ClinVar (all) for Orgtrack (Select 506440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827645	NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu)	PLEKHG5 (P258L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 827644	NM_000166.6(GJB1):c.380T>A (p.Ile127Asn)	GJB1 (I127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 827643	NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)	PMP22 (W28C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 827642	NM_000304.4(PMP22):c.179-1G>A	PMP22	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 827641	NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)	IGHMBP2 (P789T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 827640	NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys)	IGHMBP2 (Y442C)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 694959	NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)	MORC2 (A344V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely pathogenic
Select item 694943	NM_014874.4(MFN2):c.272T>G (p.Val91Gly)	MFN2 (V91G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GConflicting classifications of pathogenicity
Select item 664361	NM_001374736.1(DST):c.3061-2A>T	DST	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely pathogenic
Select item 656136	NM_015459.5(ATL3):c.1392A>G (p.Ile464Met)	ATL3 (I446M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 654779	NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro)	LRSAM1 (L676P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 651906	NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)	AARS1 (G102R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 651121	NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)	SLC25A46 (A238P +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 649519	NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)	DYNC1H1 (V638I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 646801	NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)	NEFL (D248A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 641509	NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)	BSCL2, HNRNPUL2-BSCL2 (R160S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +1 more	GUncertain significance
Select item 639258	NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)	LITAF (A111T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 637949	NM_002180.3(IGHMBP2):c.2970_2982del (p.Glu990fs)	IGHMBP2 (E990fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637948	NM_002180.3(IGHMBP2):c.1682T>C (p.Ile561Thr)	IGHMBP2 (I561T)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637947	NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)	IGHMBP2, LOC126861245	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637946	NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)	INF2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637945	NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)	MFN2 (P251L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 637944	NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)	GJB1	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637943	NM_181882.3(PRX):c.642dup (p.Arg215fs)	PRX (R215fs)	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 637942	NM_001370298.3(FGD4):c.1248-2A>G	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637941	NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)	HINT1 (S61F)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637940	NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del)	MFN2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 637939	NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)	PMP22 (C109R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637938	NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn)	LMNA (T613N +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637937	NM_002180.3(IGHMBP2):c.1707C>T (p.Gly569=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637936	NM_014874.4(MFN2):c.322G>A (p.Gly108Arg)	MFN2 (G108R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +1 more	GConflicting classifications of pathogenicity
Select item 637935	NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg)	MFN2 (C390R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 637934	NM_014874.4(MFN2):c.1709A>G (p.Asn570Ser)	LOC129929426, MFN2 (N570S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 637933	NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp)	GDAP1 (N227D +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637932	NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)	GDAP1 (N297K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 637931	NM_014874.4(MFN2):c.408= (p.Val136=)	MFN2	Variation (no sequence alteration)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637930	NM_000530.8(MPZ):c.45T>G (p.Ala15=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637929	NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)	MPZ (D246N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637928	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	MPZ (T65N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 637927	NM_000530.8(MPZ):c.136G>A (p.Val46Met)	MPZ (V46M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 637926	NM_000166.6(GJB1):c.508G>A (p.Val170Ile)	GJB1 (V170I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 637925	NM_000166.6(GJB1):c.244A>G (p.Ile82Val)	GJB1 (I82V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637924	NM_000166.6(GJB1):c.234C>T (p.Ser78=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637923	NM_000530.8(MPZ):c.522_525del (p.Leu175fs)	MPZ (L175fs)	Deletion (frameshift variant)	Dejerine-Sottas disease	GUncertain significance
Select item 637922	NM_000166.6(GJB1):c.332_349del (p.His111_His116del)	GJB1	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637921	NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)	GJB1 (G21S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637920	NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)	GJB1 (I20N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637919	NM_000166.6(GJB1):c.761dup (p.Gln255fs)	GJB1 (Q255fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637918	NM_000166.6(GJB1):c.210dup (p.Ile71fs)	GJB1 (I71fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637917	NM_018979.4(WNK1):c.640del (p.Met214fs)	WNK1 (M214fs)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GConflicting classifications of pathogenicity
