C0393541[trait identifier] AND "Inherited Neuropathy Consortium"[submi - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216737	NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)	SH3TC2 (A468F)	Indel (missense variant)	not provided +3 more	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 637059	NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	GARS1 (A111V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	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 476747	NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	GARS1 (I334F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 360011	NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	GARS1 (N367S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 410314	NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	GARS1 (H472R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 9208	NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	GARS1 (D500N +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GConflicting classifications of pathogenicity
Select item 9207	NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	GARS1 (G526R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2291	NM_015046.7(SETX):c.6407G>A (p.Arg2136His)	SETX (R2136H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2289	NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)	SETX (L389S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2290	NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	SETX (T3I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637458	NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro)	IGHMBP2 (L17P)	Single nucleotide variant (missense 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 162194	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +4 more	GPathogenic
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 637473	NC_000011.10:g.68906238_68929183del	IGHMBP2, LOC130006272 +1 more	Deletion	Distal spinal muscular atrophy	GUncertain significance
Select item 637460	NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter)	IGHMBP2 (Q206*)	Single nucleotide variant (nonsense)	Distal spinal muscular atrophy	GUncertain significance
Select item 637462	NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu)	IGHMBP2 (P216L)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637465	NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)	IGHMBP2 (T221fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637464	NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala)	IGHMBP2 (T221A)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637467	NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg)	IGHMBP2 (C241R)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637468	NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro)	IGHMBP2 (L251P)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 522258	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2 (Q302*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic/Likely pathogenic
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 245627	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2 (L361P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GPathogenic
Select item 637456	NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	IGHMBP2 (E382K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 573815	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2 (W386R)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
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 637459	NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro)	IGHMBP2 (L426P)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	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 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 620136	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2 (Q446*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 637466	NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro)	IGHMBP2 (L472P)	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 581680	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2 (D565N)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 561032	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2 (R570*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637457	NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser)	IGHMBP2 (R581S)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
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 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 637463	NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)	IGHMBP2 (R603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 235774	NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)	IGHMBP2 (R603H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 488694	NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)	IGHMBP2 (R605*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GPathogenic
Select item 637461	NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs)	IGHMBP2 (L626fs)	Deletion (frameshift variant)	Distal spinal muscular atrophy	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 637907	NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter)	IGHMBP2 (Q657*)	Single nucleotide variant (nonsense)	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 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 162195	NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	IGHMBP2 (R971fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 5002	NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	TRPV4 (R269C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 619020	NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)	VRK1 (R219I)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 10 +2 more	GConflicting classifications of pathogenicity
Select item 617789	NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)	VRK1 (W254L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 10 +2 more	GConflicting classifications of pathogenicity
Select item 539778	NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His)	DYNC1H1 (R639H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 53