select item 5904	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	GH-LCR, SCN4A (T1313M)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +7 more	GPathogenic
Select item 5903	NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	GH-LCR, SCN4A (G1306V)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +2 more	GPathogenic
Select item 5899	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	GH-LCR, SCN4A (R1448H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 5897	NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	GH-LCR, SCN4A (M1592V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GPathogenic
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	SCN4A-related condition +8 more	GPathogenic

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Items: 69