Select item 637916	NM_018979.4(WNK1):c.1089_1090insT (p.Val364fs)	WNK1 (V364fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637915	NM_181882.3(PRX):c.385_394dup (p.Leu132fs)	PRX (L132fs)	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637914	NM_002529.4(NTRK1):c.2162T>C (p.Phe721Ser)	NTRK1 (F721S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy	GUncertain significance
Select item 637913	NM_002529.4(NTRK1):c.717+1G>C	NTRK1	Single nucleotide variant (splice donor variant)	Hereditary sensory and autonomic neuropathy	GUncertain significance
Select item 637912	NM_002529.4(NTRK1):c.924_930del (p.Gln308fs)	NTRK1 (Q278fs +1 more)	Deletion (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 637911	NM_002529.4(NTRK1):c.2289C>G (p.Cys763Trp)	NTRK1 (C757W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637910	NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)	IGHMBP2 (R637C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GConflicting classifications of pathogenicity
Select item 637909	NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys)	IGHMBP2 (G586C)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637908	NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	IGHMBP2 (A786fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 637907	NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter)	IGHMBP2 (Q657*)	Single nucleotide variant (nonsense)	Distal spinal muscular atrophy	GUncertain significance
Select item 637906	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2 (Q55*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637905	NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile)	IGHMBP2 (N583I)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637904	NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs)	IGHMBP2 (Q550fs)	Insertion (frameshift variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637903	NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)	IGHMBP2 (H445P)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 637902	NM_002180.3(IGHMBP2):c.1235+3A>G	IGHMBP2	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637901	NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)	IGHMBP2 (Q41fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637900	NM_002180.3(IGHMBP2):c.1091T>C (p.Leu364Pro)	IGHMBP2 (L364P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637899	NM_002180.3(IGHMBP2):c.1060+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 637898	NM_018979.4(WNK1):c.918_919insA (p.Gly307fs)	WNK1 (G307fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637897	NM_018979.4(WNK1):c.1137dup (p.Ala380fs)	WNK1 (A380fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637896	NM_018979.4(WNK1):c.1065_1066del (p.Phe356fs)	WNK1 (F356fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637895	NM_000304.4(PMP22):c.75_78+2del	PMP22	Deletion (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637894	NM_002529.4(NTRK1):c.722dup (p.Gly242fs)	NTRK1 (G212fs +1 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637893	NM_002047.4(GARS1):c.547C>T (p.Leu183Phe)	GARS1 (L183F +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637892	NM_001136472.2(LITAF):c.477G>A (p.Lys159=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GConflicting classifications of pathogenicity
Select item 637891	NM_001136472.2(LITAF):c.222T>C (p.Ile74=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 637890	NM_002180.3(IGHMBP2):c.2784+54G>A	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637889	NM_006158.5(NEFL):c.192G>A (p.Leu64=)	NEFL	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 637887	NM_016156.6(MTMR2):c.1233G>T (p.Thr411=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 637885	NM_016156.6(MTMR2):c.1131= (p.Thr377=)	MTMR2	Single nucleotide variant (no sequence alteration)	not specified	GUncertain significance
Select item 637884	NM_016156.6(MTMR2):c.8= (p.Lys3=)	MTMR2	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 637883	NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)	GJB1	Deletion (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637882	NM_000166.6(GJB1):c.594T>A (p.Ser198=)	GJB1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 637881	NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	GJB1 (F180L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 637880	NM_000166.6(GJB1):c.462T>C (p.Tyr154=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 637879	NM_000166.6(GJB1):c.441C>T (p.Ala147=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 637878	NM_000166.6(GJB1):c.308dup (p.Lys104fs)	GJB1 (K104fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637877	NM_000166.6(GJB1):c.115del (p.Ala39fs)	GJB1 (A39fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637876	NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)	GJB1 (A39fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637875	NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His)	SPTLC1 (Y18H)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GBenign
Select item 637874	NM_006941.4(SOX10):c.1037C>G (p.Ser346Ter)	POLR2F, SOX10 (S346*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637872	NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)	SLC12A6 (R618fs +4 more)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637871	NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)	SLC12A6 (G488D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637870	NM_024577.4(SH3TC2):c.1915del (p.Ala639fs)	SH3TC2 (A639fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637869	NM_024577.4(SH3TC2):c.3202C>T (p.Gln1068Ter)	SH3TC2 (Q1068*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637868	NM_024577.4(SH3TC2):c.3233_3234del (p.Glu1078fs)	SH3TC2 (E1078fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637867	NM_024577.4(SH3TC2):c.253del (p.Asp85fs)	SH3TC2 (D85fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637866	NM_024577.4(SH3TC2):c.3676-1G>A	SH3TC2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 637865	NM_024577.4(SH3TC2):c.2873-14T>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637864	NM_024577.4(SH3TC2):c.530-1G>A	SH3TC2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance

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