CN169374[trait identifier] AND "Inherited Neuropathy Consortium"[submi - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447723	NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)	MFN2 (K98E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 585713	NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)	MFN2 (S156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 439897	NM_014874.4(MFN2):c.493C>T (p.His165Tyr)	MFN2 (H165Y)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 214653	NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)	MFN2 (R250Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 138212	NM_014874.4(MFN2):c.957C>T (p.Gly319=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 447715	NM_014874.4(MFN2):c.1128G>A (p.Met376Ile)	MFN2 (M376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 439899	NM_014874.4(MFN2):c.1537A>G (p.Ile513Val)	MFN2 (I513V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 161293	NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)	LMNA (R512C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 584593	NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	NTRK1 (R55S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
Select item 418887	NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)	NTRK1 (E456K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138564	NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 246572	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	MPZ (G213R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +9 more	GConflicting classifications of pathogenicity
Select item 447730	NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)	MPZ (S140T)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 447727	NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)	MPZ (T65A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 637861	NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)	SCN1A-AS1, SCN9A (M1532I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 541003	NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)	FBXO38 (L311I)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +3 more	GLikely benign
Select item 188089	NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	SH3TC2 (D1229V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 637412	NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)	SH3TC2 (R1127W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 281116	NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)	SH3TC2 (S433L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +6 more	GConflicting classifications of pathogenicity
Select item 219741	NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)	SH3TC2 (Q46P)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 9204	NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	GARS1 (G240R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 637502	NM_002047.4(GARS1):c.1031+1G>A	GARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
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 447371	NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)	GARS1 (R391C +1 more)	Single nucleotide variant (missense variant)	not specified +2 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 209157	NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)	GARS1 (S635L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 66678	NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)	NEFL (A498T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 66677	NM_006158.5(NEFL):c.1458C>T (p.Ala486=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GBenign/Likely benign
Select item 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 66673	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 447763	NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)	NEFL (Y265D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +5 more	GConflicting classifications of pathogenicity
Select item 66697	NM_006158.5(NEFL):c.720C>T (p.Tyr240=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66696	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 66692	NM_006158.5(NEFL):c.423G>A (p.Gln141=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 66691	NM_006158.5(NEFL):c.279G>A (p.Gln93=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66686	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	NEFL (V76A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GBenign/Likely benign
Select item 637889	NM_006158.5(NEFL):c.192G>A (p.Leu64=)	NEFL	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 261065	NM_018972.4(GDAP1):c.507T>G (p.Ser169=)	GDAP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
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 235235	NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	BICD2 (K90R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more	GConflicting classifications of pathogenicity
Select item 6085	NM_003640.5(ELP1):c.2204+6T>C	ELP1	Single nucleotide variant (intron variant)	not specified +3 more	GPathogenic
Select item 155745	NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SETX (N1409Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity
Select item 256013	NM_000399.5(EGR2):c.1086A>C (p.Arg362=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +4 more	GBenign
Select item 258562	NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 637463	NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)	IGHMBP2 (R603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 194368	NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	IGHMBP2 (T879K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 637890	NM_002180.3(IGHMBP2):c.2784+54G>A	IGHMBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306535	NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)	MTMR2 (A602G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign/Likely benign
Select item 306538	NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)	MTMR2 (E502Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 637887	NM_016156.6(MTMR2):c.1233G>T (p.Thr411=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 138271	NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	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 126480	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	TRPV4 (A217S +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +9 more	GBenign/Likely benign
Select item 449454	NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)	TRPV4 (G20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 210883	NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)	DYNC1H1 (R264Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 312713	NM_022489.4(INF2):c.*10C>T	INF2 (P1235S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 219573	NM_001136472.2(LITAF):c.330C>T (p.Asn110=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 317782	NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)	LITAF (I92V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
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 637511	NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	AARS1 (T608M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 637432	NM_022041.4(GAN):c.1086+71C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637425	NM_000304.4(PMP22):c.468G>A (p.Leu156=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22 (T118M)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 514130	NM_000304.4(PMP22):c.327C>T (p.Cys109=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 431943	NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)	PMP22 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 637423	NM_000304.4(PMP22):c.-40G>A	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 637422	NM_000304.4(PMP22):c.-134G>A	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Guillain-Barre syndrome, familial +5 more	GUncertain significance
Select item 321865	NM_000304.4(PMP22):c.-141C>G	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 242179	NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	PRX (V525A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 130051	NM_181882.3(PRX):c.306C>T (p.Thr102=)	PRX	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 284652	NM_181882.3(PRX):c.133C>G (p.Arg45Gly)	LOC130064454, PRX (R45G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 637426	NM_000166.6(GJB1):c.30C>T (p.Leu10=)	GJB1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 430122	NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)	GJB1 (S50P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220932	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +4 more	GBenign/Likely benign
Select item 447429	NM_000166.6(GJB1):c.271G>C (p.Val91Leu)	GJB1 (V91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 637591	NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)	GJB1 (G159D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 368626	NM_000166.6(GJB1):c.507C>T (p.Asp169=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GBenign/Likely benign
Select item 447434	NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)	GJB1 (D178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 543925	NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)	GJB1 (K187E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 447437	NM_000166.6(GJB1):c.574G>T (p.Val192Phe)	GJB1 (V192F)	Single nucleotide variant (missense variant)	not specified	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 543923	NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)	GJB1 (R220G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 637640	NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)	GJB1 (N226S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 637578	NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)	GJB1 (R230L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GConflicting classifications of pathogenicity

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Items: 89